3619 lines
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Entry
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- *146880 - MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ ALPHA-1; HLA-DQA1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*146880</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#otherFeatures">Other Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000196735;t=ENST00000343139" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=3117" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=146880" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000196735;t=ENST00000343139" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_002122,XM_006715079" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_002122" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=146880" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=06765&isoform_id=06765_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/HLA-DQA1" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/32134,122188,187937,187939,188121,188207,188261,291953,306859,307251,307252,386922,386923,386924,386925,553264,553572,606784,619808,619810,619812,619814,619816,619818,619820,619824,619826,619828,619830,619832,758069,913772,1160936,1814392,1877200,1916745,2121263,2385502,2385504,2394011,2665521,5931951,13021909,14250311,18426975,21322210,21635632,21686456,21686458,21686460,21686462,21686464,21686466,21686468,22255894,22255896,22255898,22255900,22255902,22255904,22255906,22255908,22255910,22255912,22255914,22255916,22255918,22255920,22255922,22255924,22255926,22255928,22255930,22255932,22255934,22255936,22255938,22255940,22255942,22255944,22255946,22255948,22255950,22255952,22255954,22255956,22255958,22255960,22255962,22255964,22255966,22255968,22255970,22255972,22255974,22255976,22255978,22255980,22255982,22255984,27819284,28559049,28559050,28559051,28559052,28559053,28559055,28559056,28559058,28630937,28848931,32401120,37222414,37222416,37222418,37222420,37222422,37222424,37222426,37222428,37222430,37222432,37222434,37222444,37222448,37222450,37222452,37222460,37222462,37222464,37222466,37222468,37222470,37222472,37222474,37222476,37222478,37361578,37361582,37361586,37361590,37361594,37361598,37361602,37361798,37361802,37361806,37498580,37498582,37498584,37498586,37498588,37498590,37498592,37498594,37498596,37498598,37498600,37498602,37498604,37498622,37498624,37498626,37498628,37498630,37498632,37498634,37498636,37498638,37498640,37498642,37498644,37498646,37498648,37498650,37498652,37498654,37498656,37498658,37498660,37498662,37498664,37498668,37498672,37498676,37498680,37529979,37529983,37529987,37529991,37529995,44953801,47078703,47496541,49522212,52840173,52840177,52840181,52840185,52840196,52840213,52840217,52840225,52840229,52840237,52840241,52840245,52840249,52840253,60495462,62088836,77539954,77539960,77539966,77539972,83308056,83308058,84796225,84796227,84796229,84796231,84796233,110238636,110238638,110238640,115527723,115529023,119570889,119570890,187957376,189054169,194386044,219521350,261923451,295039421,348080794,348080812,348080832,396940294,396940296,396940298,397174432,397174434,401779709,401779711,401779713,443287475,470900657,527354612,538258875,575882247,578811644,600971535,607346691,607346709,607346727,607346745,775444683,949493013,949493015,949493017,949493019,990089814,1003092031,1031607183,1031607185,1031607187,1031607189,1031607191,1031607193,1031607195,1031607197,1031607199,1031607201,1031607203,1031607205,1031607207,1031607209,1031607211,1031607213,1031607215,1031607217,1031607219,1031607221,1031607223,1031607225,1031607227,1031607229,1031607231,1031607233,1096118168,1096118171,1096118174,1096118177,1096118180,1096118183,1120690271,1120690273,1178428817,1202138301,1202138307,1205917188,1282836928,1330104651,1330104653,1330104655,1330104657,1336429066,1336429068,1336429078,1347354777,1374513916,1391306363,1391306365,1391306367,1447726099,1447726105,1473037757,1532670999,1532671007,1532671009,1532671011,1532671013,1537915321,1548990862,1548990864,1548990866,1548990868,1601521443,1601521445,1601521447,1601521449,1601521451,1601521453,1601521455,1601521457,1601521459,1601521461,1601521463,1601521465,1601521467,1601521469,1601521471,1601521473,1601521475,1601521477,1601521479,1601521481,1601521483,1601521485,1601521487,1601521489,1601521491,1601521493,1601521495,1601521497,1601521499,1601521501,1601521503,1601521505,1601521507,1601521509,1601521511,1601521513,1601853126,1601853128,1602007865,1602007882,1603730964,1603730966,1603730968,1603730970,1603730972,1604334538,1604334540,1607271799,1607271801,1624421432,1624423789,1652580355,1652580357,1652580363,1678474412,1679387686,1679387692,1679387694,1679387704,1679387706,1679387708,1679387710,1679387724,1679387726,1679387728,1679387730,1679387744,1679387750,1679387760,1679387764,1679770367,1679863131,1679863133,1679863135,1679863137,1682444017,1682444019,1682444021,1682444025,1682444027,1682444029,1682444031,1686075571,1701703993,1726954857,1726954859,1726954861,1726954863,1726954865,1726954867,1726954869,1726954871,1746152450,1746686572,1750412072,1750412104,1755169606,1757285415,1758970032,1767310406,1767311041,1767311046,1767311051,1767311056,1767311061,1767311066,1768460893,1768460895,1768460903,1768909605,1771842662,1772372547,1772372551,1772372553,1774856313,1777420545,1777420555,1777420557,1777420561,1777428043,1777428045,1777428047,1777428049,1777428051,1777428053,1777428055,1777428057,1777428059,1778222699,1778477451,1784330836,1784330838,1784330842,1784330846,1793688408,1798051275,1798051326,1802647557,1802647559,1802647561,1802647563,1809500946,1809500948,1809500950,1809500952,1809500954,1809500956,1809500958,1812654797,1820364143,1821497933,1821497970,1821497975,1821497981,1821497987,1821497993,1821497997,1827519411,1837915336,1837917888,1843801553,1843801561,1843801563,1843801567,1844115742,1845941695,1845941699,1845941701,1845941707,1845941711,1860211455,1861632141,1861632143,1861868592,1861868597,1881770114,1881770116,1881770118,1896050184,1900505330,1909417794,1909417847,1914848413,1914848415,1914848427,1914848431,1914848433,1914848435,1914848441,1914848443,1914848445,1914848447,1914848449,1914848451,1914848453,1914848455,1914848457,1914848459,1914848461,1914848463,1914848465,1914848469,1914848471,1914848475,1914848477,1914848481,1914848483,1914848485,1928111145,1933067513,1933067515,1939576650,1939576652,1939576656,1939576658,1939576660,1939576662,1939576664,1939576666,1939576668,1939576670,1939576674,1939576682,1939576684,1939576686,1939576688,1939576698,1939576700,1940129359,1946849031,1946849033,1946849060,1956525450,1956558414,1956913803,1956913805,1956913966,1956913968,1956913970,1956913972,1994399987,1994400024,1994400084,1995081364,2006881515,2006881539,2021118331,2021118333,2021118335,2021118375,2021118385,2021118389,2023429300,2023429304,2028580077,2055912439,2055912445,2055934938,2060820509,2060820892,2060821041,2060821353,2061271685,2070987236,2079953018,2081631694,2094058840,2094058844,2094058846,2094058848,2094058850,2094058852,2094552991,2095812220,2096622888,2096622892,2096622894,2106113739,2106113741,2118813368,2119031627,2124384009,2124384013,2125923391,2125923393,2125923397,2126753011,2126753047,2127005762,2128398935,2128398937,2128398939,2128398941,2128398943,2128398945,2128398947,2128398949,2128398951,2128398953,2128398955,2128398957,2128398959,2128398961,2128398963,2128398965,2128398967,2128398969,2128398971,2128398973,2128398975,2128398977,2128398979,2128398981,2128398983,2128398985,2128398987,2128398989,2128398991,2128398993,2128398995,2128398997,2128398999,2128399001,2128399003,2128399005,2128399007,2128399009,2129099235,2154048708,2157181643,2157181645,2159882705,2172205187,2172388129,2172388134,2172388136,2172388146,2172388151,2172388153,2172388155,2178355578,2178355580,2181422019,2183017752,2184424922,2184424924,2187015032,2187015045,2187015881,2187015883,2188711919,2202943024,2206267778,2206267780,2206267782,2206267784,2206267786,2213419082,2214793561,2214793609,2214793611,2214793613,2214793615,2214793629,2214793631,2214793671,2214793673,2220665221,2229261760,2231822104,2231828033,2232859099,2232859101,2232859106,2232859108,2232859177,2232859179,2232859181,2240251086,2245985848,2251129272,2251556262,2258717969,2264235709,2265232415,2265232469,2268718508,2268718543,2268761341,2268761350,2269549095,2269686868,2269686870,2269686884,2270759516,2274574704,2279970168,2279970170,2287886217,2287886219,2287886221,2287886223,2287886225,2288520284,2301591246,2314949514,2314949516,2315190770,2315194401,2319117073,2320645261,2321181418,2321181420,2322509273,2322509359,2323264169,2323264175,2323445303,2324022888,2324022894,2324022900,2324990833,2325202289,2325203953,2325204266,2325361274,2325887848,2325887850,2337838690,2337838742,2341036632,2363387177,2370799152,2370799358,2370799657,2374006275,2386129447,2386129549,2386129582,2392406865,2399342367,2412214523,2413471607,2423834556,2428612199,2428612203,2428898515,2429124913,2429409042,2430139565,2430139746,2430870713,2430870717,2430870719,2437085102,2438257296,2438730097,2438730190,2439416371,2444487858,2445456837,2451846365,2451846369,2452509864,2462492380,2462492382,2462493359,2462493963,2462494426,2462494935,2462494937,2462495473,2462608183" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P01909" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=3117" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000196735;t=ENST00000343139" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=HLA-DQA1" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=HLA-DQA1" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+3117" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/HLA-DQA1" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:3117" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/3117" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr6&hgg_gene=ENST00000343139.11&hgg_start=32637406&hgg_end=32655272&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/hla-dqa1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=146880[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=146880[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000196735" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=HLA-DQA1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=HLA-DQA1" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.ebi.ac.uk/imgt/hla/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=HLA-DQA1&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA35066" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-cell;">Animal Models</div>
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</a>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:4942" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:95895" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/HLA-DQA1#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:95895" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/3117/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=3117" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3117" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=HLA-DQA1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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146880
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ ALPHA-1; HLA-DQA1
