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<title>
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Entry
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- *607110 - APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3B; APOBEC3B
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- OMIM
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<a href="#" id="mimShowTips" class="mim-tip-hint" title="Click to reveal all tips on the page. You can also hover over individual elements to reveal the tip."><span class="mim-navbar-menu-font"><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span></a>
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</ul>
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</nav>
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</div>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
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<div class="form-group">
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<li role="separator" class="divider"></li>
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<a href="/history"> Search History </a>
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</ul>
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<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
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</form>
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<div class="row">
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<p />
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*607110</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 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="#geneFunction">Gene Function</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#evolution">Evolution</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 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=ENSG00000179750;t=ENST00000333467" 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=9582" 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=607110" 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=ENSG00000179750;t=ENST00000333467" 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_001270411,NM_004900" 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_004900" 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=607110" 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=06169&isoform_id=06169_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/APOBEC3B" 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/4097431,4097433,12643884,31753108,56900900,90403028,119580683,119580684,119580685,119580686,573016663,750281181,1519312407,1676317112" 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/Q9UH17" 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=9582" 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=ENSG00000179750;t=ENST00000333467" 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=APOBEC3B" 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=APOBEC3B" 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+9582" 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/APOBEC3B" 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/gene/9582" 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=chr22&hgg_gene=ENST00000333467.4&hgg_start=38982347&hgg_end=38992779&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 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="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 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607110[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 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=607110[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/ENSG00000179750" 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.gwascentral.org/search?q=APOBEC3B" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=APOBEC3B&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/PA24892" 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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<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="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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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-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</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="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:17352" 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:1933111" 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/APOBEC3B#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:1933111" 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/9582/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=9582" 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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</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:9582" 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=APOBEC3B&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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</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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<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>
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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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607110
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</span>
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</span>
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</div>
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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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APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3B; APOBEC3B
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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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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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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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<div>
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<h4>
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<span class="mim-font">
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PHORBOLIN 1-RELATED PROTEIN
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</span>
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</h4>
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</div>
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</div>
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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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<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=APOBEC3B" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">APOBEC3B</a></em></strong>
