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Entry
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- *602117 - NECDIN; NDN
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- OMIM
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<p>
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<span class="h4">*602117</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#text"><strong>Text</strong></a>
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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 role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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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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<a href="#mapping">Mapping</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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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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<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=ENSG00000182636;t=ENST00000649030" 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=4692" 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=602117" 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=ENSG00000182636;t=ENST00000649030" 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_002487" 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_002487" 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=602117" 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=03667&isoform_id=03667_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/NDN" 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/1754971,2516266,4505349,14250591,17380142,119578014,189053476,608785383,608785626,957949866,957949869,957949872,957949875,957949879" 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/Q99608" 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 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=4692" 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=ENSG00000182636;t=ENST00000649030" 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=NDN" 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=NDN" 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+4692" 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/NDN" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:4692" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4692" 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=chr15&hgg_gene=ENST00000649030.2&hgg_start=23685400&hgg_end=23687305&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7675" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=602117[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 class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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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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<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=602117[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/ENSG00000182636" 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=NDN" 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=NDN&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/PA31479" 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 class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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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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<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:7675" 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://flybase.org/reports/FBgn0037481.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:97290" 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/NDN#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:97290" 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/4692/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=4692" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</a>
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<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://reactome.org/content/query?q=NDN&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<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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602117
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</span>
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</span>
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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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NECDIN; NDN
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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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<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=NDN" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">NDN</a></em></strong>
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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/15/21?start=-3&limit=10&highlight=21">15q11.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:23685400-23687305&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'})">15:23,685,400-23,687,305</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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<br />
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>Reasoning that additional imprinted genes may lie within the Prader-Willi syndrome (PWS; <a href="/entry/176270">176270</a>) deletion interval 15q11-q13, <a href="#5" class="mim-tip-reference" title="MacDonald, H. R., Wevrick, R. <strong>The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse.</strong> Hum. Molec. Genet. 6: 1873-1878, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9302265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9302265</a>] [<a href="https://doi.org/10.1093/hmg/6.11.1873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9302265">MacDonald and Wevrick (1997)</a> searched for transcribed sequences in the region between the 2 imprinted genes ZNF127 (MKRN3; <a href="/entry/603856">603856</a>) and SNRPN (<a href="/entry/182279">182279</a>). An EST showed 99% sequence identity to the 3-prime end of a GenBank sequence (<a href="https://www.ncbi.nlm.nih.gov/search/all/?term=U35139" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">U35139</a>), defined as 'a human necdin-related protein mRNA.' Mouse necdin (Ndn) was originally identified by <a href="#6" class="mim-tip-reference" title="Maruyama, K., Usami, M., Aizawa, T., Yoshikawa, K. <strong>A novel brain-specific mRNA encoding nuclear protein (necdin) expressed in neurally differentiated embryonal carcinoma cells.</strong> Biochem. Biophys. Res. Commun. 