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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HLA-DQA<br />
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HLADC HISTOCOMPATIBILITY TYPE; HLA-DQ
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</h4>
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<div>
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<br />
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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IMMUNE RESPONSE ANTIGENS HIa, INCLUDED
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<div>
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<span class="h4 mim-font">
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DC1, INCLUDED
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<div>
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<br />
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=HLA-DQA1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">HLA-DQA1</a></em></strong>
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</span>
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</p>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/6/368?start=-3&limit=10&highlight=368">6p21.32</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:32637406-32655272&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">6:32,637,406-32,655,272</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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<br />
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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Location
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</th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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<a href="/geneMap/6/368?start=-3&limit=10&highlight=368">
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6p21.32
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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{Celiac disease, susceptibility to}
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/212750"> 212750 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</table>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/146880" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/146880" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>The human Ia, or Ia-like, antigens are a group of cell-membrane alloantigens that are expressed mainly on B cells and are homologs of mouse Ia antigens. In analogy to mouse Ia, multiple loci were thought to be involved. Family and population data had suggested the existence of 2 human Ia loci (e.g., <a href="#12" class="mim-tip-reference" title="Duquesnoy, R. J., Marrari, M., Annen, K. <strong>Identification of an HLA-DR associated system of B cell alloantigens.</strong> Transplant. Proc. 11: 1757-1760, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/93800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">93800</a>]" pmid="93800">Duquesnoy et al., 1979</a>), only 1 of which is controlled by the HLA-DR locus (<a href="/entry/142860">142860</a>). <a href="#36" class="mim-tip-reference" title="Tosi, R., Tanigaki, N., Cantis, D., Ferrara, G. B., Pressman, D. <strong>Immunological dissection of human Ia molecules.</strong> J. Exp. Med. 148: 1592-1611, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/82605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">82605</a>] [<a href="https://doi.org/10.1084/jem.148.6.1592" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="82605">Tosi et al. (1978)</a> defined an Ia specificity distinct from HLA-DR. <a href="#33" class="mim-tip-reference" title="Tanigaki, N., Tosi, R., Pressman, D., Ferrara, G. B. <strong>Molecular identification of human Ia antigens coded for by a gene closely linked to HLA-DR locus.</strong> Immunogenetics 10: 151-167, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6932390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6932390</a>] [<a href="https://doi.org/10.1007/BF01561564" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6932390">Tanigaki et al. (1980)</a> distinguished a third species of molecules carrying an Ia specificity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6932390+93800+82605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Hsu, S. H., Chan, M. M., Bias, W. B. <strong>Genetic control of major histocompatibility complex-linked immune responses to synthetic polypeptides in man.</strong> Proc. Nat. Acad. Sci. 78: 440-444, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6787587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6787587</a>] [<a href="https://doi.org/10.1073/pnas.78.1.440" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6787587">Hsu et al. (1981)</a> used in vitro lymphoproliferative response to synthetic polypeptides to study immune response (Ir) genes. They concluded that the human Ir genes are polymorphic, with alleles controlling different levels of responsiveness. They suggested that the locus they studied, presumably the homolog of Ir-1 of mouse, is closer to HLA-B than to HLA-D. The Ia molecules, glycoproteins, have alpha and beta polypeptide chains with a molecular mass of 33 and 28 kD, respectively. Like the histocompatibility antigens, they are components of the cell membrane with a long extramembrane portion and a short extension inside the cell membrane. The HLA antigens, of molecular mass 45 kD, have a similar transmembrane positioning and are dimeric because of the association with beta-microglobulin (B2M), which has no intramembrane tail. In the mouse, the Ir genes, which determine the Ia molecules, are multiple with 5 closely linked regions designated I-A, I-B, I-J, I-E, I-C, according to one model (<a href="#4" class="mim-tip-reference" title="Benacerraf, B. <strong>Role of MHC gene products in immune response. (Nobel Lecture).</strong> Science 212: 1229-1238, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6165083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6165083</a>] [<a href="https://doi.org/10.1126/science.6165083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6165083">Benacerraf, 1981</a>). The model for explaining the results of experiments on responsiveness to synthetic polypeptides suggests the existence of multiple genes in at least 3 of the 5 regions. The alpha and beta chains are determined by 2 separate genes in the I-A region in the case of some Ia molecules. In the case of other Ia molecules, the beta chain is determined by a gene in the I-A region and the alpha chain by a gene in the I-E region. Thus, this is an apparent exception to the general rule of nonsynteny of genes determining the separate components of a heteromeric protein. The necessary involvement of 2 genes in the synthesis of the alpha and beta chains explains the phenomenon of interlocus complementation in immune response genes, as demonstrated by <a href="#17" class="mim-tip-reference" title="Hsu, S. H., Chan, M. M., Bias, W. B. <strong>Genetic control of major histocompatibility complex-linked immune responses to synthetic polypeptides in man.</strong> Proc. Nat. Acad. Sci. 78: 440-444, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6787587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6787587</a>] [<a href="https://doi.org/10.1073/pnas.78.1.440" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6787587">Hsu et al. (1981)</a> in man. For a review, see <a href="#4" class="mim-tip-reference" title="Benacerraf, B. <strong>Role of MHC gene products in immune response. (Nobel Lecture).</strong> Science 212: 1229-1238, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6165083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6165083</a>] [<a href="https://doi.org/10.1126/science.6165083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6165083">Benacerraf (1981)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6787587+6165083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Several genetic markers of human Ia molecules, each recognized by specific alloantisera, have been identified: DR1, 2, 3, 4, 5, w6, 7, w8, w9, and w10. They are controlled by a single locus, HLA-DR. DC1 represents a specificity that shows population association with DR1, 2 and w6, but is carried by a different molecular species. Thus, DC1 reflects a locus distinct from, but closely linked to, DR. <a href="#9" class="mim-tip-reference" title="Corte, G., Calabi, F., Damiani, G., Bargellesi, A., Tosi, R., Sorrentino, R. <strong>Human Ia molecules carrying DC1 determinants differ in both alpha- and beta-subunits from Ia molecules carrying DR determinants.</strong> Nature 292: 357-360, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6166865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6166865</a>] [<a href="https://doi.org/10.1038/292357a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6166865">Corte et al. (1981)</a> developed a monoclonal reagent specifically directed against DC1 and used it for the structural analysis of DC1 molecules as compared with Ia molecules carrying DR determinants. <a href="#29" class="mim-tip-reference" title="Shackelford, D. A., Mann, D. L., van Rood, J. J., Ferrara, G. B., Strominger, J. L. <strong>Human B-cell alloantigens DC1, MT1, and LB12 are identical to each other but distinct from the HLA-DR antigen.</strong> Proc. Nat. Acad. Sci. 78: 4566-4570, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6974868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6974868</a>] [<a href="https://doi.org/10.1073/pnas.78.7.4566" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6974868">Shackelford et al. (1981)</a> concluded that some human B-lymphoblastoid cell lines express at least 2 types of Ia-like antigens. One antigen is defined by alloantisera to HLA-DR. The other is defined by alloantisera and by a monoclonal antibody to specificities DC1, MT1, and LB12, which are identical to each other and are in linkage disequilibrium with HLA-DR. The subunits of the DC1 molecule differ from those of the DR molecule. The light (or beta) chains of both molecules are structurally polymorphic. DR is thought to be particularly analogous to the I-E/C antigen encoded in the H2 complex of the mouse. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6166865+6974868" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The amino-terminal sequences of the DC1 heavy chain show homology to the mouse I-A alpha chain (<a href="#5" class="mim-tip-reference" title="Bono, M. R., Strominger, J. L. <strong>Direct evidence of homology between DC-1 antigen and murine I-A molecules.</strong> Nature 299: 836-840, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6752724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6752724</a>] [<a href="https://doi.org/10.1038/299836a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6752724">Bono and Strominger, 1982</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6752724" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Auffray, C., Korman, A. J., Roux-Dosseto, M., Bono, R., Strominger, J. L. <strong>cDNA clone for the heavy chain of the human B cell alloantigen DC1: strong sequence homology to the HLA-DR heavy chain.