OCA2481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations
Asians as well as Europeans have light skin, for which no genes to date are known to be responsible. A mutation, Ala481Thr (c.G1559A), in the oculocutaneous albinism type II ( OCA2 ) gene has approximately 70% function of the wild type allele in melanogenesis. In this study, the distribution of the...
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| Veröffentlicht in: | Journal of human genetics 2007-08, Vol.52 (8), p.690-693 |
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| container_title | Journal of human genetics |
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| creator | Yuasa, Isao Umetsu, Kazuo Harihara, Shinji Miyoshi, Aya Saitou, Naruya Park, Kyung Sook Dashnyam, Bumbein Jin, Feng Lucotte, Gérard Chattopadhyay, Prasanta K. Henke, Lotte Henke, Jürgen |
| description | Asians as well as Europeans have light skin, for which no genes to date are known to be responsible. A mutation, Ala481Thr (c.G1559A), in the oculocutaneous albinism type II (
OCA2
) gene has approximately 70% function of the wild type allele in melanogenesis. In this study, the distribution of the mutation was investigated in a total of 2,615 individuals in 20 populations from various areas.
OCA2*481Thr
prevailed almost exclusively in a northeastern part of Asia. The allele frequency was highest in Buryat (0.24) in Mongolia and showed a north–south downward geographical gradient. These findings suggest that
OCA2*481Thr
arose in a region of low ultraviolet radiation and thereafter spread to neighboring populations. |
| doi_str_mv | 10.1007/s10038-007-0167-9 |
| format | Article |
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OCA2
) gene has approximately 70% function of the wild type allele in melanogenesis. In this study, the distribution of the mutation was investigated in a total of 2,615 individuals in 20 populations from various areas.
OCA2*481Thr
prevailed almost exclusively in a northeastern part of Asia. The allele frequency was highest in Buryat (0.24) in Mongolia and showed a north–south downward geographical gradient. These findings suggest that
OCA2*481Thr
arose in a region of low ultraviolet radiation and thereafter spread to neighboring populations.</description><identifier>ISSN: 1434-5161</identifier><identifier>EISSN: 1435-232X</identifier><identifier>DOI: 10.1007/s10038-007-0167-9</identifier><language>eng</language><publisher>Tokyo: Springer Japan</publisher><subject>Albinism ; Alleles ; Biomedicine ; Gene Expression ; Gene frequency ; Gene Function ; Gene Therapy ; Human Genetics ; Molecular Medicine ; Mutation ; Pigmentation ; Population genetics ; Short Communication ; Ultraviolet radiation</subject><ispartof>Journal of human genetics, 2007-08, Vol.52 (8), p.690-693</ispartof><rights>The Japan Society of Human Genetics and Springer 2007</rights><rights>The Japan Society of Human Genetics and Springer 2007.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c474t-188bdcde3524a03ebf93cf9b1be3dadcbc4b148f7b1397162513c434f7d8fd7e3</citedby><cites>FETCH-LOGICAL-c474t-188bdcde3524a03ebf93cf9b1be3dadcbc4b148f7b1397162513c434f7d8fd7e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids></links><search><creatorcontrib>Yuasa, Isao</creatorcontrib><creatorcontrib>Umetsu, Kazuo</creatorcontrib><creatorcontrib>Harihara, Shinji</creatorcontrib><creatorcontrib>Miyoshi, Aya</creatorcontrib><creatorcontrib>Saitou, Naruya</creatorcontrib><creatorcontrib>Park, Kyung Sook</creatorcontrib><creatorcontrib>Dashnyam, Bumbein</creatorcontrib><creatorcontrib>Jin, Feng</creatorcontrib><creatorcontrib>Lucotte, Gérard</creatorcontrib><creatorcontrib>Chattopadhyay, Prasanta K.</creatorcontrib><creatorcontrib>Henke, Lotte</creatorcontrib><creatorcontrib>Henke, Jürgen</creatorcontrib><title>OCA2481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations</title><title>Journal of human genetics</title><addtitle>J Hum Genet</addtitle><description>Asians as well as Europeans have light skin, for which no genes to date are known to be responsible. A mutation, Ala481Thr (c.G1559A), in the oculocutaneous albinism type II (
OCA2
) gene has approximately 70% function of the wild type allele in melanogenesis. In this study, the distribution of the mutation was investigated in a total of 2,615 individuals in 20 populations from various areas.