178: 291-296, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2069569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2069569</a>] [<a href="https://doi.org/10.1016/0006-291x(91)91812-q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2069569">Maruyama et al. (1991)</a> as a protein encoded by a neural differentiation-specific mRNA, derived from embryonal carcinoma cells. The necdin protein was localized to the nuclei of postmitotic neurons and was expressed in almost all postmitotic neurons in the CNS from the beginning of neural differentiation and into adult life. <a href="#5" class="mim-tip-reference" title="MacDonald, H. R., Wevrick, R. <strong>The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse.</strong> Hum. Molec. Genet. 6: 1873-1878, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9302265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9302265</a>] [<a href="https://doi.org/10.1093/hmg/6.11.1873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9302265">MacDonald and Wevrick (1997)</a> demonstrated that expression of the Ndn mouse gene and the NDN human gene is limited to the paternal allele, with highest levels of expression in brain and placenta. They suggested that loss of necdin gene expression may contribute to the disorder of brain development in individuals with PWS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2069569+9302265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Jay, P., Rougeulle, C., Massacrier, A., Moncla, A., Mattei, M.-G., Malzac, P., Roeckel, N., Taviaux, S., Lefranc, J.-L. B., Cau, P., Berta, P., Lalande, M., Muscatelli, F. <strong>The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region.</strong> Nature Genet. 17: 357-360, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354807</a>] [<a href="https://doi.org/10.1038/ng1197-357" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354807">Jay et al. (1997)</a> likewise cloned a human cDNA with close similarities to the mouse necdin gene. NDN displayed several characteristics of an imprinted locus, including allelic DNA methylation and an asynchronous DNA replication. <a href="#3" class="mim-tip-reference" title="Jay, P., Rougeulle, C., Massacrier, A., Moncla, A., Mattei, M.-G., Malzac, P., Roeckel, N., Taviaux, S., Lefranc, J.-L. B., Cau, P., Berta, P., Lalande, M., Muscatelli, F. <strong>The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region.</strong> Nature Genet. 17: 357-360, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354807</a>] [<a href="https://doi.org/10.1038/ng1197-357" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354807">Jay et al. (1997)</a> found a complete lack of NDN expression in PWS brain and fibroblasts, indicating that the gene is expressed exclusively from the paternal allele in these tissues and suggesting a possible role of this gene in PWS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9354807" 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>Necdin is a growth suppressor expressed in virtually all postmitotic neurons in the brain. <a href="#9" class="mim-tip-reference" title="Nakada, Y., Taniura, H., Uetsuki, T., Inazawa, J., Yoshikawa, K. <strong>The human chromosomal gene for necdin, a neuronal growth suppressor, in the Prader-Willi syndrome deletion region.</strong> Gene 213: 65-72, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9630521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9630521</a>] [<a href="https://doi.org/10.1016/s0378-1119(98)00206-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9630521">Nakada et al. (1998)</a> isolated and characterized the human NDN gene and its promoter region. They found that NDN encodes a protein of 321 amino acids, 4 residues shorter than the mouse protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9630521" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Watrin, F., Roeckel, N., Lacroix, L., Mignon, C., Mattei, M.-G., Disteche, C., Muscatelli, F. <strong>The mouse necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region.</strong> Europ. J. Hum. Genet. 5: 324-332, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9412790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9412790</a>]" pmid="9412790">Watrin et al. (1997)</a> demonstrated paternal-specific expression of the Ndn gene in mouse CNS and showed that paternal alleles display a differential methylation profile in the coding region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9412790" 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="#11" class="mim-tip-reference" title="Tcherpakov, M., Bronfman, F. C., Conticello, S. G., Vaskovsky, A., Levy, Z., Niinobe, M., Yoshikawa, K., Arenas, E., Fainzilber, M. <strong>The p75 neurotrophin receptor interacts with multiple MAGE proteins.</strong> J. Biol. Chem. 277: 49101-49104, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414813</a>] [<a href="https://doi.org/10.1074/jbc.C200533200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12414813">Tcherpakov et al. (2002)</a> found that necdin was expressed as a cytoplasmic protein in a rat neural precursor cell line. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12414813" 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="#11" class="mim-tip-reference" title="Tcherpakov, M., Bronfman, F. C., Conticello, S. G., Vaskovsky, A., Levy, Z., Niinobe, M., Yoshikawa, K., Arenas, E., Fainzilber, M. <strong>The p75 neurotrophin receptor interacts with multiple MAGE proteins.</strong> J. Biol. Chem. 277: 49101-49104, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414813</a>] [<a href="https://doi.org/10.1074/jbc.C200533200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12414813">Tcherpakov et al. (2002)</a> found that the intracellular domain of nerve growth factor receptor (NGFR; <a href="/entry/162010">162010</a>) interacted with necdin and Mageh1 (<a href="/entry/300548">300548</a>) in rodent neural tissue, and the interaction was enhanced by ligand stimulation. Rat neural precursor cells transfected with necdin or Mageh1 exhibited accelerated differentiation in response to NGF (see <a href="/entry/162030">162030</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12414813" 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>Necdin and Magel2 (<a href="/entry/605283">605283</a>) are related proteins inactivated in PWS. <a href="#4" class="mim-tip-reference" title="Lee, S., Walker, C. L., Karten, B., Kuny, S. L., Tennese, A. A., O'Neill, M. A., Wevrick, R. <strong>Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth.</strong> Hum. Molec. Genet. 