</strong> Proc. Nat. Acad. Sci. 79: 6337-6341, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6815651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6815651</a>] [<a href="https://doi.org/10.1073/pnas.79.20.6337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6815651">Auffray et al. (1982)</a> isolated a cDNA clone for the heavy chain of the human B cell alloantigen DC1, which has 232 amino acids. An external domain and the transmembrane region of the DC1 heavy chain showed strong sequence homology to the corresponding portions of the HLA-DR heavy chain. <a href="#30" class="mim-tip-reference" title="Sorrentino, R., Corte, G., Calabi, F., Tanigaki, N., Tosi, R. <strong>Microfingerprinting analysis of human Ia molecules favours a three loci model.</strong> Molec. Immun. 20: 333-343, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6191204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6191204</a>] [<a href="https://doi.org/10.1016/0161-5890(83)90073-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6191204">Sorrentino et al. (1983)</a> concluded that there are 3 tightly linked HLA loci controlling the beta subunits of DR, DC, and BR molecules, respectively. Under conditions of high stringency and considering the most intensely hybridizing bands, 1 gene locus each was recognized by HLA-DR alpha and HLA-DR beta probes and 2 by the HLA-DC beta probe (<a href="#21" class="mim-tip-reference" title="Levine, F., Mach, B., Long, E., Erlich, H., Pious, D. <strong>Mapping in the HLA-D region with deletion variants and cloned genes. (Abstract)</strong> Cytogenet. Cell Genet. 37: 523, 1984."None>Levine et al., 1984</a>). By study of variants with various breakpoints, they defined 3 subregions in the following order from the centromere distally: subregion I, HLA-DC beta-1; subregion II, HLA-DC beta-2 and HLA-DR alpha; subregion III, HLA-DR beta. The DC and DX (<a href="/entry/613503">613503</a>) subregions, part of DQ, were studied by <a href="#26" class="mim-tip-reference" title="Okada, K., Boss, J. M., Prentice, H., Spies, T., Mengler, R., Auffray, C., Lillie, J., Grossberger, D., Strominger, J. L. <strong>Gene organization of DC and DX subregions of the human major histocompatibility complex.</strong> Proc. Nat. Acad. Sci. 82: 3410-3414, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3858830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3858830</a>] [<a href="https://doi.org/10.1073/pnas.82.10.3410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3858830">Okada et al. (1985)</a> by molecular genetic techniques. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6815651+6191204+3858830" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#10" class="mim-tip-reference" title="Cucca, F., Lampis, R., Congia, M., Angius, E., Nutland, S., Bain, S. C., Barnett, A. H., Todd, J. A. <strong>A correlation between the relative predisposition of MHC class II alleles to type 1 diabetes and the structure of their proteins.</strong> Hum. Molec. Genet. 10: 2025-2037, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11590120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11590120</a>] [<a href="https://doi.org/10.1093/hmg/10.19.2025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11590120">Cucca et al. (2001)</a> predicted the protein structure of HLA-DQ by using the published crystal structures of different allotypes of the murine ortholog of DQ, IA. There were marked similarities both within and across species between type 1 diabetes protective class II molecules. Likewise, the type 1 diabetes predisposing molecules DR and murine IE showed conserved similarities that contrasted with the shared patterns observed between the protective molecules. There was also inter-isotypic conservation between protective DQ, IA allotypes, and protective DR4 subtypes. The authors proposed a model for a joint action of the class II peptide-binding pockets P1, P4, and P9 in disease susceptibility and resistance with a main role for P9 in DQ/IA and for P1 and P4 in DR/IE. They suggested shared epitope(s) in the target autoantigen(s) and common pathways in human and murine type 1 diabetes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11590120" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#14" class="mim-tip-reference" title="Gyllensten, U. B., Erlich, H. A. <strong>Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.</strong> Proc. Nat. Acad. Sci. 85: 7652-7656, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3174659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3174659</a>] [<a href="https://doi.org/10.1073/pnas.85.20.7652" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3174659">Gyllensten and Erlich (1988)</a> showed that it is possible in a single step to amplify a single-copy gene and produce an excess of single-stranded DNA of a chosen strand for direct sequencing or for use as a hybridization probe. Furthermore, individual alleles in the heterozygote can be sequenced directly. Using these methods they studied the allelic diversity at the HLA-DQA locus and its association with the serologically defined HLA-DR and -DQ types. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3174659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Briata, P., Radka, S. F., Sartoris, S., Lee, J. S. <strong>Alternative splicing of HLA-DQB transcripts and secretion of HLA-DQ beta-chain proteins: allelic polymorphism in splicing and polyadenylylation (sic) sites.</strong> Proc. Nat. Acad. Sci. 86: 1003-1007, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2464826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2464826</a>] [<a href="https://doi.org/10.1073/pnas.86.3.1003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2464826">Briata et al. (1989)</a> presented evidence suggesting that polymorphic cis-acting elements within the HLA-DQB gene (<a href="/entry/604305">604305</a>) control both splicing and polyadenylation. They demonstrated allelic polymorphism for both alternative splicing and read-through of polyadenylation. <a href="#8" class="mim-tip-reference" title="Cohen, D., Cohen, O., Marcadet, A., Massart, C., Lathrop, M., Deschamps, I., Hors, J., Schuller, E., Dausset, J. <strong>Class II HLA-DC beta-chain DNA restriction fragments differentiate among HLA-DR2 individuals in insulin-dependent diabetes and multiple sclerosis.</strong> Proc. Nat. Acad. Sci. 81: 1774-1778, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6324215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6324215</a>] [<a href="https://doi.org/10.1073/pnas.81.6.1774" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6324215">Cohen et al. (1984)</a> suggested that DNA polymorphism in the beta-chain of HLA-DC may differentiate among HLA-DR2 individuals with type I diabetes (IDDM; <a href="/entry/222100">222100</a>) and multiple sclerosis (see <a href="/entry/126200">126200</a>). HLA-DR2 is negatively correlated with type I diabetes; whereas 1 fragment of an EcoRI RFLP of DC was strongly correlated with DR2 in the normal population, it was absent in type I diabetes. In multiple sclerosis patients, it showed the same frequency as in the normal population. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2464826+6324215" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Todd, J. A., Bell, J. I., McDevitt, H. O. <strong>HLA-DQ(beta) gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus.</strong> Nature 329: 599-604, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3309680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3309680</a>] [<a href="https://doi.org/10.1038/329599a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3309680">Todd et al. (1987)</a> presented a map of the class II loci. They suggested that the structure of the DQ molecule, in particular residue 57 of the beta-chain, specifies the autoimmune response against insulin-producing islet cells that leads to insulin-dependent diabetes mellitus (IDDM). Of the approximately 14 class II HLA genes within the HLA-D region, the DQ3.2-beta gene accounts for the well-documented association of HLA-DR4 with insulin-dependent diabetes mellitus and is the single allele most highly correlated with this disease. <a href="#19" class="mim-tip-reference" title="Kwok, W. W., Lotshaw, C., Milner, E. C. B., Knitter-Jack, N., Nepom, G. T. <strong>Mutational analysis of the HLA-DQ3.2 insulin-dependent diabetes mellitus susceptibility gene.</strong> Proc. Nat. Acad. Sci. 86: 1027-1030, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2783780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2783780</a>] [<a href="https://doi.org/10.1073/pnas.86.3.1027" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2783780">Kwok et al. (1989)</a> found that amino acid 45 was critical for generating serologic epitopes characterizing the DQ3.2-beta gene and its nondiabetic allele, DQ3.1-beta. <a href="#35" class="mim-tip-reference" title="Todd, J. A., Fukui, Y., Kitagawa, T., Sasazuki, T. <strong>The A3 allele of the HLA-DQA1 locus is associated with susceptibility to type 1 diabetes in Japanese.</strong> Proc. Nat. Acad. Sci. 87: 1094-1098, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2300572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2300572</a>] [<a href="https://doi.org/10.1073/pnas.87.3.1094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2300572">Todd et al. (1990)</a> found that in Japanese, IDDM was more strongly associated with HLA-DQ than with HLA-DR; that the A3 allele at the DQA1 locus was most strongly associated with disease; that the DQw8 allele of the DQB1 locus, which is associated with susceptibility to type I diabetes in Caucasians and Blacks, was not increased in frequency in Japanese patients; and that asp57-encoding DQB1 alleles, which are associated with reduced susceptibility to type I diabetes in Caucasians, was present in all except 1 of 49 Japanese patients and in all of 31 controls, in at least heterozygous state. Forty percent of patients were homozygous for asp57-encoding DQB1 alleles versus 35% of controls. The high frequency of asp57-encoding DQB1 alleles in Japanese may account for the rarity of type I diabetes in Japan. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2783780+3309680+2300572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By the use of PCR amplification and nonradioactive oligonucleotide probes, <a href="#15" class="mim-tip-reference" title="Helmuth, R., Fildes, N., Blake, E., Luce, M. C., Chimera, J., Madej, R., Gorodezky, C., Stoneking, M., Schmill, N., Klitz, W., Higuchi, R., Erlich, H. A. <strong>HLA-DQ-alpha allele and genotype frequencies in various human populations, determined by using enzymatic amplification and oligonucleotide probes.</strong> Am. J. Hum. Genet. 47: 515-523, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2393024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2393024</a>]" pmid="2393024">Helmuth et al. (1990)</a> determined allele and genotype frequencies at the HLA-DQ-alpha locus. The probes they used defined 6 alleles and 21 genotypes in a dot-blot format. From a typing of over 1,400 individuals from 11 populations, they concluded that in contrast to some VNTR markers used for identity determination, DQ-alpha genotype frequencies do not deviate significantly from Hardy-Weinberg equilibrium. The distribution of alleles varied significantly between most of these populations. In Caucasians, the allele frequencies ranged from 4.3 to 28.5%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2393024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By DNA typing of HLA-D variants, <a href="#22" class="mim-tip-reference" title="Meyer, C. G., Gallin, M., Erttmann, K. D., Brattig, N., Schnittger, L., Gelhaus, A., Tannich, E., Begovich, A. B., Erlich, H. A., Horstmann, R. D. <strong>HLA-D alleles associated with generalized disease, localized disease, and putative immunity in Onchocerca volvulus infection.