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</span>
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</p>
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</div>
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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/22/284?start=-3&limit=10&highlight=284">22q13.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr22:38982347-38992779&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'})">22:38,982,347-38,992,779</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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</div>
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<div>
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</div>
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<div>
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<br />
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</div>
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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>
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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>Phorbolins-1 and -2 are highly expressed in psoriatic lesions. Treatment of normal keratinocytes with protein kinase C (PRKC; see <a href="/entry/176960">176960</a>)-activating phorbol ester leads to the overexpression of both proteins. By comparing the sequence of phorbolin-1 (APOBEC3A; <a href="/entry/607109">607109</a>) with other cDNAs isolated from a psoriatic epidermis cDNA expression library, <a href="#6" class="mim-tip-reference" title="Madsen, P., Anant, S., Rasmussen, H. H., Gromov, P., Vorum, H., Dumanski, J. P., Tommerup, N., Collins, J. E., Wright, C. L., Dunham, I., MacGinnitie, A. J., Davidson, N. O., Celis, J. E. <strong>Psoriasis upregulated phorbolin-1 shares structural but not functional similarity to the mRNA-editing protein apobec-1.</strong> J. Invest. Derm. 113: 162-169, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10469298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10469298</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1999.00682.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10469298">Madsen et al. (1999)</a> obtained a cDNA encoding phorbolin-1-related protein and at least 1 variant that uses an alternative AUG. The deduced 235-amino acid, 28-kD protein is 89% identical to phorbolin-1, with most differences at the N terminus. Like phorbolin-1, phorbolin-1-related protein contains an RNA-editing region but fails to bind apolipoprotein B (APOB; <a href="/entry/107730">107730</a>) mRNA. <a href="#6" class="mim-tip-reference" title="Madsen, P., Anant, S., Rasmussen, H. H., Gromov, P., Vorum, H., Dumanski, J. P., Tommerup, N., Collins, J. E., Wright, C. L., Dunham, I., MacGinnitie, A. J., Davidson, N. O., Celis, J. E. <strong>Psoriasis upregulated phorbolin-1 shares structural but not functional similarity to the mRNA-editing protein apobec-1.</strong> J. Invest. Derm. 113: 162-169, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10469298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10469298</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1999.00682.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10469298">Madsen et al. (1999)</a> concluded that the phorbolin proteins do not manifest any of the functional properties ascribed to APOBEC1 (<a href="/entry/600130">600130</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10469298" 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 Northern blot analysis, <a href="#4" class="mim-tip-reference" title="Jarmuz, A., Chester, A., Bayliss, J., Gisbourne, J., Dunham, I., Scott, J., Navaratnam, N. <strong>An anthropoid-specific locus of orphan C to U RNA-editing enzymes on chromosome 22.</strong> Genomics 79: 285-296, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11863358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11863358</a>] [<a href="https://doi.org/10.1006/geno.2002.6718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11863358">Jarmuz et al. (2002)</a> determined that APOBEC3B is expressed primarily in peripheral blood leukocytes, and it was detected in most tumor cell lines examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11863358" 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 RT-PCR, <a href="#1" class="mim-tip-reference" title="Bogerd, H. P., Wiegand, H. L., Hulme, A. E., Garcia-Perez, J. L., O'Shea, K. S., Moran, J. V., Cullen, B. R. <strong>Cellular inhibitors of long interspersed element 1 and Alu retrotransposition.</strong> Proc. Nat. Acad. Sci. 103: 8780-8785, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16728505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16728505</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16728505[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.0603313103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16728505">Bogerd et al. (2006)</a> found that APOBEC3A was expressed only in peripheral blood leukocytes and spleen, whereas APOBEC3B was expressed at low levels in a wide range of somatic tissues and in undifferentiated human embryonic stem cell lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16728505" 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="#4" class="mim-tip-reference" title="Jarmuz, A., Chester, A., Bayliss, J., Gisbourne, J., Dunham, I., Scott, J., Navaratnam, N. <strong>An anthropoid-specific locus of orphan C to U RNA-editing enzymes on chromosome 22.</strong> Genomics 79: 285-296, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11863358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11863358</a>] [<a href="https://doi.org/10.1006/geno.2002.6718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11863358">Jarmuz et al. (2002)</a> determined that recombinant APOBEC3B expressed in insect cells bound zinc and dimerized with APOBEC3G (<a href="/entry/607113">607113</a>), but not with APOBEC1. APOBEC3B did not edit APOB, NF1 (<a href="/entry/613113">613113</a>), or NAT1 (<a href="/entry/108345">108345</a>) mRNAs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11863358" 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="Bogerd, H. P., Wiegand, H. L., Hulme, A. E., Garcia-Perez, J. L., O'Shea, K. S., Moran, J. V., Cullen, B. R. <strong>Cellular inhibitors of long interspersed element 1 and Alu retrotransposition.