{"id":632,"date":"2014-01-29T18:51:12","date_gmt":"2014-01-29T18:51:12","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=632"},"modified":"2014-01-29T18:51:12","modified_gmt":"2014-01-29T18:51:12","slug":"next-generation-sequencing-of-chromosomal-rearrangements-in-patients-with-split-handsplit-foot-malformation-provides-evidence-for-dync1i1-exonic-enhancers-of-dlx56-expression-in-humans","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2014\/01\/29\/next-generation-sequencing-of-chromosomal-rearrangements-in-patients-with-split-handsplit-foot-malformation-provides-evidence-for-dync1i1-exonic-enhancers-of-dlx56-expression-in-humans\/","title":{"rendered":"Next generation sequencing of chromosomal rearrangements in patients with split-hand\/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5\/6 expression in humans"},"content":{"rendered":"<p>Lango-Allen and colleagues studied two families with split hand\/split foot malformation and looked for causal mutations using new genome-wide sequencing technology. In one family they identified a deletion that included specific protein-coding regions of DYNC1I1 gene, recently shown to regulate DLX5\/6 genes in the developing mouse and zebrafish limbs. In the second family there was a physical separation of DYNC1I1 and DLX5\/6 genes. Together these results support the role of DYNC1I1 protein-coding regions as regulators of far-away target genes DLX5\/6 in human limb development. The study illustrates the application of whole genome sequencing technology for identifying and characterizing chromosomal rearrangements at high resolution. (By Dr. Hana Lango Allen, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2014\/01\/23\/jmedgenet-2013-102142\">http:\/\/jmg.bmj.com\/content\/early\/2014\/01\/23\/jmedgenet-2013-102142<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Lango-Allen and colleagues studied two families with split hand\/split foot malformation and looked for causal mutations using new genome-wide sequencing technology. In one family they identified a deletion that included specific protein-coding regions of DYNC1I1 gene, recently shown to regulate DLX5\/6 genes in the developing mouse and zebrafish limbs. In the second family there was [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2014\/01\/29\/next-generation-sequencing-of-chromosomal-rearrangements-in-patients-with-split-handsplit-foot-malformation-provides-evidence-for-dync1i1-exonic-enhancers-of-dlx56-expression-in-humans\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-632","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/632","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=632"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/632\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=632"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=632"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=632"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}