nih-gov/www.ncbi.nlm.nih.gov/omim/610813

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<title>
Entry
- *610813 - HYDIN AXONEMAL CENTRAL PAIR APPARATUS PROTEIN 2; HYDIN2
- OMIM
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<span class="h4">*610813</span>
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<strong>Table of Contents</strong>
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#evolution">Evolution</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#populationGenetics">Population Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.proteinatlas.org/search/HYDIN2" 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="http://biogps.org/#goto=genereport&id=100288805" 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>
<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=HYDIN2" 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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<dd><a href="http://v1.marrvel.org/search/gene/HYDIN2" 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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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=610813[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>
<div><a href="https://www.gwascentral.org/search?q=HYDIN2" 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&nbsp;</a></div>
<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=HYDIN2&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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<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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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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&nbsp;
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Gene description">
<span class="text-danger"><strong>*</strong></span>
610813
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
HYDIN AXONEMAL CENTRAL PAIR APPARATUS PROTEIN 2; HYDIN2
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<div>
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</div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<span class="mim-font">
<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
HYDROCEPHALUS-INDUCING, MOUSE, HOMOLOG OF, 2<br />
HYDIN, MOUSE, HOMOLOG OF, 2<br />
KIAA1864
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<span class="mim-text-font">
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=HYDIN2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">HYDIN2</a></em></strong>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<span class="mim-text-font">
<strong>
<em>
Cytogenetic location: <a href="/geneMap/1/1032?start=-3&limit=10&highlight=1032">1q21.1</a>
&nbsp;
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:146486332-146822034&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'})">1:146,486,332-146,822,034</a> </span>
</em>
</strong>
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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<a id="text" class="mim-anchor"></a>
<h4>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
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</h4>
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<strong>Cloning and Expression</strong>
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<p>By sequencing clones obtained from a size-fractionated fetal brain cDNA library, <a href="#3" class="mim-tip-reference" title="Nagase, T., Nakayama, M., Nakajima, D., Kikuno, R., Ohara, O. &lt;strong&gt;Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.&lt;/strong&gt; DNA Res. 8: 85-95, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11347906/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11347906&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/dnares/8.2.85&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11347906">Nagase et al. (2001)</a> cloned HYDIN2, which they designated KIAA1864. RT-PCR ELISA detected moderate HYDIN2 expression in adult and fetal brain, spinal cord, and all specific brain regions examined. Lower expression was detected in lung, kidney, testis, and ovary, and little to no expression was detected in other tissues examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11347906" 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 genomic sequence analysis, <a href="#2" class="mim-tip-reference" title="Doggett, N. A., Xie, G., Meincke, L. J., Sutherland, R. D., Mundt, M. O., Berbari, N. S., Davy, B. E., Robinson, M. L., Rudd, M. K., Weber, J. L., Stallings, R. L., Han, C. &lt;strong&gt;A 360-kb interchromosomal duplication of the human HYDIN locus.&lt;/strong&gt; Genomics 88: 762-771, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16938426/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16938426&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ygeno.2006.07.012&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16938426">Doggett et al. (2006)</a> identified a duplicated copy of HYDIN (<a href="/entry/610812">610812</a>), HYDIN2, on chromosome 1. Database and sequence analyses revealed HYDIN transcripts that had been isolated from lung, testis, NT2 neuronal precursor cells, and Jurkat leukemic T cells, whereas HYDIN2 transcripts had been isolated from brain and NT2 cells only. Both genes appeared to be expressed as alternatively spliced transcripts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16938426" 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>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="geneStructure" class="mim-anchor"></a>
<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimGeneStructureToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Gene Structure</strong>
</span>
</h4>
</div>
<div id="mimGeneStructureFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#2" class="mim-tip-reference" title="Doggett, N. A., Xie, G., Meincke, L. J., Sutherland, R. D., Mundt, M. O., Berbari, N. S., Davy, B. E., Robinson, M. L., Rudd, M. K., Weber, J. L., Stallings, R. L., Han, C. &lt;strong&gt;A 360-kb interchromosomal duplication of the human HYDIN locus.&lt;/strong&gt; Genomics 88: 762-771, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16938426/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16938426&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ygeno.2006.07.012&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16938426">Doggett et al. (2006)</a> determined that the HYDIN2 gene contains 79 exons and spans approximately 360 kb. It lacks the first 5 exons and last 2 exons of the HYDIN gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16938426" 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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<br />