</strong> Proc. Nat. Acad. Sci. 103: 8780-8785, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16728505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16728505</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16728505[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.0603313103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16728505">Bogerd et al. (2006)</a> found that APOBEC3A and APOBEC3B inhibited LINE-1 retrotransposition in HeLa cells. APOBEC3A and APOBEC3B also inhibited Alu mobility, which is mediated by the LINE-1 ORF2 protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16728505" 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="#2" class="mim-tip-reference" title="Burns, M. B., Lackey, L., Carpenter, M. A., Rathore, A., Land, A. M., Leonard, B., Refsland, E. W., Kotandeniya, D., Tretyakova, N., Nikas, J. B., Yee, D., Temiz, N. A., Donohue, D. E., McDougle, R. M., Brown, W. L., Law, E. K., Harris, R. S. <strong>APOBEC3B is an enzymatic source of mutation in breast cancer.</strong> Nature 494: 366-370, 2013. Note: Erratum: Nature 502: 580 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23389445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23389445</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23389445[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/nature11881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23389445">Burns et al. (2013)</a> showed that the DNA cytosine deaminase APOBEC3B is a probable source of somatic C-to-T mutations in breast cancer (<a href="/entry/114480">114480</a>). APOBEC3B mRNA is upregulated in most primary breast tumors and breast cancer cell lines. Tumors that express high levels of APOBEC3B have twice as many mutations as those that express low levels and are more likely to have mutations in TP53 (<a href="/entry/191170">191170</a>). Endogenous APOBEC3B protein is predominantly nuclear and the only detectable source of DNA C-to-U editing activity in breast cancer cell line extracts. Knockdown experiments showed that endogenous APOBEC3B correlates with increased levels of genomic uracil, increased mutation frequencies, and C-to-T transitions. Furthermore, induced APOBEC3B overexpression caused cell cycle deviations, cell death, DNA fragmentation, gamma-H2AX (<a href="/entry/601772">601772</a>) accumulation, and C-to-T mutations. <a href="#2" class="mim-tip-reference" title="Burns, M. B., Lackey, L., Carpenter, M. A., Rathore, A., Land, A. M., Leonard, B., Refsland, E. W., Kotandeniya, D., Tretyakova, N., Nikas, J. B., Yee, D., Temiz, N. A., Donohue, D. E., McDougle, R. M., Brown, W. L., Law, E. K., Harris, R. S. <strong>APOBEC3B is an enzymatic source of mutation in breast cancer.</strong> Nature 494: 366-370, 2013. Note: Erratum: Nature 502: 580 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23389445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23389445</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23389445[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/nature11881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23389445">Burns et al. (2013)</a> concluded that their data suggested a model in which APOBEC3B-catalyzed deamination provides a chronic source of DNA damage in breast cancers that could select TP53 inactivation and explained how some tumors evolve rapidly and manifest heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23389445" 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>Following up on the report of <a href="#2" class="mim-tip-reference" title="Burns, M. B., Lackey, L., Carpenter, M. A., Rathore, A., Land, A. M., Leonard, B., Refsland, E. W., Kotandeniya, D., Tretyakova, N., Nikas, J. B., Yee, D., Temiz, N. A., Donohue, D. E., McDougle, R. M., Brown, W. L., Law, E. K., Harris, R. S. <strong>APOBEC3B is an enzymatic source of mutation in breast cancer.</strong> Nature 494: 366-370, 2013. Note: Erratum: Nature 502: 580 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23389445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23389445</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23389445[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/nature11881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23389445">Burns et al. (2013)</a>, which found that APOBEC3B accounts for up to half of the mutational load in breast carcinomas expressing this enzyme, <a href="#3" class="mim-tip-reference" title="Burns, M. B., Temiz, N. A., Harris, R. S. <strong>Evidence for APOBEC3B mutagenesis in multiple human cancers.</strong> Nature Genet. 45: 977-983, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23852168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23852168</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23852168[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/ng.2701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23852168">Burns et al. (2013)</a> addressed whether APOBEC3B is broadly responsible for mutagenesis in multiple tumor types. They analyzed gene expression data and mutation patterns, distributions, and loads for 19 different cancer types, with over 4,800 exomes and 1,000,000 somatic mutations. In at least 6 distinct cancers (bladder, cervix, lung adenocarcinoma, lung squamous cell carcinoma, head and neck, and breast), APOBEC3B is upregulated, its preferred target sequence is frequently mutated, and these mutations are clustered (kataegis). Interpreting these findings in the light of previous genetic, cellular, and biochemical studies, <a href="#3" class="mim-tip-reference" title="Burns, M. B., Temiz, N. A., Harris, R. S. <strong>Evidence for APOBEC3B mutagenesis in multiple human cancers.</strong> Nature Genet. 45: 977-983, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23852168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23852168</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23852168[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/ng.2701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23852168">Burns et al. (2013)</a> suggested that the most parsimonious conclusion from these global analyses is that APOBEC3B-catalyzed genomic uracil lesions are responsible for a large proportion of both dispersed and clustered mutations in multiple distinct cancers. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23852168+23389445" 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="#5" class="mim-tip-reference" title="Maciejowski, J., Chatzipli, A., Dananberg, A., Chu, K., Toufektchan, E., Klimczak, L. J., Gordenin, D. A., Campbell, P. J., de Lange, T. <strong>APOBEC3-dependent kataegis and TREX1-driven chromothripsis during telomere crisis.</strong> Nature Genet. 