14: 627-637, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15649943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15649943</a>] [<a href="https://doi.org/10.1093/hmg/ddi059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15649943">Lee et al. (2005)</a> demonstrated that necdin and Magel2 bound to and prevented proteasomal degradation of Fez1 (<a href="/entry/604825">604825</a>), which is implicated in axonal outgrowth and kinesin-mediated transport, and also bound to BBS4 (<a href="/entry/600374">600374</a>) protein in cotransfected cells. The interactions among necdin, Magel2, Fez1, and BBS4 occurred at or near centrosomes. Centrosomal or pericentriolar dysfunction has previously been implicated in BBS (<a href="/entry/209900">209900</a>) and may also be important in features of PWS that overlap with BBS, such as learning disabilities, hypogonadism, and obesity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15649943" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Miller, N. L. G., Wevrick, R., Mellon, P. L. <strong>Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development.</strong> Hum. Molec. Genet. 18: 248-260, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18930956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18930956</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18930956[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/10.1093/hmg/ddn344" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18930956">Miller et al. (2009)</a> showed that necdin was not expressed in an immature, migratory gonadotropin-releasing hormone (GNRH1; <a href="/entry/152760">152760</a>) neuronal cell line (GN11), but high levels were present in a mature GNRH neuronal cell line (GT1-7). Furthermore, overexpression of necdin activated GNRH transcription through cis elements bound by the homeodomain repressor Msx1 (<a href="/entry/142983">142983</a>) that were located in the enhancer and promoter of the GNRH1 gene, and knockdown of necdin expression reduced GNRH gene expression. Overexpression of Necdin relieved Msx repression of GNRH transcription through these elements and necdin coimmunoprecipitated with Msx from GNRH neuronal cells, indicating that necdin may activate GNRH gene expression by preventing repression of GNRH gene expression by Msx. Necdin was necessary for generation of the full complement of GNRH neurons during mouse development and extension of GNRH axons to the median eminence. As the NDN gene maps to the Prader-Willi syndrome candidate region and is highly expressed in mature hypothalamic neurons, <a href="#7" class="mim-tip-reference" title="Miller, N. L. G., Wevrick, R., Mellon, P. L. <strong>Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development.</strong> Hum. Molec. Genet. 18: 248-260, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18930956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18930956</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18930956[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/10.1093/hmg/ddn344" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18930956">Miller et al. (2009)</a> hypothesized that lack of necdin during development may contribute to the hypogonadotrophic hypogonadal phenotype in individuals with PWS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18930956" 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="#5" class="mim-tip-reference" title="MacDonald, H. R., Wevrick, R. <strong>The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse.</strong> Hum. Molec. Genet. 6: 1873-1878, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9302265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9302265</a>] [<a href="https://doi.org/10.1093/hmg/6.11.1873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9302265">MacDonald and Wevrick (1997)</a> determined that the mouse Ndn gene contains a single exon. Consistent with the observation that imprinted genes have few and small introns (<a href="#2" class="mim-tip-reference" title="Hurst, L. D., McVean, G., Moore, T. <strong>Imprinted genes have few and small introns. (Letter)</strong> Nature Genet. 12: 234-237, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8589711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8589711</a>] [<a href="https://doi.org/10.1038/ng0396-234" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8589711">Hurst et al., 1996</a>), human NDN is contained within a single exon, like its mouse ortholog. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8589711+9302265" 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="#9" class="mim-tip-reference" title="Nakada, Y., Taniura, H., Uetsuki, T., Inazawa, J., Yoshikawa, K. <strong>The human chromosomal gene for necdin, a neuronal growth suppressor, in the Prader-Willi syndrome deletion region.</strong> Gene 213: 65-72, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9630521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9630521</a>] [<a href="https://doi.org/10.1016/s0378-1119(98)00206-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9630521">Nakada et al. (1998)</a> identified CpG islands in a region of NDN extending from the proximal 5-prime flanking sequence to the protein-coding region. The 5-prime flanking sequence, which lacks canonical TATA and CAAT boxes, possessed a promoter activity in postmitotic neurons derived from murine embryonal carcinoma P19 cells. Methylation in vitro of HhaI CpG sites in the promoter region reduced transcriptional activity. These results suggested that the necdin gene is silenced through methylation of the CpG island encompassing its promoter region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9630521" 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="#5" class="mim-tip-reference" title="MacDonald, H. R., Wevrick, R. <strong>The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse.</strong> Hum. Molec. Genet. 6: 1873-1878, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9302265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9302265</a>] [<a href="https://doi.org/10.1093/hmg/6.11.1873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9302265">MacDonald and Wevrick (1997)</a> concluded that the NDN gene is a single locus in proximal 15q, as determined by radiation hybrid mapping, localization of the appropriate PCR-amplified fragments to overlapping YACs, and absence in other YACs from the PWS deletion region. The mouse Ndn gene was mapped to chromosome 7 in a region of conserved synteny with human 15q11-q13 by <a href="#5" class="mim-tip-reference" title="MacDonald, H. R., Wevrick, R. <strong>The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse.</strong> Hum. Molec. Genet. 