{"id":55327,"date":"2017-12-03T03:40:18","date_gmt":"2017-12-03T03:40:18","guid":{"rendered":"http:\/\/www.mixedracestudies.org\/?p=55327"},"modified":"2017-12-03T22:27:13","modified_gmt":"2017-12-03T22:27:13","slug":"an-unexpectedly-complex-architecture-for-skin-pigmentation-in-africans","status":"publish","type":"post","link":"https:\/\/mixedracestudies.org\/wp\/?p=55327","title":{"rendered":"An Unexpectedly Complex Architecture for Skin Pigmentation in Africans"},"content":{"rendered":"<p><a href=\"http:\/\/dx.doi.org\/10.1016\/j.cell.2017.11.015\" target=\"_blank\" rel=\"noopener\"><em><strong>An Unexpectedly Complex Architecture for Skin Pigmentation in Africans<\/strong><\/em><\/a><\/p>\n<p><a href=\"http:\/\/www.cell.com\/cell\/home\" target=\"_blank\" rel=\"noopener\">Cell<\/a><br \/>\n<a href=\"http:\/\/www.cell.com\/cell\/issue?pii=S0092-8674(16)X0025-6\" target=\"_blank\" rel=\"noopener\">Volume 171, Issue 6, 2017-11-30<\/a><br \/>\npages 1340\u20131353.e14<br \/>\nDOI: <a href=\"http:\/\/dx.doi.org\/10.1016\/j.cell.2017.11.015\" target=\"_blank\" rel=\"noopener\">10.1016\/j.cell.2017.11.015<\/a><\/p>\n<p><a href=\"https:\/\/aliciarmartin.com\/\" target=\"_blank\" rel=\"noopener\"><strong>Alicia R. Martin<\/strong><\/a>, <strong>Meng Lin<\/strong>, <strong>Julie M. Granka<\/strong>, <strong>Justin W. Myrick<\/strong>, <strong>Xiaomin Liu<\/strong>, <strong>Alexandra Sockell<\/strong>, <strong>Elizabeth G. Atkinson<\/strong>, <strong>Cedric J. Werely<\/strong>, <strong>Marlo M\u00f6ller<\/strong>, <strong>Manjinder S. Sandhu<\/strong>, <strong>David M. Kingsley<\/strong>, <strong>Eileen G. Hoal<\/strong>, <strong>Xiao Liu<\/strong>, <a href=\"https:\/\/www.broadinstitute.org\/bios\/mark-daly\" target=\"_blank\" rel=\"noopener\"><strong>Mark J. Daly<\/strong><\/a>, <strong>Marcus W. Feldman<\/strong>, <strong>Christopher R. Gignoux<\/strong>, <strong>Carlos D. Bustamante<\/strong>, <a href=\"http:\/\/www.stonybrook.edu\/commcms\/ecoevo\/people\/faculty_pages\/henn.html\" target=\"_blank\" rel=\"noopener\"><strong>Brenna M. Henn<\/strong><\/a><\/p>\n<p><a href=\"http:\/\/dx.doi.org\/10.1016\/j.cell.2017.11.015\" target=\"_blank\" rel=\"noopener\"><img decoding=\"async\" src=\"http:\/\/www.cell.com\/cms\/attachment\/2116982623\/2085249854\/fx1.jpg\" width=\"450\" \/><\/a><\/p>\n<p><strong>Highlights<\/strong><\/p>\n<ul>\n<li><a href=\"https:\/\/en.wikipedia.org\/wiki\/Human_skin_color\" target=\"_blank\" rel=\"noopener\">Skin pigmentation<\/a> in Africans is far more <a href=\"https:\/\/en.wikipedia.org\/wiki\/Polygene\" target=\"_blank\" rel=\"noopener\">polygenic<\/a> than light skin in Eurasians<\/li>\n<li>Southern African <a href=\"https:\/\/en.wikipedia.org\/wiki\/Khoisan\" target=\"_blank\" rel=\"noopener\">KhoeSan<\/a> populations have lighter skin compared to equatorial Africans<\/li>\n<li>Highly heritable KhoeSan skin color variation is poorly explained by known genes<\/li>\n<li>The study of African skin color identifies novel and canonical pigmentation genes<\/li>\n<\/ul>\n<p>Approximately 15 genes have been directly associated with <a href=\"https:\/\/en.wikipedia.org\/wiki\/Human_skin_color\" target=\"_blank\" rel=\"noopener\">skin pigmentation<\/a> variation in humans, leading to its characterization as a relatively simple trait. However, by assembling a global survey of quantitative skin pigmentation phenotypes, we demonstrate that pigmentation is more complex than previously assumed, with genetic architecture varying by <a href=\"https:\/\/en.wikipedia.org\/wiki\/Latitude\" target=\"_blank\" rel=\"noopener\">latitude<\/a>. We investigate polygenicity in the <a href=\"https:\/\/en.wikipedia.org\/wiki\/Khoisan\" target=\"_blank\" rel=\"noopener\">KhoeSan<\/a> populations indigenous to <a href=\"https:\/\/en.wikipedia.org\/wiki\/Southern_Africa\" target=\"_blank\" rel=\"noopener\">southern Africa<\/a> who have considerably lighter skin than <a href=\"https:\/\/en.wikipedia.org\/wiki\/Equatorial_Africa\" target=\"_blank\" rel=\"noopener\">equatorial