52: 884-890, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32719516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32719516</a>] [<a href="https://doi.org/10.1038/s41588-020-0667-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32719516">Maciejowski et al. (2020)</a> examined the mechanism underlying chromothripsis and kataegis using an in vitro telomere crisis model in human cells and showed that the cytoplasmic exonuclease TREX1 (<a href="/entry/606609">606609</a>), which promotes resolution of dicentric chromosomes, played a prominent role in chromothriptic fragmentation. In the absence of TREX1, genome alterations induced by telomere crisis primarily involved breakage-fusion-bridge cycles and simple genome rearrangements rather than chromothripsis. Kataegis observed at chromothriptic breakpoints was due to cytosine deamination by APOBEC3B. <a href="#5" class="mim-tip-reference" title="Maciejowski, J., Chatzipli, A., Dananberg, A., Chu, K., Toufektchan, E., Klimczak, L. J., Gordenin, D. A., Campbell, P. J., de Lange, T. <strong>APOBEC3-dependent kataegis and TREX1-driven chromothripsis during telomere crisis.</strong> Nature Genet. 52: 884-890, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32719516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32719516</a>] [<a href="https://doi.org/10.1038/s41588-020-0667-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32719516">Maciejowski et al. (2020)</a> concluded that chromothripsis and kataegis arise from a combination of nucleolytic processing by TREX1 and cytosine editing by APOBEC3B. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32719516" 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 classifying diverse patterns of clustered mutagenesis in human tumor genomes, <a href="#8" class="mim-tip-reference" title="Mas-Ponte, D., Supek, F. <strong>DNA mismatch repair promotes APOBEC3-mediated diffuse hypermutation in human cancers.</strong> Nature Genet. 52: 958-968, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32747826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32747826</a>] [<a href="https://doi.org/10.1038/s41588-020-0674-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32747826">Mas-Ponte and Supek (2020)</a> identified a novel APOBEC3 pattern of nonrecurrent, diffuse hypermutation that they called omikli, after the Greek word meaning 'fog.' This mechanism occurred independently of focal hypermutation, or kataegis (Greek for 'thunderstorm'), and was associated with activity of the DNA mismatch-repair (MMR) pathway. DNA MMR activity provided the single-stranded DNA substrates needed by APOBEC3 and contributed to a substantial proportion of APOBEC3 mutations genomewide. Because MMR was directed toward early-replicating, gene-rich chromosomal domains, APOBEC3 mutagenesis had a high propensity to generate impactful mutations, exceeding that of other common carcinogens, such as tobacco smoke and ultraviolet exposure. The authors concluded that cells direct their DNA repair capacity toward more important genomic regions, making carcinogens that subvert DNA repair highly potent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32747826" 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="#4" class="mim-tip-reference" title="Jarmuz, A., Chester, A., Bayliss, J., Gisbourne, J., Dunham, I., Scott, J., Navaratnam, N. <strong>An anthropoid-specific locus of orphan C to U RNA-editing enzymes on chromosome 22.</strong> Genomics 79: 285-296, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11863358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11863358</a>] [<a href="https://doi.org/10.1006/geno.2002.6718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11863358">Jarmuz et al. (2002)</a> determined that the APOBEC3B gene contains 8 exons. The 5-prime untranslated region and the 5-prime flanking region contain repeated sequences. No TATA or CATT box was identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11863358" 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>Using FISH and cosmid analyses, <a href="#6" class="mim-tip-reference" title="Madsen, P., Anant, S., Rasmussen, H. H., Gromov, P., Vorum, H., Dumanski, J. P., Tommerup, N., Collins, J. E., Wright, C. L., Dunham, I., MacGinnitie, A. J., Davidson, N. O., Celis, J. E. <strong>Psoriasis upregulated phorbolin-1 shares structural but not functional similarity to the mRNA-editing protein apobec-1.</strong> J. Invest. Derm. 113: 162-169, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10469298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10469298</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1999.00682.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10469298">Madsen et al. (1999)</a> mapped the phorbolin-1-related gene to chromosome 22q13, close to the phorbolin-1 gene and centromeric to the PDGFB gene (<a href="/entry/190040">190040</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10469298" 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 FISH and genomic sequence analysis, <a href="#4" class="mim-tip-reference" title="Jarmuz, A., Chester, A., Bayliss, J., Gisbourne, J., Dunham, I., Scott, J., Navaratnam, N. <strong>An anthropoid-specific locus of orphan C to U RNA-editing enzymes on chromosome 22.</strong> Genomics 79: 285-296, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11863358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11863358</a>] [<a href="https://doi.org/10.1006/geno.2002.6718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11863358">Jarmuz et al. (2002)</a> mapped the APOBEC3B gene within a tandem array of 7 APOBEC genes or pseudogenes on chromosome 22q12-q13.2. All are oriented with a centromeric 5-prime end. The authors noted that a similar expansion of the APOBEC family is not present in rodents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11863358" 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="#7" class="mim-tip-reference" title="Marchetto, M. C. N., Narvaiza, I., Denli, A. M., Benner, C., Lazzarini, T. A., Nathanson, J. L., Paquola, A. C. M., Desai, K. N., Herai, R. H., Weitzman, M. D., Yeo, G. W., Muotri, A. R., Gage, F. H. <strong>Differential L1 regulation in pluripotent stem cells of humans and apes.</strong> Nature 503: 525-529, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24153179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24153179</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24153179[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/nature12686" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24153179">Marchetto et al. (2013)</a> described the generation and initial characterization of induced pluripotent stem (iPS) cells from chimpanzees and bonobos as tools to explore factors that may have contributed to great ape evolution. Comparative gene expression analysis of human and nonhuman primate iPS cells revealed differences in the regulation of long interspersed element-1 (L1) transposons. A force of change in mammalian evolution, L1 elements are retrotransposons that have remained active during primate evolution. Decreased levels of L1-restricting factors APOBEC3B and PIWIL2 (<a href="/entry/610312">610312</a>) in nonhuman primate iPS cells correlated with increased L1 mobility and endogenous L1 mRNA levels. Moreover, results from the manipulation of APOBEC3B and PIWIL2 levels in iPS cells supported a causal inverse relationship between levels of these proteins and L1 retrotransposition. Finally, <a href="#7" class="mim-tip-reference" title="Marchetto, M. C. N., Narvaiza, I., Denli, A. M., Benner, C., Lazzarini, T. A., Nathanson, J. L., Paquola, A. C. M., Desai, K. N., Herai, R. H., Weitzman, M. D., Yeo, G. W., Muotri, A. R., Gage, F. H. <strong>Differential L1 regulation in pluripotent stem cells of humans and apes.