6: 1873-1878, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9302265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9302265</a>] [<a href="https://doi.org/10.1093/hmg/6.11.1873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9302265">MacDonald and Wevrick (1997)</a> using genetic mapping in an interspecific backcross panel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9302265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Jay, P., Rougeulle, C., Massacrier, A., Moncla, A., Mattei, M.-G., Malzac, P., Roeckel, N., Taviaux, S., Lefranc, J.-L. B., Cau, P., Berta, P., Lalande, M., Muscatelli, F. <strong>The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region.</strong> Nature Genet. 17: 357-360, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354807</a>] [<a href="https://doi.org/10.1038/ng1197-357" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354807">Jay et al. (1997)</a> mapped the NDN gene to 15q11-q13 by fluorescence in situ hybridization (FISH), and confirmed the location by PCR analysis of DNA extracted from a panel of hamster/human somatic cell hybrids. Both approaches suggested that the NDN gene maps to 15q11-q13 but that a homologous gene or pseudogene maps to 12q21. <a href="#3" class="mim-tip-reference" title="Jay, P., Rougeulle, C., Massacrier, A., Moncla, A., Mattei, M.-G., Malzac, P., Roeckel, N., Taviaux, S., Lefranc, J.-L. B., Cau, P., Berta, P., Lalande, M., Muscatelli, F. <strong>The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region.</strong> Nature Genet. 17: 357-360, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354807</a>] [<a href="https://doi.org/10.1038/ng1197-357" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354807">Jay et al. (1997)</a> also mapped NDN by hybridization to a YAC contig covering the PWS critical region. They suggested that NDN is located approximately 100 kb distal to ZNF127 and 1 to 1.5 Mb proximal to SNRPN. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9354807" 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 fluorescence in situ hybridization, <a href="#9" class="mim-tip-reference" title="Nakada, Y., Taniura, H., Uetsuki, T., Inazawa, J., Yoshikawa, K. <strong>The human chromosomal gene for necdin, a neuronal growth suppressor, in the Prader-Willi syndrome deletion region.</strong> Gene 213: 65-72, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9630521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9630521</a>] [<a href="https://doi.org/10.1016/s0378-1119(98)00206-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9630521">Nakada et al. (1998)</a> localized the NDN gene to chromosome 15q11.2-q12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9630521" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Watrin, F., Roeckel, N., Lacroix, L., Mignon, C., Mattei, M.-G., Disteche, C., Muscatelli, F. <strong>The mouse necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region.</strong> Europ. J. Hum. Genet. 5: 324-332, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9412790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9412790</a>]" pmid="9412790">Watrin et al. (1997)</a> established the localization of the mouse necdin gene in the region of mouse chromosome 7 showing conserved synteny to the human PWS region. By FISH, they demonstrated an asynchronous pattern of replication at the Ndn locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9412790" 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="#12" class="mim-tip-reference" title="Tsai, T.-F., Armstrong, D., Beaudet, A. L. <strong>Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome. (Letter)</strong> Nature Genet. 22: 15-16, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10319852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10319852</a>] [<a href="https://doi.org/10.1038/8722" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10319852">Tsai et al. (1999)</a> prepared a null mutation in the mouse by deleting the coding region for Ndn, and transmitted the deletion to the germline. Mice with paternal deficiency and homozygous mice were viable. Northern blot analysis showed absence of Ndn expression in brain and liver of mice heterozygous for paternal deficiency. Mice of all genotypes were recovered at the predicted mendelian ratios at weaning following matings between heterozygotes. Mice of all genotypes, including homozygotes, were fertile and did not develop obesity up to 10 months of age. Behavioral studies had not yet been done; thus, any potential relationship to the mental retardation of PWS remained unknown. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10319852" 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>To determine the possible contribution of Ndn to the Prader-Willi syndrome phenotype, <a href="#1" class="mim-tip-reference" title="Gerard, M., Hernandez, L., Wevrick, R., Stewart, C. L. <strong>Disruption of the mouse necdin gene results in early post-natal lethality.</strong> Nature Genet. 23: 199-202, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10508517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10508517</a>] [<a href="https://doi.org/10.1038/13828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10508517">Gerard et al. (1999)</a> generated Ndn mutant mice. Heterozygous mice inheriting the mutated maternal allele were indistinguishable from their wildtype littermates. On the other hand, mice carrying a paternally inherited Ndn deletion allele demonstrated early postnatal lethality. <a href="#1" class="mim-tip-reference" title="Gerard, M., Hernandez, L., Wevrick, R., Stewart, C. L. <strong>Disruption of the mouse necdin gene results in early post-natal lethality.</strong> Nature Genet. 23: 199-202, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10508517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10508517</a>] [<a href="https://doi.org/10.1038/13828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10508517">Gerard et al. (1999)</a> claimed this was the first example of a single gene being responsible for phenotypes associated with PWS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10508517" 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="#10" class="mim-tip-reference" title="Nicholls, R. D. <strong>Incriminating gene suspects, Prader-Willi style.</strong> Nature Genet. 23: 132-134, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10508501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10508501</a>] [<a href="https://doi.org/10.1038/13758" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10508501">Nicholls (1999)</a> commented on the work of <a href="#1" class="mim-tip-reference" title="Gerard, M., Hernandez, L., Wevrick, R., Stewart, C. L. <strong>Disruption of the mouse necdin gene results in early post-natal lethality.