A penile spine/vibrissa enhancer sequence is missing in modern and extinct humans but is retained in multiple primates with penile spines and sensory vibrissae
Previous studies show that humans have a large genomic deletion downstream of the Androgen Receptor gene that eliminates an ancestral mammalian regulatory enhancer that drives expression in developing penile spines and sensory vibrissae. Here we use a combination of large-scale sequence analysis and...
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| Veröffentlicht in: | PloS one 2013-12, Vol.8 (12), p.e84258-e84258 |
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| creator | Reno, Philip L McLean, Cory Y Hines, Jasmine E Capellini, Terence D Bejerano, Gill Kingsley, David M |
| description | Previous studies show that humans have a large genomic deletion downstream of the Androgen Receptor gene that eliminates an ancestral mammalian regulatory enhancer that drives expression in developing penile spines and sensory vibrissae. Here we use a combination of large-scale sequence analysis and PCR amplification to demonstrate that the penile spine/vibrissa enhancer is missing in all humans surveyed and in the Neandertal and Denisovan genomes, but is present in DNA samples of chimpanzees and bonobos, as well as in multiple other great apes and primates that maintain some form of penile integumentary appendage and facial vibrissae. These results further strengthen the association between the presence of the penile spine/vibrissa enhancer and the presence of penile spines and macro- or micro- vibrissae in non-human primates as well as show that loss of the enhancer is both a distinctive and characteristic feature of the human lineage. |
| doi_str_mv | 10.1371/journal.pone.0084258 |
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Here we use a combination of large-scale sequence analysis and PCR amplification to demonstrate that the penile spine/vibrissa enhancer is missing in all humans surveyed and in the Neandertal and Denisovan genomes, but is present in DNA samples of chimpanzees and bonobos, as well as in multiple other great apes and primates that maintain some form of penile integumentary appendage and facial vibrissae. These results further strengthen the association between the presence of the penile spine/vibrissa enhancer and the presence of penile spines and macro- or micro- vibrissae in non-human primates as well as show that loss of the enhancer is both a distinctive and characteristic feature of the human lineage.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0084258</identifier><identifier>PMID: 24367647</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Androgen receptors ; Animals ; Apes ; Bioinformatics ; Chimpanzees ; Computer science ; Deoxyribonucleic acid ; Developmental biology ; DNA ; Endangered & extinct species ; Enhancer Elements, Genetic - genetics ; Extinction, Biological ; Gene deletion ; Gene expression ; Genes ; Genetic testing ; Genome, Human - genetics ; Genomes ; Genomics ; Homo neanderthalensis ; Homo sapiens denisova ; Humans ; Male ; Molecular Sequence Data ; Pan paniscus ; Penis ; Penis - metabolism ; Primates ; Primates - genetics ; Receptors, Androgen - genetics ; Sequence Analysis ; Somatosensory Cortex - physiology ; Species Specificity ; Spine ; Studies ; Surveys ; Vibrissae ; Vibrissae - metabolism ; Vibrissae - physiology</subject><ispartof>PloS one, 2013-12, Vol.8 (12), p.e84258-e84258</ispartof><rights>COPYRIGHT 2013 Public Library of Science</rights><rights>2013 Reno et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2013 Reno et al 2013 Reno et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-a715t-afcfd5e50591ffeb37254e056b2f914190dd7c6e12985b03f9ec3e0ed9e9614b3</citedby><cites>FETCH-LOGICAL-a715t-afcfd5e50591ffeb37254e056b2f914190dd7c6e12985b03f9ec3e0ed9e9614b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3868586/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3868586/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2095,2914,23846,27903,27904,53769,53771,79346,79347</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24367647$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Stanyon, Roscoe</contributor><creatorcontrib>Reno, Philip L</creatorcontrib><creatorcontrib>McLean, Cory Y</creatorcontrib><creatorcontrib>Hines, Jasmine E</creatorcontrib><creatorcontrib>Capellini, Terence D</creatorcontrib><creatorcontrib>Bejerano, Gill</creatorcontrib><creatorcontrib>Kingsley, David M</creatorcontrib><title>A penile spine/vibrissa enhancer sequence is missing in modern and extinct humans but is retained in multiple primates with penile spines and sensory vibrissae</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>Previous studies show that humans have a large genomic deletion downstream of the Androgen Receptor gene that eliminates an ancestral mammalian regulatory enhancer that drives expression in developing penile spines and sensory vibrissae. 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Here we use a combination of large-scale sequence analysis and PCR amplification to demonstrate that the penile spine/vibrissa enhancer is missing in all humans surveyed and in the Neandertal and Denisovan genomes, but is present in DNA samples of chimpanzees and bonobos, as well as in multiple other great apes and primates that maintain some form of penile integumentary appendage and facial vibrissae. These results further strengthen the association between the presence of the penile spine/vibrissa enhancer and the presence of penile spines and macro- or micro- vibrissae in non-human primates as well as show that loss of the enhancer is both a distinctive and characteristic feature of the human lineage.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>24367647</pmid><doi>10.1371/journal.pone.0084258</doi><tpages>e84258</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Public Library of Science (PLoS); PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | Androgen receptors Animals Apes Bioinformatics Chimpanzees Computer science Deoxyribonucleic acid Developmental biology DNA Endangered & extinct species Enhancer Elements, Genetic - genetics Extinction, Biological Gene deletion Gene expression Genes Genetic testing Genome, Human - genetics Genomes Genomics Homo neanderthalensis Homo sapiens denisova Humans Male Molecular Sequence Data Pan paniscus Penis Penis - metabolism Primates Primates - genetics Receptors, Androgen - genetics Sequence Analysis Somatosensory Cortex - physiology Species Specificity Spine Studies Surveys Vibrissae Vibrissae - metabolism Vibrissae - physiology |
| title | A penile spine/vibrissa enhancer sequence is missing in modern and extinct humans but is retained in multiple primates with penile spines and sensory vibrissae |
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