</strong> Nature 503: 525-529, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24153179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24153179</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24153179[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/nature12686" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24153179">Marchetto et al. (2013)</a> found increased copy numbers of species-specific L1 elements in the genome of chimpanzees compared to humans, supporting the idea that increased L1 mobility in nonhuman primates is not limited to iPS cells in culture and may have also occurred in the germline or embryonic cells developmentally upstream to germline specification during primate evolution. <a href="#7" class="mim-tip-reference" title="Marchetto, M. C. N., Narvaiza, I., Denli, A. M., Benner, C., Lazzarini, T. A., Nathanson, J. L., Paquola, A. C. M., Desai, K. N., Herai, R. H., Weitzman, M. D., Yeo, G. W., Muotri, A. R., Gage, F. H. <strong>Differential L1 regulation in pluripotent stem cells of humans and apes.</strong> Nature 503: 525-529, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24153179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24153179</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24153179[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/nature12686" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24153179">Marchetto et al. (2013)</a> proposed that differences in L1 mobility may have differentially shaped the genomes of humans and nonhuman primates and could have continuing adaptive significance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24153179" 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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Bogerd, H. P., Wiegand, H. L., Hulme, A. E., Garcia-Perez, J. L., O'Shea, K. S., Moran, J. V., Cullen, B. R.
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<strong>Cellular inhibitors of long interspersed element 1 and Alu retrotransposition.</strong>
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Proc. Nat. Acad. Sci. 103: 8780-8785, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16728505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16728505</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16728505[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=16728505" 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.0603313103" target="_blank">Full Text</a>]
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Burns, M. B., Lackey, L., Carpenter, M. A., Rathore, A., Land, A. M., Leonard, B., Refsland, E. W., Kotandeniya, D., Tretyakova, N., Nikas, J. B., Yee, D., Temiz, N. A., Donohue, D. E., McDougle, R. M., Brown, W. L., Law, E. K., Harris, R. S.
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<strong>APOBEC3B is an enzymatic source of mutation in breast cancer.</strong>
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Nature 494: 366-370, 2013. Note: Erratum: Nature 502: 580 only, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23389445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23389445</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23389445[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=23389445" 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/nature11881" target="_blank">Full Text</a>]
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Burns, M. B., Temiz, N. A., Harris, R. S.
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<strong>Evidence for APOBEC3B mutagenesis in multiple human cancers.</strong>
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Nature Genet. 45: 977-983, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23852168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23852168</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23852168[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=23852168" 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/ng.2701" target="_blank">Full Text</a>]
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Jarmuz, A., Chester, A., Bayliss, J., Gisbourne, J., Dunham, I., Scott, J., Navaratnam, N.
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<strong>An anthropoid-specific locus of orphan C to U RNA-editing enzymes on chromosome 22.</strong>
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Genomics 79: 285-296, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11863358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11863358</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11863358" 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/10.1006/geno.2002.6718" target="_blank">Full Text</a>]
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Maciejowski, J., Chatzipli, A., Dananberg, A., Chu, K., Toufektchan, E., Klimczak, L. J., Gordenin, D. A., Campbell, P. J., de Lange, T.
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<strong>APOBEC3-dependent kataegis and TREX1-driven chromothripsis during telomere crisis.</strong>
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Nature Genet. 52: 884-890, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32719516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32719516</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32719516" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Madsen, P., Anant, S., Rasmussen, H. H., Gromov, P., Vorum, H., Dumanski, J. P., Tommerup, N., Collins, J. E., Wright, C. L., Dunham, I., MacGinnitie, A. J., Davidson, N. O., Celis, J. E.
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<strong>Psoriasis upregulated phorbolin-1 shares structural but not functional similarity to the mRNA-editing protein apobec-1.</strong>
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J. Invest. Derm. 113: 162-169, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10469298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10469298</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10469298" 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/10.1046/j.1523-1747.1999.00682.x" target="_blank">Full Text</a>]
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Marchetto, M. C. N., Narvaiza, I., Denli, A. M., Benner, C., Lazzarini, T. A., Nathanson, J. L., Paquola, A. C. M., Desai, K. N., Herai, R. H., Weitzman, M. D., Yeo, G. W., Muotri, A. R., Gage, F. H.
