{"id":632,"date":"2014-01-29T18:51:12","date_gmt":"2014-01-29T18:51:12","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=632"},"modified":"2026-02-25T19:50:54","modified_gmt":"2026-02-25T19:50:54","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:\/\/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 (Contributed by Dr. Hana Lango Allen)"},"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. (<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:\/\/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":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-632","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>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 (Contributed by Dr. Hana Lango Allen) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/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\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"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 (Contributed by Dr. Hana Lango Allen) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"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 [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/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\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2014-01-29T18:51:12+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T19:50:54+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/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\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/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\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"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 (Contributed by Dr. Hana Lango Allen)\",\"datePublished\":\"2014-01-29T18:51:12+00:00\",\"dateModified\":\"2026-02-25T19:50:54+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/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\\\/\"},\"wordCount\":145,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/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\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/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\\\/\",\"url\":\"https:\\\/\\\/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\\\/\",\"name\":\"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 (Contributed by Dr. Hana Lango Allen) - 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