</strong> Nature Genet. 23: 199-202, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10508517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10508517</a>] [<a href="https://doi.org/10.1038/13828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10508517">Gerard et al. (1999)</a>, which he called 'the latest episode of a seat-gripping saga.' He noted the discrepancy between the findings of <a href="#12" class="mim-tip-reference" title="Tsai, T.-F., Armstrong, D., Beaudet, A. L. <strong>Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome. (Letter)</strong> Nature Genet. 22: 15-16, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10319852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10319852</a>] [<a href="https://doi.org/10.1038/8722" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10319852">Tsai et al. (1999)</a> and those of <a href="#1" class="mim-tip-reference" title="Gerard, M., Hernandez, L., Wevrick, R., Stewart, C. L. <strong>Disruption of the mouse necdin gene results in early post-natal lethality.</strong> Nature Genet. 23: 199-202, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10508517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10508517</a>] [<a href="https://doi.org/10.1038/13828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10508517">Gerard et al. (1999)</a>. He further discussed other 'suspicious characters,' i.e., other genes that may be implicated in PWS, and suggested that several genes in the PWS region may affect the failure-to-thrive phenotype. He suggested that this aspect of the PWS story resembles the plot of 'Murder on the Orient Express' by Agatha Christie. The famed train transported a number of suspects, all of whom were eventually found to have had a part in the crime. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10319852+10508501+10508517" 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="#8" class="mim-tip-reference" title="Muscatelli, F., Abrous, D. N., Massacrier, A., Boccaccio, I., Le Moal, M., Cau, P., Cremer, H. <strong>Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome.</strong> Hum. Molec. Genet. 9: 3101-3110, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11115855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11115855</a>] [<a href="https://doi.org/10.1093/hmg/9.20.3101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11115855">Muscatelli et al. (2000)</a> produced mice deficient for necdin and suggested that postnatal lethality associated with loss of the paternal gene may vary depending on the strain. Viable necdin mutants showed a reduction in both oxytocin (<a href="/entry/167050">167050</a>)-producing and luteinizing hormone-releasing hormone (LHRH; <a href="/entry/152760">152760</a>)-producing neurons in the hypothalamus; increased skin scraping activity; and improved spatial learning and memory. The authors proposed that underexpression of necdin is responsible for at least a subset of the multiple clinical manifestations of PWS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11115855" 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="#4" class="mim-tip-reference" title="Lee, S., Walker, C. L., Karten, B., Kuny, S. L., Tennese, A. A., O'Neill, M. A., Wevrick, R. <strong>Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth.</strong> Hum. Molec. Genet. 14: 627-637, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15649943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15649943</a>] [<a href="https://doi.org/10.1093/hmg/ddi059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15649943">Lee et al. (2005)</a> demonstrated that morphologic abnormalities in axonal outgrowth and fasciculation manifested in several regions of the nervous system in Ndn-null mouse embryos, including axons of sympathetic, retinal ganglion cell, serotonergic, and catecholaminergic neurons. <a href="#4" class="mim-tip-reference" title="Lee, S., Walker, C. L., Karten, B., Kuny, S. L., Tennese, A. A., O'Neill, M. A., Wevrick, R. <strong>Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth.</strong> Hum. Molec. Genet. 14: 627-637, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15649943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15649943</a>] [<a href="https://doi.org/10.1093/hmg/ddi059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15649943">Lee et al. (2005)</a> concluded that necdin mediates intracellular processes essential for neurite outgrowth and that loss of necdin may impinge on axonal outgrowth, and further suggested that loss of necdin may contribute to the neurologic phenotype of PWS. They speculated that codeletion of necdin and the related protein Magel2 (<a href="/entry/605283">605283</a>) may explain the lack of single gene mutations in PWS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15649943" 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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Gerard, M., Hernandez, L., Wevrick, R., Stewart, C. L.
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<strong>Disruption of the mouse necdin gene results in early post-natal lethality.</strong>
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Nature Genet. 23: 199-202, 1999.
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Jay, P., Rougeulle, C., Massacrier, A., Moncla, A., Mattei, M.-G., Malzac, P., Roeckel, N., Taviaux, S., Lefranc, J.-L. B., Cau, P., Berta, P., Lalande, M., Muscatelli, F.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354807</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9354807" 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/ng1197-357" target="_blank">Full Text</a>]
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Lee, S., Walker, C. L., Karten, B., Kuny, S. L., Tennese, A. A., O'Neill, M. A., Wevrick, R.
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<strong>Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth.</strong>
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Hum. Molec. Genet. 14: 627-637, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15649943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15649943</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15649943" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18930956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18930956</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18930956[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=18930956" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddn344" target="_blank">Full Text</a>]
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Muscatelli, F., Abrous, D. N., Massacrier, A., Boccaccio, I., Le Moal, M., Cau, P., Cremer, H.