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<strong>Differential L1 regulation in pluripotent stem cells of humans and apes.</strong>
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Nature 503: 525-529, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24153179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24153179</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24153179[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=24153179" 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/nature12686" target="_blank">Full Text</a>]
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Mas-Ponte, D., Supek, F.
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<strong>DNA mismatch repair promotes APOBEC3-mediated diffuse hypermutation in human cancers.</strong>
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Nature Genet. 52: 958-968, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32747826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32747826</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32747826" 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/s41588-020-0674-6" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 01/25/2021
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Ada Hamosh - updated : 01/21/2021<br>Ada Hamosh - updated : 11/12/2014<br>Ada Hamosh - updated : 1/9/2014<br>Ada Hamosh - updated : 3/21/2013<br>Patricia A. Hartz - updated : 7/12/2006<br>Patricia A. Hartz - updated : 5/19/2003
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Paul J. Converse : 7/23/2002
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mgross : 01/25/2021
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mgross : 01/21/2021<br>alopez : 11/12/2014<br>alopez : 1/9/2014<br>alopez : 12/4/2013<br>alopez : 4/2/2013<br>terry : 3/21/2013<br>joanna : 11/23/2009<br>mgross : 7/12/2006<br>mgross : 5/19/2003<br>mgross : 5/5/2003<br>mgross : 8/23/2002<br>mgross : 7/23/2002
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<strong>*</strong> 607110
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APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3B; APOBEC3B
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PHORBOLIN 1-RELATED PROTEIN
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<strong><em>HGNC Approved Gene Symbol: APOBEC3B</em></strong>
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Cytogenetic location: 22q13.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 22:38,982,347-38,992,779 </span>
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<span class="small">(from NCBI)</span>
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<strong>Cloning and Expression</strong>
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<p>Phorbolins-1 and -2 are highly expressed in psoriatic lesions. Treatment of normal keratinocytes with protein kinase C (PRKC; see 176960)-activating phorbol ester leads to the overexpression of both proteins. By comparing the sequence of phorbolin-1 (APOBEC3A; 607109) with other cDNAs isolated from a psoriatic epidermis cDNA expression library, Madsen et al. (1999) obtained a cDNA encoding phorbolin-1-related protein and at least 1 variant that uses an alternative AUG. The deduced 235-amino acid, 28-kD protein is 89% identical to phorbolin-1, with most differences at the N terminus. Like phorbolin-1, phorbolin-1-related protein contains an RNA-editing region but fails to bind apolipoprotein B (APOB; 107730) mRNA. Madsen et al. (1999) concluded that the phorbolin proteins do not manifest any of the functional properties ascribed to APOBEC1 (600130). </p><p>By Northern blot analysis, Jarmuz et al. (2002) determined that APOBEC3B is expressed primarily in peripheral blood leukocytes, and it was detected in most tumor cell lines examined. </p><p>Using RT-PCR, Bogerd et al. (2006) found that APOBEC3A was expressed only in peripheral blood leukocytes and spleen, whereas APOBEC3B was expressed at low levels in a wide range of somatic tissues and in undifferentiated human embryonic stem cell lines. </p>
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<strong>Gene Function</strong>
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<p>Jarmuz et al. (2002) determined that recombinant APOBEC3B expressed in insect cells bound zinc and dimerized with APOBEC3G (607113), but not with APOBEC1. APOBEC3B did not edit APOB, NF1 (613113), or NAT1 (108345) mRNAs. </p><p>Bogerd et al. (2006) found that APOBEC3A and APOBEC3B inhibited LINE-1 retrotransposition in HeLa cells. APOBEC3A and APOBEC3B also inhibited Alu mobility, which is mediated by the LINE-1 ORF2 protein. </p><p>Burns et al. (2013) showed that the DNA cytosine deaminase APOBEC3B is a probable source of somatic C-to-T mutations in breast cancer (114480). APOBEC3B mRNA is upregulated in most primary breast tumors and breast cancer cell lines. Tumors that express high levels of APOBEC3B have twice as many mutations as those that express low levels and are more likely to have mutations in TP53 (191170). Endogenous APOBEC3B protein is predominantly nuclear and the only detectable source of DNA C-to-U editing activity in breast cancer cell line extracts. Knockdown experiments showed that endogenous APOBEC3B correlates with increased levels of genomic uracil, increased mutation frequencies, and C-to-T transitions. Furthermore, induced APOBEC3B overexpression caused cell cycle deviations, cell death, DNA fragmentation, gamma-H2AX (601772) accumulation, and C-to-T mutations. Burns et al. (2013) concluded that their data suggested a model in which APOBEC3B-catalyzed deamination provides a chronic source of DNA damage in breast