{"id":178,"date":"2011-06-21T18:56:45","date_gmt":"2011-06-21T18:56:45","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=178"},"modified":"2011-06-21T18:56:45","modified_gmt":"2011-06-21T18:56:45","slug":"efficiency-of-translation-termination-in-humans-is-highly-dependent-upon-nucleotides-in-the-neighbourhood-of-a-premature-termination-codon","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2011\/06\/21\/efficiency-of-translation-termination-in-humans-is-highly-dependent-upon-nucleotides-in-the-neighbourhood-of-a-premature-termination-codon\/","title":{"rendered":"Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon"},"content":{"rendered":"<p>Junctional epidermolysis bullosa, a congenital disease\u00a0characterized by widespread skin blistering,\u00a0chronic wounds,\u00a0loss of fluid and proteins, and severe infections, is caused by mutations in the\u00a0genes <em>LAMA3<\/em>, <em>LAMB3 <\/em>and <em>LAMC2<\/em>. Individuals with mutations creating a premature termination codon (PTC) on both alleles of the respective gene usually die in infancy. In a patient carrying\u00a0such\u00a0a pair of PTC mutations in the gene <em>LAMA3<\/em>, we observed\u00a0surprising clinical and molecular rescue due to spontaneous\u00a0read-through of\u00a0one of the\u00a0mutations. The genetic context of this naturally occurring\u00a0PTC mutation is close to a hypothetical consensus sequence for maximum\u00a0termination codon read-through.\u00a0Our findings provide clues for the prediction of PTC read-through in human genetic disease.\u00a0 (By Dr Holm Schneider, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2011\/06\/21\/jmg.2011.089615.abstract?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2011\/06\/21\/jmg.2011.089615.abstract?papetoc<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Junctional epidermolysis bullosa, a congenital disease\u00a0characterized by widespread skin blistering,\u00a0chronic wounds,\u00a0loss of fluid and proteins, and severe infections, is caused by mutations in the\u00a0genes LAMA3, LAMB3 and LAMC2. Individuals with mutations creating a premature termination codon (PTC) on both alleles of the respective gene usually die in infancy. In a patient carrying\u00a0such\u00a0a pair of PTC [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2011\/06\/21\/efficiency-of-translation-termination-in-humans-is-highly-dependent-upon-nucleotides-in-the-neighbourhood-of-a-premature-termination-codon\/\">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-178","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\/178","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=178"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/178\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=178"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=178"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=178"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}