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<strong>Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome.</strong>
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Hum. Molec. Genet. 9: 3101-3110, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11115855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11115855</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11115855" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/9.20.3101" target="_blank">Full Text</a>]
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<strong>The human chromosomal gene for necdin, a neuronal growth suppressor, in the Prader-Willi syndrome deletion region.</strong>
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Gene 213: 65-72, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9630521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9630521</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9630521" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0378-1119(98)00206-6" target="_blank">Full Text</a>]
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<a id="Nicholls1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nicholls, R. D.
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<strong>Incriminating gene suspects, Prader-Willi style.</strong>
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Nature Genet. 23: 132-134, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10508501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10508501</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10508501" 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/10.1038/13758" target="_blank">Full Text</a>]
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<a id="Tcherpakov2002" class="mim-anchor"></a>
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Tcherpakov, M., Bronfman, F. C., Conticello, S. G., Vaskovsky, A., Levy, Z., Niinobe, M., Yoshikawa, K., Arenas, E., Fainzilber, M.
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<strong>The p75 neurotrophin receptor interacts with multiple MAGE proteins.</strong>
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J. Biol. Chem. 277: 49101-49104, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414813</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12414813" 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/10.1074/jbc.C200533200" target="_blank">Full Text</a>]
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<a id="Tsai1999" class="mim-anchor"></a>
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Tsai, T.-F., Armstrong, D., Beaudet, A. L.
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<strong>Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome. (Letter)</strong>
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Nature Genet. 22: 15-16, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10319852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10319852</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10319852" 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/10.1038/8722" target="_blank">Full Text</a>]
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Watrin, F., Roeckel, N., Lacroix, L., Mignon, C., Mattei, M.-G., Disteche, C., Muscatelli, F.
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<strong>The mouse necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region.</strong>
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Europ. J. Hum. Genet. 5: 324-332, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9412790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9412790</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9412790" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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George E. Tiller - updated : 04/17/2009
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George E. Tiller - updated : 2/5/2008<br>Patricia A. Hartz - updated : 7/22/2005<br>George E. Tiller - updated : 3/5/2001<br>Victor A. McKusick - updated : 9/28/1999<br>Victor A. McKusick - updated : 4/27/1999<br>Victor A. McKusick - updated : 8/26/1998<br>Victor A. McKusick - updated : 12/19/1997
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Creation Date:
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Victor A. McKusick : 11/12/1997
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alopez : 04/17/2009
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wwang : 2/12/2008<br>terry : 2/5/2008<br>mgross : 7/22/2005<br>mgross : 5/12/2005<br>terry : 2/2/2005<br>carol : 11/5/2001<br>cwells : 3/6/2001<br>cwells : 3/5/2001<br>cwells : 3/5/2001<br>mgross : 10/21/1999<br>alopez : 9/30/1999<br>terry : 9/28/1999<br>alopez : 4/29/1999<br>terry : 4/27/1999<br>carol : 8/27/1998<br>terry : 8/26/1998<br>mark : 1/10/1998<br>terry : 12/19/1997<br>dholmes : 11/18/1997<br>jenny : 11/12/1997
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<strong>*</strong> 602117
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NECDIN; NDN
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Cytogenetic location: 15q11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 15:23,685,400-23,687,305 </span>
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</em>
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<span class="small">(from NCBI)</span>
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<strong>Cloning and Expression</strong>