</strong> Proc. Nat. Acad. Sci. 91: 7515-7519, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8052611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8052611</a>] [<a href="https://doi.org/10.1073/pnas.91.16.7515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8052611">Meyer et al. (1994)</a> found striking differences in the distribution of variants among residents in a West African area hyperendemic for onchocerciasis, according to whether they had generalized onchocerciasis, localized onchocerciasis, or were putatively immune. The haplotype DQA1*0501-DQB1*0301 was significantly more frequent among putatively immune individuals than among patients with generalized or localized disease. Conversely, DQA1*0101-DQB1*0501 and, independently, the allele DQB1*0201 were more frequent in generalized disease than in localized disease or putative immunity. In these correlations, the frequencies of allelic variants were in localized disease intermediate to those of the 2 other groups. The only distinct association found with localized disease was that of the DP allele DPB1*0402. All forms of onchocerciasis are characterized by high serum IgE concentrations and eosinophilia, which reflect strong type 2 CD4(+) T-lymphocyte responses. Animal studies had previously indicated an influence of class II alleles of the major histocompatibility complex on IgE responses and protective immunity in parasitic nematode infections such as this; the results of the study by <a href="#22" class="mim-tip-reference" title="Meyer, C. G., Gallin, M., Erttmann, K. D., Brattig, N., Schnittger, L., Gelhaus, A., Tannich, E., Begovich, A. B., Erlich, H. A., Horstmann, R. D. <strong>HLA-D alleles associated with generalized disease, localized disease, and putative immunity in Onchocerca volvulus infection.</strong> Proc. Nat. Acad. Sci. 91: 7515-7519, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8052611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8052611</a>] [<a href="https://doi.org/10.1073/pnas.91.16.7515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8052611">Meyer et al. (1994)</a> appear to indicate the same for infections with the tissue nematode Onchocerca volvulus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8052611" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Ferber, K. M., Keller, E., Albert, E. D., Ziegler, A.-G. <strong>Predictive value of human leukocyte antigen class II typing for the development of islet autoantibodies and insulin-dependent diabetes postpartum in women with gestational diabetes.</strong> J. Clin. Endocr. Metab. 84: 2342-2348, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10404800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10404800</a>] [<a href="https://doi.org/10.1210/jcem.84.7.5813" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10404800">Ferber et al. (1999)</a> evaluated the association of HLA class II alleles DR and DQ with gestational diabetes mellitus (GDM) and the postpartum development of IDDM. DR3 allele frequency was significantly increased in 43 women with islet autoantibodies, in particular in those with glutamic acid decarboxylase autoantibodies (GADA), or in the 24 women who developed IDDM postpartum. In women with GADA, DR4 and DQB1*0302 were significantly elevated. Twenty-five (59.5%) islet antibody-positive women and 17 (74%) women who developed IDDM postpartum had a DR3- or DR4-containing genotype. The cumulative risk to develop IDDM within 2 years postpartum in GDM women with either DR3 or DR4 was 22%, compared to 7% in women without those alleles and rose to 50% in the DR3- or DR4-positive women who had required insulin during pregnancy. Combining the determination of the susceptible HLA alleles DR3 and DR4 with islet autoantibody measurement increased the sensitivity of identifying GDM women developing postpartum IDDM to 92%, but did not improve risk assessment above that achieved using GADA measurement alone, which was the strongest predictor of IDDM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10404800" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Suzuki, Y., Wong, S.-Y., Grumet, F. C., Fessel, J., Montoya, J. G., Zolopa, A. R., Portmore, A., Schumacher-Perdreau, F., Schrappe, M., Koppen, S., Ruf, B., Brown, B. W., Remington, J. S. <strong>Evidence for genetic regulation of susceptibility to toxoplasmic encephalitis in AIDS patients.</strong> J. Infect. Dis. 173: 265-268, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8537674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8537674</a>] [<a href="https://doi.org/10.1093/infdis/173.1.265" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8537674">Suzuki et al. (1996)</a> found that the HLA-DQ3 antigen was significantly more frequent in white North American AIDS patients with toxoplasmic encephalitis (85%) than in the general white population (51.8%) or randomly selected control AIDS patients who had not developed toxoplasmic encephalitis (40%). In contrast, the frequency of HLA-DQ1 was lower in toxoplasmic encephalitis patients than in healthy controls, but this difference did not reach statistical significance when corrected for the number of variables tested. HLA-DQ3 thus appeared to be a genetic marker of susceptibility to development of toxoplasmic encephalitis in AIDS patients, and DQ1 may be a resistance marker. The authors speculated that HLA-DQ typing may help in decisions regarding toxoplasmic encephalitis prophylaxis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8537674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using Y chromosome-specific PCR in T lymphocytes from women with and without scleroderma (<a href="/entry/181750">181750</a>) who had given birth to at least 1 son, <a href="#20" class="mim-tip-reference" title="Lambert, N. C., Evans, P. C., Hashizumi, T. L., Maloney, S., Gooley, T., Furst, D. E., Nelson, J. L. <strong>Cutting edge: persistent fetal microchimerism in T lymphocytes is associated with HLA-DQA1*0501: implications in autoimmunity.</strong> J. Immun. 164: 5545-5548, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10820227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10820227</a>] [<a href="https://doi.org/10.4049/jimmunol.164.11.5545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10820227">Lambert et al. (2000)</a> observed that fetal microchimerism among T lymphocytes was strongly associated with HLA DQA1*0501 of the mother and even more strongly associated with HLA DQA1*0501 of the son, regardless of scleroderma status. The authors suggested that fetal microchimerism may be an additional route by which HLA genes contribute to susceptibility to autoimmune disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10820227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The primary HLA association in most patients with celiac disease (<a href="/entry/212750">212750</a>) is with DQ2 (DQA*05/DQB1*02) and in a minority of patients with DQ8 (DQA1*03/DQB1*0302). <a href="#18" class="mim-tip-reference" title="Kim, C.-Y., Quarsten, H., Bergseng, E., Khosla, C., Sollid, L. M. <strong>Structural basis for HLA-DQ2-mediated presentation of gluten epitopes in celiac disease.</strong> Proc. Nat. Acad. Sci. 101: 4175-4179, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15020763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15020763</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15020763[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0306885101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15020763">Kim et al. (2004)</a> studied the x-ray crystal structure of the soluble domain of HLA-DQ2 bound to the deamidated gluten epitope alpha-I-gliadin. They concluded that the HLA association in celiac disease can be explained by a superior ability of DQ2 to bind the biased repertoire of proline-rich gluten peptides that have survived gastrointestinal digestion and that have been deamidated by tissue transglutaminase. Furthermore, they showed that surface-exposed proline residues in the proteolytically resistant ligand could be replaced with functionalized analogs, thereby providing a starting point for the design of orally active agents for blocking gluten-induced toxicity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15020763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Hovhannisyan, Z., Weiss, A., Martin, A., Wiesner, M., Tollefsen, S., Yoshida, K., Ciszewski, C., Curran, S. A., Murray, J. A., David, C. S., Sollid, L. M., Koning, F., Teyton, L., Jabri, B. <strong>The role of HLA-DQ8 beta-57 polymorphism in the anti-gluten T-cell response in coeliac disease.</strong> Nature 456: 534-538, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19037317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19037317</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19037317[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature07524" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19037317">Hovhannisyan et al. (2008)</a> showed that the HLA-DQ8 beta-57 polymorphism (lacking the canonical aspartic acid residue at position 57) promotes the recruitment of T cell receptors bearing a negative signature charge in the complementary determining region 3-beta (CDR3-beta) during the response against native gluten peptides presented by HLA-DQ8 in celiac disease. These T cells showed a cross-reactive and heteroclitic (stronger) response to deamidated gluten peptides. Furthermore, gluten peptide deamidation extended the T cell receptor repertoire by relieving the requirement for a charged residue in CDR3-beta. Thus, <a href="#16" class="mim-tip-reference" title="Hovhannisyan, Z., Weiss, A., Martin, A., Wiesner, M., Tollefsen, S., Yoshida, K., Ciszewski, C., Curran, S. A., Murray, J. A., David, C. S., Sollid, L. M., Koning, F., Teyton, L., Jabri, B. <strong>The role of HLA-DQ8 beta-57 polymorphism in the anti-gluten T-cell response in coeliac disease.</strong> Nature 456: 534-538, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19037317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19037317</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19037317[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature07524" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19037317">Hovhannisyan et al. (2008)</a> concluded that the lack of a negative charge at position beta-57 in MHC class II was met by negatively charged residues in the T cell receptor or in the peptide, the combination of which might explain the role of HLA-DQ8 in amplifying the T cell response against dietary gluten. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19037317" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of a possible association between the HLA-DQA1*0201 allele and susceptibility to podoconiosis, see <a href="/entry/614590">614590</a>.