Africans<\/a>. We demonstrate that skin pigmentation is highly heritable, but known pigmentation loci explain only a small fraction of the variance. Rather, baseline skin pigmentation is a complex, polygenic trait in the KhoeSan. Despite this, we identify canonical and non-canonical skin pigmentation loci, including near <a href=\"https:\/\/en.wikipedia.org\/wiki\/SLC24A5\" target=\"_blank\" rel=\"noopener\"><em>SLC24A5<\/em><\/a>, <a href=\"https:\/\/en.wikipedia.org\/wiki\/TYRP1\" target=\"_blank\" rel=\"noopener\"><em>TYRP1<\/em><\/a>, <em><a href=\"https:\/\/en.wikipedia.org\/wiki\/SMARCA2\" target=\"_blank\" rel=\"noopener\">SMARCA2<\/a>\/<a href=\"https:\/\/en.wikipedia.org\/wiki\/VLDL_receptor\" target=\"_blank\" rel=\"noopener\">VLDLR<\/a><\/em>, and <a href=\"https:\/\/en.wikipedia.org\/wiki\/SNX13\" target=\"_blank\" rel=\"noopener\"><em>SNX13<\/em><\/a>, using a genome-wide association approach complemented by targeted resequencing. By considering diverse, under-studied African populations, we show how the architecture of skin pigmentation can vary across humans subject to different local evolutionary pressures.<\/p>\n<p>Read or purchase the article <a href=\"http:\/\/www.cell.com\/action\/ecommerce?backUri=\/cell\/fulltext\/S0092-8674(17)31324-7?isAjax=true&amp;offerId=14,10.1016\/j.cell.2017.11.015&amp;addToCart=true\" target=\"_blank\" rel=\"noopener\">here<\/a>.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>By considering diverse, under-studied African populations, we show how the architecture of skin pigmentation can vary across humans subject to different local evolutionary pressures.<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1295,12,2039,8],"tags":[27738,27753,27734,27762,27746,17569,23892,27740,27757,27747,3285,23888,27759,27742,27743,27760,27756,27739,27754,27751,27755,27736,18671,27758,6889,13574,27761,27745,27741,27735,27749,27750,27748,27744,27737],"class_list":["post-55327","post","type-post","status-publish","format-standard","hentry","category-africa","category-articles","category-health-medicine","category-media-archive","tag-alexandra-sockell","tag-alicia-martin","tag-alicia-r-martin","tag-brenna-henn","tag-brenna-m-henn","tag-carlos-bustamante","tag-carlos-d-bustamante","tag-cedric-j-werely","tag-cedric-werely","tag-cell","tag-christopher-gignoux","tag-christopher-r-gignoux","tag-david-kingsley","tag-david-m-kingsley","tag-eileen-g-hoal","tag-eileen-hoal","tag-elizabeth-atkinson","tag-elizabeth-g-atkinson","tag-julie-granka","tag-julie-m-granka","tag-justin-myrick","tag-justin-w-myrick","tag-manjinder-s-sandhu","tag-manjinder-sandhu","tag-marcus-feldman","tag-marcus-w-feldman","tag-mark-daly","tag-mark-j-daly","tag-marlo-moller","tag-meng-lin","tag-pigmentation","tag-skin-color","tag-southern-africa","tag-xiao-liu","tag-xiaomin-liu"],"_links":{"self":[{"href":"https:\/\/mixedracestudies.org\/wp\/index.php?rest_route=\/wp\/v2\/posts\/55327","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/mixedracestudies.org\/wp\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/mixedracestudies.org\/wp\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/mixedracestudies.org\/wp\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/mixedracestudies.org\/wp\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=55327"}],"version-history":[{"count":4,"href":"https:\/\/mixedracestudies.org\/wp\/index.php?rest_route=\/wp\/v2\/posts\/55327\/revisions"}],"predecessor-version":[{"id":55334,"href":"https:\/\/mixedracestudies.org\/wp\/index.php?rest_route=\/wp\/v2\/posts\/55327\/revisions\/55334"}],"wp:attachment":[{"href":"https:\/\/mixedracestudies.org\/wp\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=55327"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/mixedracestudies.org\/wp\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=55327"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/mixedracestudies.org\/wp\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=55327"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}