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<div>
<a id="mapping" class="mim-anchor"></a>
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<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
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<div id="mimMappingFold" class="collapse in mimTextToggleFold">
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<p>Using radiation hybrid analysis, <a href="#3" class="mim-tip-reference" title="Nagase, T., Nakayama, M., Nakajima, D., Kikuno, R., Ohara, O. &lt;strong&gt;Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.&lt;/strong&gt; DNA Res. 8: 85-95, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11347906/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11347906&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/dnares/8.2.85&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11347906">Nagase et al. (2001)</a> mapped the HYDIN2 gene to both chromosome 1 and chromosome 16. By genomic sequence analysis, <a href="#2" class="mim-tip-reference" title="Doggett, N. A., Xie, G., Meincke, L. J., Sutherland, R. D., Mundt, M. O., Berbari, N. S., Davy, B. E., Robinson, M. L., Rudd, M. K., Weber, J. L., Stallings, R. L., Han, C. &lt;strong&gt;A 360-kb interchromosomal duplication of the human HYDIN locus.&lt;/strong&gt; Genomics 88: 762-771, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16938426/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16938426&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ygeno.2006.07.012&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16938426">Doggett et al. (2006)</a> determined that the HYDIN2 gene maps to chromosome 1q21.1 and is a duplicated copy of the HYDIN gene on chromosome 16q22.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11347906+16938426" 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>
</span>
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<br />
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</div>
<div>
<a id="evolution" class="mim-anchor"></a>
<h4 href="#mimEvolutionFold" id="mimEvolutionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimEvolutionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Evolution</strong>
</span>
</h4>
</div>
<div id="mimEvolutionFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>Using PCR and FISH, <a href="#2" class="mim-tip-reference" title="Doggett, N. A., Xie, G., Meincke, L. J., Sutherland, R. D., Mundt, M. O., Berbari, N. S., Davy, B. E., Robinson, M. L., Rudd, M. K., Weber, J. L., Stallings, R. L., Han, C. &lt;strong&gt;A 360-kb interchromosomal duplication of the human HYDIN locus.&lt;/strong&gt; Genomics 88: 762-771, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16938426/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16938426&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ygeno.2006.07.012&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16938426">Doggett et al. (2006)</a> confirmed that duplication of the HYDIN gene is specific to humans. A large and diverse sample of humans contained both HYDIN and HYDIN2, and there was no evidence for polymorphic presence of HYDIN2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16938426" 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="Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., Shen, J., Kang, S.-H. L., and 28 others. &lt;strong&gt;Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.&lt;/strong&gt; Nature Genet. 40: 1466-1471, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19029900/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19029900&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19029900[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.279&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19029900">Brunetti-Pierri et al. (2008)</a> found that patients with 1q21 deletion phenotype (<a href="/entry/612474">612474</a>) had microcephaly, whereas patients with microduplication of this region (<a href="/entry/612475">612475</a>) had macrocephaly. They postulated that dosage sensitivity of the HYDIN2 gene was responsible for the variation in head circumference. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19029900" 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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<div>
<a id="populationGenetics" class="mim-anchor"></a>
<h4 href="#mimPopulationGeneticsFold" id="mimPopulationGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimPopulationGeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
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<span class="mim-text-font">
<p>By analyzing short-read mapping depth for 159 human genomes, <a href="#4" class="mim-tip-reference" title="Sudmant, P. H., Kitzman, J. O., Antonacci, F., Alkan, C., Malig, M., Tsalenko, A., Sampas, N., Bruhn, L., Shendure, J., 1000 Genomes Project, Eichler, E. E. &lt;strong&gt;Diversity of human copy number variation and multicopy genes.&lt;/strong&gt; Science 330: 641-646, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21030649/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21030649&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21030649[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1197005&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21030649">Sudmant et al. (2010)</a> demonstrated accurate estimation of absolute copy number for duplications as small as 1.9 kb pairs, ranging from 0 to 48 copies. <a href="#4" class="mim-tip-reference" title="Sudmant, P. H., Kitzman, J. O., Antonacci, F., Alkan, C., Malig, M., Tsalenko, A., Sampas, N., Bruhn, L., Shendure, J., 1000 Genomes Project, Eichler, E. E. &lt;strong&gt;Diversity of human copy number variation and multicopy genes.