</p><p><a href="#31" class="mim-tip-reference" title="Stanescu, H. C., Arcos-Burgos, M., Medlar, A., Bockenhauer, D., Kottgen, A., Dragomirescu, L., Voinescu, C., Patel, N., Pearce, K., Hubank, M., Stephens, H. A. F., Laundy, V., and 17 others. <strong>Risk HLA-DQA1 and PLA2R1 alleles in idiopathic membranous nephropathy.</strong> New Eng. J. Med. 364: 616-626, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21323541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21323541</a>] [<a href="https://doi.org/10.1056/NEJMoa1009742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21323541">Stanescu et al. (2011)</a> showed significant association between the HLA-DQA1 variant <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2187668;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2187668</a> and idiopathic membranous nephropathy (<a href="/entry/614692">614692</a>) with an overall p value of 8.0 x 10(-93) in 3 populations: French, Dutch, and British. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21323541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Early studies of ancient DNA focused on mitochondrial or chloroplast genes, present at hundreds to thousands of copies per cell compared to 1 or 2 for each nuclear gene. However, using a probe containing Alu repeat sequences, <a href="#27" class="mim-tip-reference" title="Paabo, S. <strong>Molecular cloning of ancient Egyptian mummy DNA.</strong> Nature 314: 644-645, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3990798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3990798</a>] [<a href="https://doi.org/10.1038/314644a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3990798">Paabo (1985)</a> isolated a 3.4-kb DNA fragment from a 2,400-year-old Egyptian mummy, which was subsequently shown to contain an intron of the nuclear gene HLA-DQA (<a href="#11" class="mim-tip-reference" title="Del Pozzo, G., Guardiola, J. <strong>Mummy DNA fragment identified. (Letter)</strong> Nature 339: 431-432, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2498665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2498665</a>] [<a href="https://doi.org/10.1038/339431b0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2498665">Del Pozzo and Guardiola, 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2498665+3990798" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Studies supporting a role for HLA-DQ polymorphism in human rheumatoid arthritis (<a href="/entry/180300">180300</a>) were reported by <a href="#24" class="mim-tip-reference" title="Nabozny, G. H., Baisch, J. M., Cheng, S., Cosgrove, D., Griffiths, M. M., Luthra, H. S., David, C. S. <strong>HLA-DQ8 transgenic mice are highly susceptible to collagen-induced arthritis: a novel model for human polyarthritis.</strong> J. Exp. Med. 183: 27-37, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8551230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8551230</a>] [<a href="https://doi.org/10.1084/jem.183.1.27" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8551230">Nabozny et al. (1996)</a> and <a href="#6" class="mim-tip-reference" title="Bradley, D. S., Nabozny, G. H., Cheng, S., Zhou, P., Griffiths, M. M., Luthra, H. S., David, C. S. <strong>HLA-DQB1 polymorphism determines incidence, onset, and severity of collagen-induced arthritis in transgenic mice: implications in human rheumatoid arthritis.</strong> J. Clin. Invest. 100: 2227-2234, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9410900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9410900</a>] [<a href="https://doi.org/10.1172/JCI119760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9410900">Bradley et al. (1997)</a>. <a href="#24" class="mim-tip-reference" title="Nabozny, G. H., Baisch, J. M., Cheng, S., Cosgrove, D., Griffiths, M. M., Luthra, H. S., David, C. S. <strong>HLA-DQ8 transgenic mice are highly susceptible to collagen-induced arthritis: a novel model for human polyarthritis.</strong> J. Exp. Med. 183: 27-37, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8551230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8551230</a>] [<a href="https://doi.org/10.1084/jem.183.1.27" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8551230">Nabozny et al. (1996)</a> demonstrated that mice transgenic for HLA-DQ8, a DQ allele associated with susceptibility to RA, developed severe arthritis after type II collagen immunization. <a href="#6" class="mim-tip-reference" title="Bradley, D. S., Nabozny, G. H., Cheng, S., Zhou, P., Griffiths, M. M., Luthra, H. S., David, C. S. <strong>HLA-DQB1 polymorphism determines incidence, onset, and severity of collagen-induced arthritis in transgenic mice: implications in human rheumatoid arthritis.</strong> J. Clin. Invest. 100: 2227-2234, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9410900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9410900</a>] [<a href="https://doi.org/10.1172/JCI119760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9410900">Bradley et al. (1997)</a> generated mice transgenic for HLA-DQ6, an allele associated with a nonsusceptible haplotype, and found that the DQ6 mice were resistant to collagen-induced arthritis. They also assessed the combined effect of an RA-susceptible and an RA-nonassociated DQ allele by producing double-transgenic mice expressing both DQ6 and DQ8 molecules, representing the more prevalent condition found in humans where heterozygosity at the DQ allele is common. The double-transgenic mice developed moderate collagen-induced arthritis when immunized with type II collagen as compared with the severe arthritis observed in DQ8 transgenic mice, much like RA patients bearing both susceptible and nonsusceptible HLA haplotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8551230+9410900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#37" class="mim-tip-reference" title="Wen, L., Wong, F. S., Tang, J., Chen, N.-Y., Altieri, M., David, C., Flavell, R., Sherwin, R. <strong>In vivo evidence for the contribution of human histocompatibility leukocyte antigen (HLA)-DQ molecules to the development of diabetes.</strong> J. Exp. Med. 191: 97-104, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10620608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10620608</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10620608[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1084/jem.191.1.97" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10620608">Wen et al. (2000)</a> replaced the mouse MHC class II molecule with human DQ8 in C57BL/6 mice and expressed the immune costimulatory molecule B7-1 on the beta cells of the mouse pancreatic islets. Eighty percent of these transgenic mice developed autoimmune type I diabetes. Neither the B7-1 transgene alone, nor the replacement of the mouse class II allele with human DQ8 alone, caused the mice to become diabetic. Thus the autoimmune attack on pancreatic beta cells probably involves both CD4 and CD8 T cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10620608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Abadie, V., Kim, S. M., Lejeune, T., Palanski, B. A., Ernest, J. D., Tastet, O., Voisine, J., Discepolo, V., Marietta, E. V., Hawash, M. B. F., Ciszewski, C., Bouziat, R., and 11 others. <strong>IL-15, gluten and HLA-DQ8 drive tissue destruction in coeliac disease.</strong> Nature 578: 600-604, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32051586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32051586</a>] [<a href="https://doi.org/10.1038/s41586-020-2003-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32051586">Abadie et al. (2020)</a> described a mouse model that reproduces the overexpression of IL15 (<a href="/entry/600554">600554</a>) in the gut epithelium and lamina propria that is characteristic of active celiac disease (<a href="/entry/212750">212750</a>), expresses the predisposing HLA-DQ8 molecule, and develops villous atrophy after ingestion of gluten. Overexpression of IL15 in both the epithelium and the lamina propria was required for the development of villous atrophy, which demonstrated the location-dependent central role of IL15 in the pathogenesis of celiac disease. In addition, <a href="#1" class="mim-tip-reference" title="Abadie, V., Kim, S. M., Lejeune, T., Palanski, B. A., Ernest, J. D., Tastet, O., Voisine, J., Discepolo, V., Marietta, E. V., Hawash, M. B. F., Ciszewski, C., Bouziat, R., and 11 others. <strong>IL-15, gluten and HLA-DQ8 drive tissue destruction in coeliac disease.</strong> Nature 578: 600-604, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32051586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32051586</a>] [<a href="https://doi.org/10.1038/s41586-020-2003-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32051586">Abadie et al. (2020)</a> showed that CD4+ T cells and HLA-DQ8 have a crucial role in the licensing of cytotoxic T cells to mediate intestinal epithelial cell lysis. <a href="#1" class="mim-tip-reference" title="Abadie, V., Kim, S. M., Lejeune, T., Palanski, B. A., Ernest, J. D., Tastet, O., Voisine, J., Discepolo, V., Marietta, E. V., Hawash, M. B. F., Ciszewski, C., Bouziat, R., and 11 others. <strong>IL-15, gluten and HLA-DQ8 drive tissue destruction in coeliac disease.</strong> Nature 578: 600-604, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32051586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32051586</a>] [<a href="https://doi.org/10.1038/s41586-020-2003-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32051586">Abadie et al. (2020)</a> also demonstrated a role for the cytokine interferon-gamma (IFNG; <a href="/entry/147570">147570</a>) and the enzyme transglutaminase-2 (TGM2; <a href="/entry/190196">190196</a>) in tissue destruction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32051586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Accolla1981" class="mim-tip-reference" title="Accolla, R. S., Gross, N., Carrel, S., Corte, G. <strong>Distinct forms of both alpha and beta subunits are present in the human Ia molecular pool.</strong> Proc. Nat. Acad. Sci. 78: 4549-4551, 1981.">Accolla et al. (1981)</a>; <a href="#Moriuchi1985" class="mim-tip-reference" title="Moriuchi, J., Moriuchi, T., Silver, J. <strong>Nucleotide sequence of an HLA-DQ alpha chain derived from a DRw9 cell line: genetic and evolutionary implications.</strong> Proc. Nat. Acad. Sci. 82: 3420-3424, 1985.">Moriuchi et al. (1985)</a>; <a href="#Nadler1981" class="mim-tip-reference" title="Nadler, L. M., Stashenko, P., Hardy, R., Tomaselli, K. J., Yunis, E. J., Schlossman, S. F., Pesando, J. M. <strong>Monoclonal antibody identifies a new Ia-like (p29,34) polymorphic system linked to the HLA-D/DR region.</strong> Nature 290: 591-593, 1981.">Nadler et al. (1981)</a>; <a href="#Schenning1984" class="mim-tip-reference" title="Schenning, L., Larhammar, D., Bill, P., Wiman, K., Jonsson, A.-K., Rask, L., Peterson, P. A. <strong>Both alpha and beta chains of HLA-DC class II histocompatibility antigens display extensive polymorphism in their amino-terminal domains.</strong> EMBO J. 3: 447-452, 1984.">Schenning et al. (1984)</a>
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Abadie, V., Kim, S. M., Lejeune, T., Palanski, B. A., Ernest, J. D., Tastet, O., Voisine, J., Discepolo, V., Marietta, E. V., Hawash, M. B. F., Ciszewski, C., Bouziat, R., and 11 others.