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<p>Reasoning that additional imprinted genes may lie within the Prader-Willi syndrome (PWS; 176270) deletion interval 15q11-q13, MacDonald and Wevrick (1997) searched for transcribed sequences in the region between the 2 imprinted genes ZNF127 (MKRN3; 603856) and SNRPN (182279). An EST showed 99% sequence identity to the 3-prime end of a GenBank sequence (U35139), defined as 'a human necdin-related protein mRNA.' Mouse necdin (Ndn) was originally identified by Maruyama et al. (1991) as a protein encoded by a neural differentiation-specific mRNA, derived from embryonal carcinoma cells. The necdin protein was localized to the nuclei of postmitotic neurons and was expressed in almost all postmitotic neurons in the CNS from the beginning of neural differentiation and into adult life. MacDonald and Wevrick (1997) demonstrated that expression of the Ndn mouse gene and the NDN human gene is limited to the paternal allele, with highest levels of expression in brain and placenta. They suggested that loss of necdin gene expression may contribute to the disorder of brain development in individuals with PWS. </p><p>Jay et al. (1997) likewise cloned a human cDNA with close similarities to the mouse necdin gene. NDN displayed several characteristics of an imprinted locus, including allelic DNA methylation and an asynchronous DNA replication. Jay et al. (1997) found a complete lack of NDN expression in PWS brain and fibroblasts, indicating that the gene is expressed exclusively from the paternal allele in these tissues and suggesting a possible role of this gene in PWS. </p><p>Necdin is a growth suppressor expressed in virtually all postmitotic neurons in the brain. Nakada et al. (1998) isolated and characterized the human NDN gene and its promoter region. They found that NDN encodes a protein of 321 amino acids, 4 residues shorter than the mouse protein. </p><p>Watrin et al. (1997) demonstrated paternal-specific expression of the Ndn gene in mouse CNS and showed that paternal alleles display a differential methylation profile in the coding region. </p><p>Tcherpakov et al. (2002) found that necdin was expressed as a cytoplasmic protein in a rat neural precursor cell line. </p>
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<strong>Gene Function</strong>
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<p>Tcherpakov et al. (2002) found that the intracellular domain of nerve growth factor receptor (NGFR; 162010) interacted with necdin and Mageh1 (300548) in rodent neural tissue, and the interaction was enhanced by ligand stimulation. Rat neural precursor cells transfected with necdin or Mageh1 exhibited accelerated differentiation in response to NGF (see 162030). </p><p>Necdin and Magel2 (605283) are related proteins inactivated in PWS. Lee et al. (2005) demonstrated that necdin and Magel2 bound to and prevented proteasomal degradation of Fez1 (604825), which is implicated in axonal outgrowth and kinesin-mediated transport, and also bound to BBS4 (600374) protein in cotransfected cells. The interactions among necdin, Magel2, Fez1, and BBS4 occurred at or near centrosomes. Centrosomal or pericentriolar dysfunction has previously been implicated in BBS (209900) and may also be important in features of PWS that overlap with BBS, such as learning disabilities, hypogonadism, and obesity. </p><p>Miller et al. (2009) showed that necdin was not expressed in an immature, migratory gonadotropin-releasing hormone (GNRH1; 152760) neuronal cell line (GN11), but high levels were present in a mature GNRH neuronal cell line (GT1-7). Furthermore, overexpression of necdin activated GNRH transcription through cis elements bound by the homeodomain repressor Msx1 (142983) that were located in the enhancer and promoter of the GNRH1 gene, and knockdown of necdin expression reduced GNRH gene expression. Overexpression of Necdin relieved Msx repression of GNRH transcription through these elements and necdin coimmunoprecipitated with Msx from GNRH neuronal cells, indicating that necdin may activate GNRH gene expression by preventing repression of GNRH gene expression by Msx. Necdin was necessary for generation of the full complement of GNRH neurons during mouse development and extension of GNRH axons to the median eminence. As the NDN gene maps to the Prader-Willi syndrome candidate region and is highly expressed in mature hypothalamic neurons, Miller et al. (2009) hypothesized that lack of necdin during development may contribute to the hypogonadotrophic hypogonadal phenotype in individuals with PWS. </p>
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<strong>Gene Structure</strong>
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<p>MacDonald and Wevrick (1997) determined that the mouse Ndn gene contains a single exon. Consistent with the observation that imprinted genes have few and small introns (Hurst et al., 1996), human NDN is contained within a single exon, like its mouse ortholog. </p><p>Nakada et al. (1998) identified CpG islands in a region of NDN extending from the proximal 5-prime flanking sequence to the protein-coding region. The 5-prime flanking sequence, which lacks canonical TATA and CAAT boxes, possessed a promoter activity in postmitotic neurons derived from murine embryonal carcinoma P19 cells. Methylation in vitro of HhaI CpG sites in the promoter region reduced transcriptional activity. These results suggested that the necdin gene is silenced through methylation of the CpG island encompassing its promoter region. </p>
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<strong>Mapping</strong>
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<p>MacDonald and Wevrick (1997) concluded that the NDN gene is a single locus in proximal 15q, as determined by radiation hybrid mapping, localization of the appropriate PCR-amplified fragments to overlapping YACs, and absence in other YACs from the PWS deletion region. The mouse Ndn gene was mapped to chromosome 7 in a region of conserved synteny with human 15q11-q13 by MacDonald and Wevrick (1997) using genetic mapping in an interspecific backcross panel. </p><p>Jay et al. (1997) mapped the NDN gene to 15q11-q13 by fluorescence in situ hybridization (FISH), and confirmed the location by PCR analysis of DNA extracted from a panel of hamster/human somatic cell hybrids. Both approaches suggested that the NDN gene maps to 15q11-q13 but that a homologous gene or pseudogene maps to 12q21. Jay et al. (1997) also mapped NDN by hybridization to a YAC contig covering the PWS critical region. They suggested that NDN is located approximately 100 kb distal to ZNF127 and 1 to 1.5 Mb proximal to SNRPN. </p><p>By fluorescence in situ hybridization, Nakada et al. (1998) localized the NDN gene to chromosome 15q11.2-q12. </p><p>Watrin et al. (1997) established the localization of the mouse necdin gene in the region of mouse chromosome 7 showing conserved synteny to the human PWS region. By FISH, they demonstrated an asynchronous pattern of replication at the Ndn locus. </p>
