{"id":154,"date":"2011-05-28T18:33:24","date_gmt":"2011-05-28T18:33:24","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=154"},"modified":"2011-05-28T18:33:24","modified_gmt":"2011-05-28T18:33:24","slug":"replacement-of-the-myotonic-dystrophy-type-1-ctg-repeat-with-%e2%80%9cnon-ctg-repeat%e2%80%9d-insertions-in-specific-tissues","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2011\/05\/28\/replacement-of-the-myotonic-dystrophy-type-1-ctg-repeat-with-%e2%80%9cnon-ctg-repeat%e2%80%9d-insertions-in-specific-tissues\/","title":{"rendered":"Replacement of the myotonic dystrophy type 1 CTG repeat with \u201cnon-CTG repeat\u201d insertions in specific tissues"},"content":{"rendered":"<p>One of the most mutation-prone sequences is the variable number of repeating DNAs at the myotonic dystrophy (DM1) gene, causing muscular dystrophy.\u00a0 In DM1 individuals the mutant gene has an expansion of a repeated DNA sequence CTG CTG CTG to hundreds or thousands of repeats. \u00a0We report a new kind of mutation at the DM1 region.\u00a0 We found a DM1 individual who, in addition to an expanded repeat, also had the repeat tract completely replaced with a non-repeat DNA sequence from another chromosome.\u00a0 Replacement mutations occurred only skeletal muscle and cerebellar cortex.\u00a0 This non-CTG configuration expands our understanding of the sequence variations that can arise at this hypermutable site. (By Christopher E. Pearson, Ph.D., <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2011\/05\/27\/jmg.2010.085944.abstract?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2011\/05\/27\/jmg.2010.085944.abstract?papetoc<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>One of the most mutation-prone sequences is the variable number of repeating DNAs at the myotonic dystrophy (DM1) gene, causing muscular dystrophy.\u00a0 In DM1 individuals the mutant gene has an expansion of a repeated DNA sequence CTG CTG CTG to hundreds or thousands of repeats. \u00a0We report a new kind of mutation at the DM1 [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2011\/05\/28\/replacement-of-the-myotonic-dystrophy-type-1-ctg-repeat-with-%e2%80%9cnon-ctg-repeat%e2%80%9d-insertions-in-specific-tissues\/\">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-154","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\/154","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=154"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/154\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=154"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=154"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=154"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}