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<strong>IL-15, gluten and HLA-DQ8 drive tissue destruction in coeliac disease.</strong>
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Nature 578: 600-604, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32051586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32051586</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32051586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.6165083" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6166865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6166865</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6166865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6974868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6974868</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6974868" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.78.7.4566" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="30" class="mim-anchor"></a>
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<a id="Sorrentino1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sorrentino, R., Corte, G., Calabi, F., Tanigaki, N., Tosi, R.
|
|
<strong>Microfingerprinting analysis of human Ia molecules favours a three loci model.</strong>
|
|
Molec. Immun. 20: 333-343, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6191204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6191204</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6191204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0161-5890(83)90073-1" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="31" class="mim-anchor"></a>
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<a id="Stanescu2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Stanescu, H. C., Arcos-Burgos, M., Medlar, A., Bockenhauer, D., Kottgen, A., Dragomirescu, L., Voinescu, C., Patel, N., Pearce, K., Hubank, M., Stephens, H. A. F., Laundy, V., and 17 others.
|
|
<strong>Risk HLA-DQA1 and PLA2R1 alleles in idiopathic membranous nephropathy.</strong>
|
|
New Eng. J. Med. 364: 616-626, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21323541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21323541</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21323541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJMoa1009742" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="32" class="mim-anchor"></a>
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<a id="Suzuki1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Suzuki, Y., Wong, S.-Y., Grumet, F. C., Fessel, J., Montoya, J. G., Zolopa, A. R., Portmore, A., Schumacher-Perdreau, F., Schrappe, M., Koppen, S., Ruf, B., Brown, B. W., Remington, J. S.
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|
<strong>Evidence for genetic regulation of susceptibility to toxoplasmic encephalitis in AIDS patients.</strong>
|
|
J. Infect. Dis. 173: 265-268, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8537674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8537674</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8537674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/infdis/173.1.265" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="33" class="mim-anchor"></a>
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<a id="Tanigaki1980" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Tanigaki, N., Tosi, R., Pressman, D., Ferrara, G. B.
|
|
<strong>Molecular identification of human Ia antigens coded for by a gene closely linked to HLA-DR locus.</strong>
|
|
Immunogenetics 10: 151-167, 1980.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6932390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6932390</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6932390" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01561564" target="_blank">Full Text</a>]
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<li>
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<a id="34" class="mim-anchor"></a>
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<a id="Todd1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Todd, J. A., Bell, J. I., McDevitt, H. O.
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<strong>HLA-DQ(beta) gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus.</strong>
|
|
Nature 329: 599-604, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3309680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3309680</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3309680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/329599a0" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="35" class="mim-anchor"></a>
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<a id="Todd1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Todd, J. A., Fukui, Y., Kitagawa, T., Sasazuki, T.
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<strong>The A3 allele of the HLA-DQA1 locus is associated with susceptibility to type 1 diabetes in Japanese.</strong>
|
|
Proc. Nat. Acad. Sci. 87: 1094-1098, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2300572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2300572</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2300572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.87.3.1094" target="_blank">Full Text</a>]
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<li>
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<a id="36" class="mim-anchor"></a>
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<a id="Tosi1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tosi, R., Tanigaki, N., Cantis, D., Ferrara, G. B., Pressman, D.
|
|
<strong>Immunological dissection of human Ia molecules.</strong>
|
|
J. Exp. Med. 148: 1592-1611, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/82605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">82605</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=82605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1084/jem.148.6.1592" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="37" class="mim-anchor"></a>
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<a id="Wen2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wen, L., Wong, F. S., Tang, J., Chen, N.-Y., Altieri, M., David, C., Flavell, R., Sherwin, R.
|
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<strong>In vivo evidence for the contribution of human histocompatibility leukocyte antigen (HLA)-DQ molecules to the development of diabetes.</strong>
|
|
J. Exp. Med. 191: 97-104, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10620608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10620608</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10620608[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10620608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1084/jem.191.1.97" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Ada Hamosh - updated : 03/25/2021
|
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</span>
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</div>
|
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</div>
|
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<div class="row collapse" id="mimCollapseContributors">
|
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
|
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Ada Hamosh - updated : 6/20/2012<br>Paul J. Converse - updated : 4/12/2012<br>Ada Hamosh - updated : 1/9/2009<br>Victor A. McKusick - updated : 4/28/2004<br>George E. Tiller - updated : 2/18/2002<br>Paul J. Converse - updated : 9/21/2000<br>Wilson H. Y. Lo - updated : 7/21/2000<br>John A. Phillips, III - updated : 3/20/2000<br>Victor A. McKusick - updated : 1/20/1998
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Victor A. McKusick : 6/2/1986
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
alopez : 03/25/2021
|
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</span>
|
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</div>
|
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</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
alopez : 12/11/2014<br>alopez : 6/25/2012<br>terry : 6/20/2012<br>mgross : 4/24/2012<br>terry : 4/12/2012<br>terry : 4/21/2011<br>mgross : 7/26/2010<br>carol : 5/28/2009<br>alopez : 1/13/2009<br>terry : 1/9/2009<br>tkritzer : 5/5/2004<br>terry : 4/28/2004<br>carol : 2/12/2003<br>cwells : 2/18/2002<br>mgross : 9/21/2000<br>carol : 7/21/2000<br>alopez : 6/19/2000<br>terry : 3/20/2000<br>alopez : 12/7/1999<br>alopez : 12/3/1999<br>dkim : 7/2/1998<br>terry : 1/20/1998<br>mark : 11/20/1997<br>jenny : 11/19/1997<br>terry : 11/10/1997<br>mark : 3/4/1996<br>terry : 2/21/1996<br>mark : 12/20/1995<br>terry : 8/31/1994<br>carol : 10/20/1993<br>carol : 1/6/1993<br>carol : 8/20/1992<br>carol : 8/19/1992<br>supermim : 3/16/1992
|
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</span>
|
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</div>
|
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
|
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<h3>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 146880
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ ALPHA-1; HLA-DQA1
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
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<br />
|
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</div>
|
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<div>
|
|
<div >
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
HLA-DQA<br />
|
|
HLADC HISTOCOMPATIBILITY TYPE; HLA-DQ
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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|
<div>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
IMMUNE RESPONSE ANTIGENS HIa, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
<div>
|
|
<span class="h4 mim-font">
|
|
|
|
DC1, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
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|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: HLA-DQA1</em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
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<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 6p21.32
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 6:32,637,406-32,655,272 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
6p21.32
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
{Celiac disease, susceptibility to}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
212750
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive; Multifactorial
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
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</tbody>
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<strong>Cloning and Expression</strong>