OCA2*481Thr
prevailed almost exclusively in a northeastern part of Asia. The allele frequency was highest in Buryat (0.24) in Mongolia and showed a north–south downward geographical gradient. These findings suggest that
OCA2*481Thr
arose in a region of low ultraviolet radiation and thereafter spread to neighboring populations.</description><subject>Albinism</subject><subject>Alleles</subject><subject>Biomedicine</subject><subject>Gene Expression</subject><subject>Gene frequency</subject><subject>Gene Function</subject><subject>Gene Therapy</subject><subject>Human Genetics</subject><subject>Molecular Medicine</subject><subject>Mutation</subject><subject>Pigmentation</subject><subject>Population genetics</subject><subject>Short Communication</subject><subject>Ultraviolet radiation</subject><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp1kEtrwzAQhE1poenjB_Qm6DVqvZJs2ccQ-oJALin0JmRZihUcy5XsQ_595bjQUy-7gzTfwkySPED6BGnKn0OctMBR4hRyjsuLZAGMZphQ8nV51gxnkMN1chPCIY1uwskiabbrFWEF7Bq_RBI1p96ZsVODdZ1skWxb3WpkO9Tb_VF3g5w-lsgGpBrppRq0t2GwCjmDOueHRssQ3zq0ClZGyvVje2bCXXJlZBv0_e--TT5fX3brd7zZvn2sVxusGGcDhqKoalVrmhEmU6orU1JlygoqTWtZq0qxClhheAW05JCTDKiK2QyvC1NzTW-Tx_lu7933qMMgDm70MUwQhJEsBx6jRxfMLuVdCF4b0Xt7lP4kIBVToWIuVExyKlSUkSEzE6K322v_d_l_6Afly3nS</recordid><startdate>20070801</startdate><enddate>20070801</enddate><creator>Yuasa, Isao</creator><creator>Umetsu, Kazuo</creator><creator>Harihara, Shinji</creator><creator>Miyoshi, Aya</creator><creator>Saitou, Naruya</creator><creator>Park, Kyung Sook</creator><creator>Dashnyam, Bumbein</creator><creator>Jin, Feng</creator><creator>Lucotte, Gérard</creator><creator>Chattopadhyay, Prasanta K.</creator><creator>Henke, Lotte</creator><creator>Henke, Jürgen</creator><general>Springer Japan</general><general>Nature Publishing Group</general><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope></search><sort><creationdate>20070801</creationdate><title>OCA2481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations</title><author>Yuasa, Isao ; Umetsu, Kazuo ; Harihara, Shinji ; Miyoshi, Aya ; Saitou, Naruya ; Park, Kyung Sook ; Dashnyam, Bumbein ; Jin, Feng ; Lucotte, Gérard ; Chattopadhyay, Prasanta K. ; Henke, Lotte ; Henke, Jürgen</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c474t-188bdcde3524a03ebf93cf9b1be3dadcbc4b148f7b1397162513c434f7d8fd7e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Albinism</topic><topic>Alleles</topic><topic>Biomedicine</topic><topic>Gene Expression</topic><topic>Gene frequency</topic><topic>Gene Function</topic><topic>Gene Therapy</topic><topic>Human Genetics</topic><topic>Molecular Medicine</topic><topic>Mutation</topic><topic>Pigmentation</topic><topic>Population genetics</topic><topic>Short Communication</topic><topic>Ultraviolet radiation</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yuasa, Isao</creatorcontrib><creatorcontrib>Umetsu, Kazuo</creatorcontrib><creatorcontrib>Harihara, Shinji</creatorcontrib><creatorcontrib>Miyoshi, Aya</creatorcontrib><creatorcontrib>Saitou, Naruya</creatorcontrib><creatorcontrib>Park, Kyung Sook</creatorcontrib><creatorcontrib>Dashnyam, Bumbein</creatorcontrib><creatorcontrib>Jin, Feng</creatorcontrib><creatorcontrib>Lucotte, Gérard</creatorcontrib><creatorcontrib>Chattopadhyay, Prasanta K.</creatorcontrib><creatorcontrib>Henke, Lotte</creatorcontrib><creatorcontrib>Henke, Jürgen</creatorcontrib><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><jtitle>Journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yuasa, Isao</au><au>Umetsu, Kazuo</au><au>Harihara, Shinji</au><au>Miyoshi, Aya</au><au>Saitou, Naruya</au><au>Park, Kyung Sook</au><au>Dashnyam, Bumbein</au><au>Jin, Feng</au><au>Lucotte, Gérard</au><au>Chattopadhyay, Prasanta K.</au><au>Henke, Lotte</au><au>Henke, Jürgen</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>OCA2481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations</atitle><jtitle>Journal of human genetics</jtitle><stitle>J Hum Genet</stitle><date>2007-08-01</date><risdate>2007</risdate><volume>52</volume><issue>8</issue><spage>690</spage><epage>693</epage><pages>690-693</pages><issn>1434-5161</issn><eissn>1435-232X</eissn><abstract>Asians as well as Europeans have light skin, for which no genes to date are known to be responsible. A mutation, Ala481Thr (c.G1559A), in the oculocutaneous albinism type II (
OCA2
) gene has approximately 70% function of the wild type allele in melanogenesis. In this study, the distribution of the mutation was investigated in a total of 2,615 individuals in 20 populations from various areas.
OCA2*481Thr
prevailed almost exclusively in a northeastern part of Asia. The allele frequency was highest in Buryat (0.24) in Mongolia and showed a north–south downward geographical gradient. These findings suggest that
OCA2*481Thr
arose in a region of low ultraviolet radiation and thereafter spread to neighboring populations.</abstract><cop>Tokyo</cop><pub>Springer Japan</pub><doi>10.1007/s10038-007-0167-9</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| source | Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Albinism Alleles Biomedicine Gene Expression Gene frequency Gene Function Gene Therapy Human Genetics Molecular Medicine Mutation Pigmentation Population genetics Short Communication Ultraviolet radiation |
| title | OCA2481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations |
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