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<strong>Animal Model</strong>
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<p>Tsai et al. (1999) prepared a null mutation in the mouse by deleting the coding region for Ndn, and transmitted the deletion to the germline. Mice with paternal deficiency and homozygous mice were viable. Northern blot analysis showed absence of Ndn expression in brain and liver of mice heterozygous for paternal deficiency. Mice of all genotypes were recovered at the predicted mendelian ratios at weaning following matings between heterozygotes. Mice of all genotypes, including homozygotes, were fertile and did not develop obesity up to 10 months of age. Behavioral studies had not yet been done; thus, any potential relationship to the mental retardation of PWS remained unknown. </p><p>To determine the possible contribution of Ndn to the Prader-Willi syndrome phenotype, Gerard et al. (1999) generated Ndn mutant mice. Heterozygous mice inheriting the mutated maternal allele were indistinguishable from their wildtype littermates. On the other hand, mice carrying a paternally inherited Ndn deletion allele demonstrated early postnatal lethality. Gerard et al. (1999) claimed this was the first example of a single gene being responsible for phenotypes associated with PWS. </p><p>Nicholls (1999) commented on the work of Gerard et al. (1999), which he called 'the latest episode of a seat-gripping saga.' He noted the discrepancy between the findings of Tsai et al. (1999) and those of Gerard et al. (1999). He further discussed other 'suspicious characters,' i.e., other genes that may be implicated in PWS, and suggested that several genes in the PWS region may affect the failure-to-thrive phenotype. He suggested that this aspect of the PWS story resembles the plot of 'Murder on the Orient Express' by Agatha Christie. The famed train transported a number of suspects, all of whom were eventually found to have had a part in the crime. </p><p>Muscatelli et al. (2000) produced mice deficient for necdin and suggested that postnatal lethality associated with loss of the paternal gene may vary depending on the strain. Viable necdin mutants showed a reduction in both oxytocin (167050)-producing and luteinizing hormone-releasing hormone (LHRH; 152760)-producing neurons in the hypothalamus; increased skin scraping activity; and improved spatial learning and memory. The authors proposed that underexpression of necdin is responsible for at least a subset of the multiple clinical manifestations of PWS. </p><p>Lee et al. (2005) demonstrated that morphologic abnormalities in axonal outgrowth and fasciculation manifested in several regions of the nervous system in Ndn-null mouse embryos, including axons of sympathetic, retinal ganglion cell, serotonergic, and catecholaminergic neurons. Lee et al. (2005) concluded that necdin mediates intracellular processes essential for neurite outgrowth and that loss of necdin may impinge on axonal outgrowth, and further suggested that loss of necdin may contribute to the neurologic phenotype of PWS. They speculated that codeletion of necdin and the related protein Magel2 (605283) may explain the lack of single gene mutations in PWS. </p>
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<strong>REFERENCES</strong>
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Gerard, M., Hernandez, L., Wevrick, R., Stewart, C. L.
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<strong>Disruption of the mouse necdin gene results in early post-natal lethality.</strong>
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Nature Genet. 23: 199-202, 1999.
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[PubMed: 10508517]
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Jay, P., Rougeulle, C., Massacrier, A., Moncla, A., Mattei, M.-G., Malzac, P., Roeckel, N., Taviaux, S., Lefranc, J.-L. B., Cau, P., Berta, P., Lalande, M., Muscatelli, F.
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Maruyama, K., Usami, M., Aizawa, T., Yoshikawa, K.
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Miller, N. L. G., Wevrick, R., Mellon, P. L.
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<strong>Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development.</strong>
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Muscatelli, F., Abrous, D. N., Massacrier, A., Boccaccio, I., Le Moal, M., Cau, P., Cremer, H.
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<strong>Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome.</strong>
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Nakada, Y., Taniura, H., Uetsuki, T., Inazawa, J., Yoshikawa, K.
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<strong>The human chromosomal gene for necdin, a neuronal growth suppressor, in the Prader-Willi syndrome deletion region.</strong>
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Tsai, T.-F., Armstrong, D., Beaudet, A. L.
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<strong>Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome. (Letter)</strong>
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Watrin, F., Roeckel, N., Lacroix, L., Mignon, C., Mattei, M.-G., Disteche, C., Muscatelli, F.
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<strong>The mouse necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region.</strong>
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George E. Tiller - updated : 04/17/2009<br>George E. Tiller - updated : 2/5/2008<br>Patricia A. Hartz - updated : 7/22/2005<br>George E. Tiller - updated : 3/5/2001<br>Victor A. McKusick - updated : 9/28/1999<br>Victor A. McKusick - updated : 4/27/1999<br>Victor A. McKusick - updated : 8/26/1998<br>Victor A. McKusick - updated : 12/19/1997
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