cancers that could select TP53 inactivation and explained how some tumors evolve rapidly and manifest heterogeneity. </p><p>Following up on the report of Burns et al. (2013), which found that APOBEC3B accounts for up to half of the mutational load in breast carcinomas expressing this enzyme, Burns et al. (2013) addressed whether APOBEC3B is broadly responsible for mutagenesis in multiple tumor types. They analyzed gene expression data and mutation patterns, distributions, and loads for 19 different cancer types, with over 4,800 exomes and 1,000,000 somatic mutations. In at least 6 distinct cancers (bladder, cervix, lung adenocarcinoma, lung squamous cell carcinoma, head and neck, and breast), APOBEC3B is upregulated, its preferred target sequence is frequently mutated, and these mutations are clustered (kataegis). Interpreting these findings in the light of previous genetic, cellular, and biochemical studies, Burns et al. (2013) suggested that the most parsimonious conclusion from these global analyses is that APOBEC3B-catalyzed genomic uracil lesions are responsible for a large proportion of both dispersed and clustered mutations in multiple distinct cancers. </p><p>Maciejowski et al. (2020) examined the mechanism underlying chromothripsis and kataegis using an in vitro telomere crisis model in human cells and showed that the cytoplasmic exonuclease TREX1 (606609), which promotes resolution of dicentric chromosomes, played a prominent role in chromothriptic fragmentation. In the absence of TREX1, genome alterations induced by telomere crisis primarily involved breakage-fusion-bridge cycles and simple genome rearrangements rather than chromothripsis. Kataegis observed at chromothriptic breakpoints was due to cytosine deamination by APOBEC3B. Maciejowski et al. (2020) concluded that chromothripsis and kataegis arise from a combination of nucleolytic processing by TREX1 and cytosine editing by APOBEC3B. </p><p>By classifying diverse patterns of clustered mutagenesis in human tumor genomes, Mas-Ponte and Supek (2020) identified a novel APOBEC3 pattern of nonrecurrent, diffuse hypermutation that they called omikli, after the Greek word meaning 'fog.' This mechanism occurred independently of focal hypermutation, or kataegis (Greek for 'thunderstorm'), and was associated with activity of the DNA mismatch-repair (MMR) pathway. DNA MMR activity provided the single-stranded DNA substrates needed by APOBEC3 and contributed to a substantial proportion of APOBEC3 mutations genomewide. Because MMR was directed toward early-replicating, gene-rich chromosomal domains, APOBEC3 mutagenesis had a high propensity to generate impactful mutations, exceeding that of other common carcinogens, such as tobacco smoke and ultraviolet exposure. The authors concluded that cells direct their DNA repair capacity toward more important genomic regions, making carcinogens that subvert DNA repair highly potent. </p>
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<strong>Gene Structure</strong>
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<p>Jarmuz et al. (2002) determined that the APOBEC3B gene contains 8 exons. The 5-prime untranslated region and the 5-prime flanking region contain repeated sequences. No TATA or CATT box was identified. </p>
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<strong>Mapping</strong>
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<p>Using FISH and cosmid analyses, Madsen et al. (1999) mapped the phorbolin-1-related gene to chromosome 22q13, close to the phorbolin-1 gene and centromeric to the PDGFB gene (190040). </p><p>By FISH and genomic sequence analysis, Jarmuz et al. (2002) mapped the APOBEC3B gene within a tandem array of 7 APOBEC genes or pseudogenes on chromosome 22q12-q13.2. All are oriented with a centromeric 5-prime end. The authors noted that a similar expansion of the APOBEC family is not present in rodents. </p>
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<p>Marchetto et al. (2013) described the generation and initial characterization of induced pluripotent stem (iPS) cells from chimpanzees and bonobos as tools to explore factors that may have contributed to great ape evolution. Comparative gene expression analysis of human and nonhuman primate iPS cells revealed differences in the regulation of long interspersed element-1 (L1) transposons. A force of change in mammalian evolution, L1 elements are retrotransposons that have remained active during primate evolution. Decreased levels of L1-restricting factors APOBEC3B and PIWIL2 (610312) in nonhuman primate iPS cells correlated with increased L1 mobility and endogenous L1 mRNA levels. Moreover, results from the manipulation of APOBEC3B and PIWIL2 levels in iPS cells supported a causal inverse relationship between levels of these proteins and L1 retrotransposition. Finally, Marchetto et al. (2013) found increased copy numbers of species-specific L1 elements in the genome of chimpanzees compared to humans, supporting the idea that increased L1 mobility in nonhuman primates is not limited to iPS cells in culture and may have also occurred in the germline or embryonic cells developmentally upstream to germline specification during primate evolution. Marchetto et al. (2013) proposed that differences in L1 mobility may have differentially shaped the genomes of humans and nonhuman primates and could have continuing adaptive significance. </p>
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<strong>REFERENCES</strong>
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Bogerd, H. P., Wiegand, H. L., Hulme, A. E., Garcia-Perez, J. L., O'Shea, K. S., Moran, J. V., Cullen, B. R.