&lt;/strong&gt; Science 330: 641-646, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21030649/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21030649&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21030649[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1197005&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21030649">Sudmant et al. (2010)</a> identified 4.1 million 'singly unique nucleotide' positions informative in distinguishing specific copies and used them to genotype the copy and content of specific paralogs within highly duplicated gene families. These data identified human-specific expansions in genes associated with brain development, such as GPRIN2 (<a href="/entry/611240">611240</a>) and SRGAP2 (<a href="/entry/606524">606524</a>), which have been implicated in neurite outgrowth and branching. Also included were the brain-specific HYDIN2 gene, associated with micro- and macrocephaly; DRD5 (<a href="/entry/126453">126453</a>), a dopamine D5 receptor; and the GTF2I (<a href="/entry/601679">601679</a>) transcription factors, whose deletion has been associated with visual-spatial and sociability deficits among Williams-Beuren syndrome (<a href="/entry/194050">194050</a>) patients, among others. The data of <a href="#4" class="mim-tip-reference" title="Sudmant, P. H., Kitzman, J. O., Antonacci, F., Alkan, C., Malig, M., Tsalenko, A., Sampas, N., Bruhn, L., Shendure, J., 1000 Genomes Project, Eichler, E. E. &lt;strong&gt;Diversity of human copy number variation and multicopy genes.&lt;/strong&gt; Science 330: 641-646, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21030649/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21030649&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21030649[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1197005&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21030649">Sudmant et al. (2010)</a> also revealed extensive population genetic diversity, especially among the genes NPEPPS (<a href="/entry/606793">606793</a>), UGT2B17 (<a href="/entry/601903">601903</a>), and NBPF1 (<a href="/entry/610501">610501</a>), as well as LILRA3 (<a href="/entry/604818">604818</a>), which is the most highly stratified gene by copy number in the human genome. In addition, <a href="#4" class="mim-tip-reference" title="Sudmant, P. H., Kitzman, J. O., Antonacci, F., Alkan, C., Malig, M., Tsalenko, A., Sampas, N., Bruhn, L., Shendure, J., 1000 Genomes Project, Eichler, E. E. &lt;strong&gt;Diversity of human copy number variation and multicopy genes.&lt;/strong&gt; Science 330: 641-646, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21030649/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21030649&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21030649[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1197005&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21030649">Sudmant et al. (2010)</a> detected signatures consistent with gene conversion in the human species. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21030649" 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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<div>
<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Brunetti-Pierri2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., Shen, J., Kang, S.-H. L., and 28 others.
<strong>Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.</strong>
Nature Genet. 40: 1466-1471, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19029900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19029900</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19029900[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=19029900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng.279" target="_blank">Full Text</a>]
</p>
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</li>
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<a id="2" class="mim-anchor"></a>
<a id="Doggett2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Doggett, N. A., Xie, G., Meincke, L. J., Sutherland, R. D., Mundt, M. O., Berbari, N. S., Davy, B. E., Robinson, M. L., Rudd, M. K., Weber, J. L., Stallings, R. L., Han, C.
<strong>A 360-kb interchromosomal duplication of the human HYDIN locus.</strong>
Genomics 88: 762-771, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16938426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16938426</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16938426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ygeno.2006.07.012" target="_blank">Full Text</a>]
</p>
</div>
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<a id="3" class="mim-anchor"></a>
<a id="Nagase2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Nagase, T., Nakayama, M., Nakajima, D., Kikuno, R., Ohara, O.
<strong>Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
DNA Res. 8: 85-95, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11347906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11347906</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11347906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/dnares/8.2.85" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="4" class="mim-anchor"></a>
<a id="Sudmant2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sudmant, P. H., Kitzman, J. O., Antonacci, F., Alkan, C., Malig, M., Tsalenko, A., Sampas, N., Bruhn, L., Shendure, J., 1000 Genomes Project, Eichler, E. E.
<strong>Diversity of human copy number variation and multicopy genes.</strong>
Science 330: 641-646, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21030649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21030649</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21030649[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=21030649" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1126/science.1197005" target="_blank">Full Text</a>]
</p>
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Ada Hamosh - updated : 11/23/2010
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<span class="mim-text-font">
Ada Hamosh - updated : 2/23/2009<br>Patricia A. Hartz - updated : 2/27/2007
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Creation Date:
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Matthew B. Gross : 2/27/2007
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carol : 09/10/2019
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alopez : 11/24/2010<br>terry : 11/23/2010<br>alopez : 2/25/2009<br>terry : 2/23/2009<br>mgross : 2/27/2007
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<strong>*</strong> 610813
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HYDIN AXONEMAL CENTRAL PAIR APPARATUS PROTEIN 2; HYDIN2
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<em>Alternative titles; symbols</em>
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HYDROCEPHALUS-INDUCING, MOUSE, HOMOLOG OF, 2<br />