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<p>The human Ia, or Ia-like, antigens are a group of cell-membrane alloantigens that are expressed mainly on B cells and are homologs of mouse Ia antigens. In analogy to mouse Ia, multiple loci were thought to be involved. Family and population data had suggested the existence of 2 human Ia loci (e.g., Duquesnoy et al., 1979), only 1 of which is controlled by the HLA-DR locus (142860). Tosi et al. (1978) defined an Ia specificity distinct from HLA-DR. Tanigaki et al. (1980) distinguished a third species of molecules carrying an Ia specificity. </p><p>Hsu et al. (1981) used in vitro lymphoproliferative response to synthetic polypeptides to study immune response (Ir) genes. They concluded that the human Ir genes are polymorphic, with alleles controlling different levels of responsiveness. They suggested that the locus they studied, presumably the homolog of Ir-1 of mouse, is closer to HLA-B than to HLA-D. The Ia molecules, glycoproteins, have alpha and beta polypeptide chains with a molecular mass of 33 and 28 kD, respectively. Like the histocompatibility antigens, they are components of the cell membrane with a long extramembrane portion and a short extension inside the cell membrane. The HLA antigens, of molecular mass 45 kD, have a similar transmembrane positioning and are dimeric because of the association with beta-microglobulin (B2M), which has no intramembrane tail. In the mouse, the Ir genes, which determine the Ia molecules, are multiple with 5 closely linked regions designated I-A, I-B, I-J, I-E, I-C, according to one model (Benacerraf, 1981). The model for explaining the results of experiments on responsiveness to synthetic polypeptides suggests the existence of multiple genes in at least 3 of the 5 regions. The alpha and beta chains are determined by 2 separate genes in the I-A region in the case of some Ia molecules. In the case of other Ia molecules, the beta chain is determined by a gene in the I-A region and the alpha chain by a gene in the I-E region. Thus, this is an apparent exception to the general rule of nonsynteny of genes determining the separate components of a heteromeric protein. The necessary involvement of 2 genes in the synthesis of the alpha and beta chains explains the phenomenon of interlocus complementation in immune response genes, as demonstrated by Hsu et al. (1981) in man. For a review, see Benacerraf (1981). </p><p>Several genetic markers of human Ia molecules, each recognized by specific alloantisera, have been identified: DR1, 2, 3, 4, 5, w6, 7, w8, w9, and w10. They are controlled by a single locus, HLA-DR. DC1 represents a specificity that shows population association with DR1, 2 and w6, but is carried by a different molecular species. Thus, DC1 reflects a locus distinct from, but closely linked to, DR. Corte et al. (1981) developed a monoclonal reagent specifically directed against DC1 and used it for the structural analysis of DC1 molecules as compared with Ia molecules carrying DR determinants. Shackelford et al. (1981) concluded that some human B-lymphoblastoid cell lines express at least 2 types of Ia-like antigens. One antigen is defined by alloantisera to HLA-DR. The other is defined by alloantisera and by a monoclonal antibody to specificities DC1, MT1, and LB12, which are identical to each other and are in linkage disequilibrium with HLA-DR. The subunits of the DC1 molecule differ from those of the DR molecule. The light (or beta) chains of both molecules are structurally polymorphic. DR is thought to be particularly analogous to the I-E/C antigen encoded in the H2 complex of the mouse. </p><p>The amino-terminal sequences of the DC1 heavy chain show homology to the mouse I-A alpha chain (Bono and Strominger, 1982). </p><p>Auffray et al. (1982) isolated a cDNA clone for the heavy chain of the human B cell alloantigen DC1, which has 232 amino acids. An external domain and the transmembrane region of the DC1 heavy chain showed strong sequence homology to the corresponding portions of the HLA-DR heavy chain. Sorrentino et al. (1983) concluded that there are 3 tightly linked HLA loci controlling the beta subunits of DR, DC, and BR molecules, respectively. Under conditions of high stringency and considering the most intensely hybridizing bands, 1 gene locus each was recognized by HLA-DR alpha and HLA-DR beta probes and 2 by the HLA-DC beta probe (Levine et al., 1984). By study of variants with various breakpoints, they defined 3 subregions in the following order from the centromere distally: subregion I, HLA-DC beta-1; subregion II, HLA-DC beta-2 and HLA-DR alpha; subregion III, HLA-DR beta. The DC and DX (613503) subregions, part of DQ, were studied by Okada et al. (1985) by molecular genetic techniques. </p>
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<strong>Biochemical Features</strong>
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<p><strong><em>Crystal Structure</em></strong></p><p>
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Cucca et al. (2001) predicted the protein structure of HLA-DQ by using the published crystal structures of different allotypes of the murine ortholog of DQ, IA. There were marked similarities both within and across species between type 1 diabetes protective class II molecules. Likewise, the type 1 diabetes predisposing molecules DR and murine IE showed conserved similarities that contrasted with the shared patterns observed between the protective molecules. There was also inter-isotypic conservation between protective DQ, IA allotypes, and protective DR4 subtypes. The authors proposed a model for a joint action of the class II peptide-binding pockets P1, P4, and P9 in disease susceptibility and resistance with a main role for P9 in DQ/IA and for P1 and P4 in DR/IE. They suggested shared epitope(s) in the target autoantigen(s) and common pathways in human and murine type 1 diabetes. </p>
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<strong>Molecular Genetics</strong>
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<p>Gyllensten and Erlich (1988) showed that it is possible in a single step to amplify a single-copy gene and produce an excess of single-stranded DNA of a chosen strand for direct sequencing or for use as a hybridization probe. Furthermore, individual alleles in the heterozygote can be sequenced directly. Using these methods they studied the allelic diversity at the HLA-DQA locus and its association with the serologically defined HLA-DR and -DQ types. </p><p>Briata et al. (1989) presented evidence suggesting that polymorphic cis-acting elements within the HLA-DQB gene (604305) control both splicing and polyadenylation. They demonstrated allelic polymorphism for both alternative splicing and read-through of polyadenylation. Cohen et al. (1984) suggested that DNA polymorphism in the beta-chain of HLA-DC may differentiate among HLA-DR2 individuals with type I diabetes (IDDM; 222100) and multiple sclerosis (see 126200). HLA-DR2 is negatively correlated with type I diabetes; whereas 1 fragment of an EcoRI RFLP of DC was strongly correlated with DR2 in the normal population, it was absent in type I diabetes. In multiple sclerosis patients, it showed the same frequency as in the normal population. </p><p>Todd et al. (1987) presented a map of the class II loci. They suggested that the structure of the DQ molecule, in particular residue 57 of the beta-chain, specifies the autoimmune response against insulin-producing islet cells that leads to insulin-dependent diabetes mellitus (IDDM). Of the approximately 14 class II HLA genes within the HLA-D region, the DQ3.2-beta gene accounts for the well-documented association of HLA-DR4 with insulin-dependent diabetes mellitus and is the single allele most highly correlated with this disease. Kwok et al. (1989) found that amino acid 45 was critical for generating serologic epitopes characterizing the DQ3.2-beta gene and its nondiabetic allele, DQ3.1-beta. Todd et al. (1990) found that in Japanese, IDDM was more strongly associated with HLA-DQ than with HLA-DR; that the A3 allele at the DQA1 locus was most strongly associated with disease; that the DQw8 allele of the DQB1 locus, which is associated with susceptibility to type I diabetes in Caucasians and Blacks, was not increased in frequency in Japanese patients; and that asp57-encoding DQB1 alleles, which are associated with reduced susceptibility to type I diabetes in Caucasians, was present in all except 1 of 49 Japanese patients and in all of 31 controls, in at least heterozygous state. Forty percent of patients were homozygous for asp57-encoding DQB1 alleles versus 35% of controls. The high frequency of asp57-encoding DQB1 alleles in Japanese may account for the rarity of type I diabetes in Japan. </p><p>By the use of PCR amplification and nonradioactive oligonucleotide probes, Helmuth et al. (1990) determined allele and genotype frequencies at the HLA-DQ-alpha locus. The probes they used defined 6 alleles and 21 genotypes in a dot-blot format. From a typing of over 1,400 individuals from 11 populations, they concluded that in contrast to some VNTR markers used for identity determination, DQ-alpha genotype frequencies do not deviate significantly from Hardy-Weinberg equilibrium. The distribution of alleles varied significantly between most of these populations. In Caucasians, the allele frequencies ranged from 4.3 to 28.5%. </p><p>By DNA typing of HLA-D variants, Meyer et al. (1994) found striking differences in the distribution of variants among residents in a West African area hyperendemic for onchocerciasis, according to whether they had generalized onchocerciasis, localized onchocerciasis, or were putatively immune. The haplotype DQA1*0501-DQB1*0301 was significantly more frequent among putatively immune individuals than among patients with generalized or localized disease. Conversely, DQA1*0101-DQB1*0501 and, independently, the allele DQB1*0201 were more frequent in generalized disease than in localized disease or putative immunity. In these correlations, the frequencies of allelic variants were in localized disease intermediate to those of the 2 other groups. The only distinct association found with localized disease was that of the DP allele DPB1*0402. All forms of onchocerciasis are characterized by high serum IgE concentrations and eosinophilia, which reflect strong type 2 CD4(+) T-lymphocyte responses. Animal studies had previously indicated an influence of class II alleles of the major histocompatibility complex on IgE responses and protective immunity in parasitic nematode infections such as this; the results of the study by Meyer et al. (1994) appear to indicate the same for infections with the tissue nematode Onchocerca volvulus. </p><p>Ferber et al. (1999) evaluated the association of HLA class II alleles DR and DQ with gestational diabetes mellitus (GDM) and the postpartum development of IDDM. DR3 allele frequency was significantly increased in 43 women with islet autoantibodies, in particular in those with glutamic acid decarboxylase autoantibodies (GADA), or in the 24 women who developed IDDM postpartum. In women with GADA, DR4 and DQB1*0302 were significantly elevated. Twenty-five (59.5%) islet antibody-positive women and 17 (74%) women who developed IDDM postpartum had a DR3- or DR4-containing genotype. The cumulative risk to develop IDDM within 2 years postpartum in GDM women with either DR3 or DR4 was 22%, compared to 7% in women without those alleles and rose to 50% in the DR3- or DR4-positive women who had required insulin during pregnancy. Combining the determination of the susceptible HLA alleles DR3 and DR4 with islet autoantibody measurement increased the sensitivity of identifying GDM women developing postpartum IDDM to 92%, but did not improve risk assessment above that achieved using GADA measurement alone, which was the strongest predictor of IDDM. </p><p>Suzuki et al. (1996) found that the HLA-DQ3 antigen was significantly more frequent in white North American AIDS patients with toxoplasmic encephalitis (85%) than in the general white population (51.8%) or randomly selected control AIDS patients who had not developed toxoplasmic encephalitis (40%). In contrast, the frequency of HLA-DQ1 was lower in toxoplasmic encephalitis patients than in healthy controls, but this difference did not reach statistical significance when corrected for the number of variables tested. HLA-DQ3 thus appeared to be a genetic marker of susceptibility to development of toxoplasmic encephalitis in AIDS patients, and DQ1 may be a resistance marker. The authors speculated that HLA-DQ typing may help in decisions regarding toxoplasmic encephalitis prophylaxis. </p><p>Using Y chromosome-specific PCR in T lymphocytes from women with and without scleroderma (181750) who had given birth to at least 1 son, Lambert et al. (2000) observed that fetal microchimerism among T lymphocytes was strongly associated with HLA DQA1*0501 of the mother and even more strongly associated with HLA DQA1*0501 of the son, regardless of scleroderma status. The authors suggested that fetal microchimerism may be an additional route by which HLA genes contribute to susceptibility to autoimmune disease. </p><p>The primary HLA association in most patients with celiac disease (212750) is with DQ2 (DQA*05/DQB1*02) and in a minority of patients with DQ8 (DQA1*03/DQB1*0302). Kim et al. (2004) studied the x-ray crystal structure of the soluble domain of HLA-DQ2 bound to the deamidated gluten epitope alpha-I-gliadin. They concluded that the HLA association in celiac disease can be explained by a superior ability of DQ2 to bind the biased repertoire of proline-rich gluten peptides that have survived gastrointestinal digestion and that have been deamidated by tissue transglutaminase. Furthermore, they showed that surface-exposed proline residues in the proteolytically resistant ligand could be replaced with functionalized analogs, thereby providing a starting point for the design of orally active agents for blocking gluten-induced toxicity. </p><p>Hovhannisyan et al. (2008) showed that the HLA-DQ8 beta-57 polymorphism (lacking the canonical aspartic acid residue at position 57) promotes the recruitment of T cell receptors bearing a negative signature charge in the complementary determining region 3-beta (CDR3-beta) during the response against native gluten peptides presented by HLA-DQ8 in celiac disease. These T cells showed a cross-reactive and heteroclitic (stronger) response to deamidated gluten peptides. Furthermore, gluten peptide deamidation extended the T cell receptor repertoire by relieving the requirement for a charged residue in CDR3-beta. Thus, Hovhannisyan et al. (2008) concluded that the lack of a negative charge at position beta-57 in MHC class II was met by negatively charged residues in the T cell receptor or in the peptide, the combination of which might explain the role of HLA-DQ8 in amplifying the T cell response against dietary gluten. </p><p>For a discussion of a possible association between the HLA-DQA1*0201 allele and susceptibility to podoconiosis, see 614590.