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<strong>Cellular inhibitors of long interspersed element 1 and Alu retrotransposition.</strong>
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Proc. Nat. Acad. Sci. 103: 8780-8785, 2006.
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[PubMed: 16728505]
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[Full Text: https://doi.org/10.1073/pnas.0603313103]
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Burns, M. B., Lackey, L., Carpenter, M. A., Rathore, A., Land, A. M., Leonard, B., Refsland, E. W., Kotandeniya, D., Tretyakova, N., Nikas, J. B., Yee, D., Temiz, N. A., Donohue, D. E., McDougle, R. M., Brown, W. L., Law, E. K., Harris, R. S.
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<strong>APOBEC3B is an enzymatic source of mutation in breast cancer.</strong>
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Nature 494: 366-370, 2013. Note: Erratum: Nature 502: 580 only, 2013.
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[PubMed: 23389445]
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[Full Text: https://doi.org/10.1038/nature11881]
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Burns, M. B., Temiz, N. A., Harris, R. S.
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<strong>Evidence for APOBEC3B mutagenesis in multiple human cancers.</strong>
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Nature Genet. 45: 977-983, 2013.
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[PubMed: 23852168]
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[Full Text: https://doi.org/10.1038/ng.2701]
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Jarmuz, A., Chester, A., Bayliss, J., Gisbourne, J., Dunham, I., Scott, J., Navaratnam, N.
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<strong>An anthropoid-specific locus of orphan C to U RNA-editing enzymes on chromosome 22.</strong>
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Genomics 79: 285-296, 2002.
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[PubMed: 11863358]
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[Full Text: https://doi.org/10.1006/geno.2002.6718]
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Maciejowski, J., Chatzipli, A., Dananberg, A., Chu, K., Toufektchan, E., Klimczak, L. J., Gordenin, D. A., Campbell, P. J., de Lange, T.
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<strong>APOBEC3-dependent kataegis and TREX1-driven chromothripsis during telomere crisis.</strong>
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Nature Genet. 52: 884-890, 2020.
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[PubMed: 32719516]
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[Full Text: https://doi.org/10.1038/s41588-020-0667-5]
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Madsen, P., Anant, S., Rasmussen, H. H., Gromov, P., Vorum, H., Dumanski, J. P., Tommerup, N., Collins, J. E., Wright, C. L., Dunham, I., MacGinnitie, A. J., Davidson, N. O., Celis, J. E.
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<strong>Psoriasis upregulated phorbolin-1 shares structural but not functional similarity to the mRNA-editing protein apobec-1.</strong>
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J. Invest. Derm. 113: 162-169, 1999.
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[PubMed: 10469298]
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[Full Text: https://doi.org/10.1046/j.1523-1747.1999.00682.x]
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Marchetto, M. C. N., Narvaiza, I., Denli, A. M., Benner, C., Lazzarini, T. A., Nathanson, J. L., Paquola, A. C. M., Desai, K. N., Herai, R. H., Weitzman, M. D., Yeo, G. W., Muotri, A. R., Gage, F. H.
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<strong>Differential L1 regulation in pluripotent stem cells of humans and apes.</strong>
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Nature 503: 525-529, 2013.
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[PubMed: 24153179]
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[Full Text: https://doi.org/10.1038/nature12686]
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Mas-Ponte, D., Supek, F.
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<strong>DNA mismatch repair promotes APOBEC3-mediated diffuse hypermutation in human cancers.</strong>
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Nature Genet. 52: 958-968, 2020.
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[PubMed: 32747826]
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[Full Text: https://doi.org/10.1038/s41588-020-0674-6]
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Contributors:
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<span class="mim-text-font">
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Ada Hamosh - updated : 01/25/2021<br>Ada Hamosh - updated : 01/21/2021<br>Ada Hamosh - updated : 11/12/2014<br>Ada Hamosh - updated : 1/9/2014<br>Ada Hamosh - updated : 3/21/2013<br>Patricia A. Hartz - updated : 7/12/2006<br>Patricia A. Hartz - updated : 5/19/2003
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Paul J. Converse : 7/23/2002
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