{"id":2487,"date":"2019-09-18T08:08:14","date_gmt":"2019-09-18T07:08:14","guid":{"rendered":"https:\/\/ibb.uab.cat\/?p=2487"},"modified":"2019-09-18T09:32:09","modified_gmt":"2019-09-18T08:32:09","slug":"dr-mario-caceres-evolutionary-and-functional-impact-of-commonpolymorphic-inversions-in-the-human-genome","status":"publish","type":"post","link":"https:\/\/ibb.uab.cat\/index.php\/2019\/09\/18\/dr-mario-caceres-evolutionary-and-functional-impact-of-commonpolymorphic-inversions-in-the-human-genome\/","title":{"rendered":"Dr. Mario Caceres: “Evolutionary and functional impact of common polymorphic inversions in the human genome”"},"content":{"rendered":"

Nature Communications<\/i>\u00a010<\/b>,\u00a0 Article\u00a0number:\u00a04222<\/span>\u00a0(2019<\/span>)<\/p>\n

 <\/p>\n

https:\/\/www.nature.com\/articles\/s41467-019-12173-x.epdf?author_access_token=cVjT1p3din4tGJbNLDyel9RgN0jAjWel9jnR3ZoTv0P-2IqhjSjJ3h8OoQACdg3_2Zs57EgxdseDbCAlUgZO9jSYZMidnZsRJxkAkaIfu2LAxppiY3VN8K2eAt2G6O7iHH_N5qqpM4UMjovqEWHu9A%3D%3D<\/p>\n

Open Access<\/a><\/p>\n

Abstract<\/h2>\n
\n

\"\"Inversions are one type of structural variants linked to phenotypic differences and adaptation<\/span>in multiple organisms. However, there is still very little information about polymorphic<\/span>inversions in the human genome due to the dif<\/span>fi<\/span>culty of their detection. Here, we develop a<\/span>new high-throughput genotyping method based on probe hybridization and ampli<\/span>fi<\/span>cation, and<\/span>we perform a complete study of 45 common human inversions of 0.1<\/span>\u2013<\/span>415 kb. Most inversions<\/span>promoted by homologous recombination occur recurrently in humans and great apes and<\/span>they are not tagged by SNPs. Furthermore, there is an enrichment of inversions showing<\/span>signatures of positive or balancing selection, diverse functional effects, such as gene dis-<\/span>ruption and gene-expression changes, or association with phenotypic traits. Therefore, our<\/span>results indicate that the genome is more dynamic than previously thought and that human<\/span>inversions have important functional and evolutionary consequences, making possible to<\/span>determine for the<\/span>fi<\/span>rst time their contribution to complex traits<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"

Nature Communications\u00a010,\u00a0 Article\u00a0number:\u00a04222\u00a0(2019)   https:\/\/www.nature.com\/articles\/s41467-019-12173-x.epdf?author_access_token=cVjT1p3din4tGJbNLDyel9RgN0jAjWel9jnR3ZoTv0P-2IqhjSjJ3h8OoQACdg3_2Zs57EgxdseDbCAlUgZO9jSYZMidnZsRJxkAkaIfu2LAxppiY3VN8K2eAt2G6O7iHH_N5qqpM4UMjovqEWHu9A%3D%3D Open Access Abstract Inversions are one type of structural variants linked to phenotypic differences and adaptationin multiple organisms. However, there is still very little information about polymorphicinversions in the human genome due to the difficulty of their detection. Here, we develop anew high-throughput genotyping method based on probe hybridization and […]<\/p>\n","protected":false},"author":65,"featured_media":2492,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[4],"tags":[],"_links":{"self":[{"href":"https:\/\/ibb.uab.cat\/index.php\/wp-json\/wp\/v2\/posts\/2487"}],"collection":[{"href":"https:\/\/ibb.uab.cat\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/ibb.uab.cat\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/ibb.uab.cat\/index.php\/wp-json\/wp\/v2\/users\/65"}],"replies":[{"embeddable":true,"href":"https:\/\/ibb.uab.cat\/index.php\/wp-json\/wp\/v2\/comments?post=2487"}],"version-history":[{"count":8,"href":"https:\/\/ibb.uab.cat\/index.php\/wp-json\/wp\/v2\/posts\/2487\/revisions"}],"predecessor-version":[{"id":2498,"href":"https:\/\/ibb.uab.cat\/index.php\/wp-json\/wp\/v2\/posts\/2487\/revisions\/2498"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ibb.uab.cat\/index.php\/wp-json\/wp\/v2\/media\/2492"}],"wp:attachment":[{"href":"https:\/\/ibb.uab.cat\/index.php\/wp-json\/wp\/v2\/media?parent=2487"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ibb.uab.cat\/index.php\/wp-json\/wp\/v2\/categories?post=2487"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ibb.uab.cat\/index.php\/wp-json\/wp\/v2\/tags?post=2487"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}