</p><p>Stanescu et al. (2011) showed significant association between the HLA-DQA1 variant rs2187668 and idiopathic membranous nephropathy (614692) with an overall p value of 8.0 x 10(-93) in 3 populations: French, Dutch, and British. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Other Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Early studies of ancient DNA focused on mitochondrial or chloroplast genes, present at hundreds to thousands of copies per cell compared to 1 or 2 for each nuclear gene. However, using a probe containing Alu repeat sequences, Paabo (1985) isolated a 3.4-kb DNA fragment from a 2,400-year-old Egyptian mummy, which was subsequently shown to contain an intron of the nuclear gene HLA-DQA (Del Pozzo and Guardiola, 1989). </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Studies supporting a role for HLA-DQ polymorphism in human rheumatoid arthritis (180300) were reported by Nabozny et al. (1996) and Bradley et al. (1997). Nabozny et al. (1996) demonstrated that mice transgenic for HLA-DQ8, a DQ allele associated with susceptibility to RA, developed severe arthritis after type II collagen immunization. Bradley et al. (1997) generated mice transgenic for HLA-DQ6, an allele associated with a nonsusceptible haplotype, and found that the DQ6 mice were resistant to collagen-induced arthritis. They also assessed the combined effect of an RA-susceptible and an RA-nonassociated DQ allele by producing double-transgenic mice expressing both DQ6 and DQ8 molecules, representing the more prevalent condition found in humans where heterozygosity at the DQ allele is common. The double-transgenic mice developed moderate collagen-induced arthritis when immunized with type II collagen as compared with the severe arthritis observed in DQ8 transgenic mice, much like RA patients bearing both susceptible and nonsusceptible HLA haplotypes. </p><p>Wen et al. (2000) replaced the mouse MHC class II molecule with human DQ8 in C57BL/6 mice and expressed the immune costimulatory molecule B7-1 on the beta cells of the mouse pancreatic islets. Eighty percent of these transgenic mice developed autoimmune type I diabetes. Neither the B7-1 transgene alone, nor the replacement of the mouse class II allele with human DQ8 alone, caused the mice to become diabetic. Thus the autoimmune attack on pancreatic beta cells probably involves both CD4 and CD8 T cells. </p><p>Abadie et al. (2020) described a mouse model that reproduces the overexpression of IL15 (600554) in the gut epithelium and lamina propria that is characteristic of active celiac disease (212750), expresses the predisposing HLA-DQ8 molecule, and develops villous atrophy after ingestion of gluten. Overexpression of IL15 in both the epithelium and the lamina propria was required for the development of villous atrophy, which demonstrated the location-dependent central role of IL15 in the pathogenesis of celiac disease. In addition, Abadie et al. (2020) showed that CD4+ T cells and HLA-DQ8 have a crucial role in the licensing of cytotoxic T cells to mediate intestinal epithelial cell lysis. Abadie et al. (2020) also demonstrated a role for the cytokine interferon-gamma (IFNG; 147570) and the enzyme transglutaminase-2 (TGM2; 190196) in tissue destruction. </p>
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</span>
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<div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Accolla et al. (1981); Moriuchi et al. (1985); Nadler et al. (1981);
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Schenning et al. (1984)
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</span>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Abadie, V., Kim, S. M., Lejeune, T., Palanski, B. A., Ernest, J. D., Tastet, O., Voisine, J., Discepolo, V., Marietta, E. V., Hawash, M. B. F., Ciszewski, C., Bouziat, R., and 11 others.
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<strong>IL-15, gluten and HLA-DQ8 drive tissue destruction in coeliac disease.</strong>
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Nature 578: 600-604, 2020.
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[PubMed: 32051586]
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[Full Text: https://doi.org/10.1038/s41586-020-2003-8]
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</p>
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</li>
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<p class="mim-text-font">
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Accolla, R. S., Gross, N., Carrel, S., Corte, G.
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<strong>Distinct forms of both alpha and beta subunits are present in the human Ia molecular pool.</strong>
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Proc. Nat. Acad. Sci. 78: 4549-4551, 1981.
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[PubMed: 6945597]
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[Full Text: https://doi.org/10.1073/pnas.78.7.4549]
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<p class="mim-text-font">
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Auffray, C., Korman, A. J., Roux-Dosseto, M., Bono, R., Strominger, J. L.
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<strong>cDNA clone for the heavy chain of the human B cell alloantigen DC1: strong sequence homology to the HLA-DR heavy chain.</strong>
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Proc. Nat. Acad. Sci. 79: 6337-6341, 1982.
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[PubMed: 6815651]
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[Full Text: https://doi.org/10.1073/pnas.79.20.6337]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Benacerraf, B.
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<strong>Role of MHC gene products in immune response. (Nobel Lecture).</strong>
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Science 212: 1229-1238, 1981.
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[PubMed: 6165083]
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[Full Text: https://doi.org/10.1126/science.6165083]
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</li>
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<li>
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<p class="mim-text-font">
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Bono, M. R., Strominger, J. L.
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<strong>Direct evidence of homology between DC-1 antigen and murine I-A molecules.</strong>
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Nature 299: 836-840, 1982.
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[PubMed: 6752724]
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[Full Text: https://doi.org/10.1038/299836a0]
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</li>
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<li>
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<p class="mim-text-font">
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Bradley, D. S., Nabozny, G. H., Cheng, S., Zhou, P., Griffiths, M. M., Luthra, H. S., David, C. S.
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<strong>HLA-DQB1 polymorphism determines incidence, onset, and severity of collagen-induced arthritis in transgenic mice: implications in human rheumatoid arthritis.</strong>
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J. Clin. Invest. 100: 2227-2234, 1997.
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[PubMed: 9410900]
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[Full Text: https://doi.org/10.1172/JCI119760]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Briata, P., Radka, S. F., Sartoris, S., Lee, J. S.
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<strong>Alternative splicing of HLA-DQB transcripts and secretion of HLA-DQ beta-chain proteins: allelic polymorphism in splicing and polyadenylylation (sic) sites.</strong>
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Proc. Nat. Acad. Sci. 86: 1003-1007, 1989.
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[PubMed: 2464826]
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[Full Text: https://doi.org/10.1073/pnas.86.3.1003]
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<p class="mim-text-font">
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Cohen, D., Cohen, O., Marcadet, A., Massart, C., Lathrop, M., Deschamps, I., Hors, J., Schuller, E., Dausset, J.
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<strong>Class II HLA-DC beta-chain DNA restriction fragments differentiate among HLA-DR2 individuals in insulin-dependent diabetes and multiple sclerosis.</strong>
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Proc. Nat. Acad. Sci. 81: 1774-1778, 1984.
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[PubMed: 6324215]
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[Full Text: https://doi.org/10.1073/pnas.81.6.1774]
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</li>
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<li>
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<p class="mim-text-font">
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Corte, G., Calabi, F., Damiani, G., Bargellesi, A., Tosi, R., Sorrentino, R.
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<strong>Human Ia molecules carrying DC1 determinants differ in both alpha- and beta-subunits from Ia molecules carrying DR determinants.</strong>
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Nature 292: 357-360, 1981.
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[PubMed: 6166865]
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[Full Text: https://doi.org/10.1038/292357a0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Cucca, F., Lampis, R., Congia, M., Angius, E., Nutland, S., Bain, S. C., Barnett, A. H., Todd, J. A.
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<strong>A correlation between the relative predisposition of MHC class II alleles to type 1 diabetes and the structure of their proteins.</strong>
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Hum. Molec. Genet. 10: 2025-2037, 2001.
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[PubMed: 11590120]
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[Full Text: https://doi.org/10.1093/hmg/10.19.2025]
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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