HYDIN, MOUSE, HOMOLOG OF, 2<br />
KIAA1864
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<strong><em>HGNC Approved Gene Symbol: HYDIN2</em></strong>
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Cytogenetic location: 1q21.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:146,486,332-146,822,034 </span>
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<span class="small">(from NCBI)</span>
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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<p>By sequencing clones obtained from a size-fractionated fetal brain cDNA library, Nagase et al. (2001) cloned HYDIN2, which they designated KIAA1864. RT-PCR ELISA detected moderate HYDIN2 expression in adult and fetal brain, spinal cord, and all specific brain regions examined. Lower expression was detected in lung, kidney, testis, and ovary, and little to no expression was detected in other tissues examined. </p><p>By genomic sequence analysis, Doggett et al. (2006) identified a duplicated copy of HYDIN (610812), HYDIN2, on chromosome 1. Database and sequence analyses revealed HYDIN transcripts that had been isolated from lung, testis, NT2 neuronal precursor cells, and Jurkat leukemic T cells, whereas HYDIN2 transcripts had been isolated from brain and NT2 cells only. Both genes appeared to be expressed as alternatively spliced transcripts. </p>
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<strong>Gene Structure</strong>
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<p>Doggett et al. (2006) determined that the HYDIN2 gene contains 79 exons and spans approximately 360 kb. It lacks the first 5 exons and last 2 exons of the HYDIN gene. </p>
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<strong>Mapping</strong>
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<p>Using radiation hybrid analysis, Nagase et al. (2001) mapped the HYDIN2 gene to both chromosome 1 and chromosome 16. By genomic sequence analysis, Doggett et al. (2006) determined that the HYDIN2 gene maps to chromosome 1q21.1 and is a duplicated copy of the HYDIN gene on chromosome 16q22.2. </p>
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<strong>Evolution</strong>
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<p>Using PCR and FISH, Doggett et al. (2006) confirmed that duplication of the HYDIN gene is specific to humans. A large and diverse sample of humans contained both HYDIN and HYDIN2, and there was no evidence for polymorphic presence of HYDIN2. </p><p>Brunetti-Pierri et al. (2008) found that patients with 1q21 deletion phenotype (612474) had microcephaly, whereas patients with microduplication of this region (612475) had macrocephaly. They postulated that dosage sensitivity of the HYDIN2 gene was responsible for the variation in head circumference. </p>
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<strong>Population Genetics</strong>
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<p>By analyzing short-read mapping depth for 159 human genomes, Sudmant et al. (2010) demonstrated accurate estimation of absolute copy number for duplications as small as 1.9 kb pairs, ranging from 0 to 48 copies. Sudmant et al. (2010) identified 4.1 million 'singly unique nucleotide' positions informative in distinguishing specific copies and used them to genotype the copy and content of specific paralogs within highly duplicated gene families. These data identified human-specific expansions in genes associated with brain development, such as GPRIN2 (611240) and SRGAP2 (606524), which have been implicated in neurite outgrowth and branching. Also included were the brain-specific HYDIN2 gene, associated with micro- and macrocephaly; DRD5 (126453), a dopamine D5 receptor; and the GTF2I (601679) transcription factors, whose deletion has been associated with visual-spatial and sociability deficits among Williams-Beuren syndrome (194050) patients, among others. The data of Sudmant et al. (2010) also revealed extensive population genetic diversity, especially among the genes NPEPPS (606793), UGT2B17 (601903), and NBPF1 (610501), as well as LILRA3 (604818), which is the most highly stratified gene by copy number in the human genome. In addition, Sudmant et al. (2010) detected signatures consistent with gene conversion in the human species. </p>
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<strong>REFERENCES</strong>
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Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., Shen, J., Kang, S.-H. L., and 28 others.
<strong>Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.</strong>
Nature Genet. 40: 1466-1471, 2008.
[PubMed: 19029900]
[Full Text: https://doi.org/10.1038/ng.279]
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Doggett, N. A., Xie, G., Meincke, L. J., Sutherland, R. D., Mundt, M. O., Berbari, N. S., Davy, B. E., Robinson, M. L., Rudd, M. K., Weber, J. L., Stallings, R. L., Han, C.
<strong>A 360-kb interchromosomal duplication of the human HYDIN locus.</strong>
Genomics 88: 762-771, 2006.
[PubMed: 16938426]
[Full Text: https://doi.org/10.1016/j.ygeno.2006.07.012]
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Nagase, T., Nakayama, M., Nakajima, D., Kikuno, R., Ohara, O.
<strong>Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
DNA Res. 8: 85-95, 2001.
[PubMed: 11347906]
[Full Text: https://doi.org/10.1093/dnares/8.2.85]
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Sudmant, P. H., Kitzman, J. O., Antonacci, F., Alkan, C., Malig, M., Tsalenko, A., Sampas, N., Bruhn, L., Shendure, J., 1000 Genomes Project, Eichler, E. E.
<strong>Diversity of human copy number variation and multicopy genes.</strong>
Science 330: 641-646, 2010.
[PubMed: 21030649]
[Full Text: https://doi.org/10.1126/science.1197005]
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Contributors:
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Ada Hamosh - updated : 11/23/2010<br>Ada Hamosh - updated : 2/23/2009<br>Patricia A. Hartz - updated : 2/27/2007
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Creation Date:
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Matthew B. Gross : 2/27/2007
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carol : 09/10/2019<br>alopez : 11/24/2010<br>terry : 11/23/2010<br>alopez : 2/25/2009<br>terry : 2/23/2009<br>mgross : 2/27/2007
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