In the first study to run a genome-wide analysis of Short Tandem Repeats (STRs) in gene expression, a large team of computational geneticists led by investigators from Columbia Engineering and the New York Genome Center have shown that STRs, thought to be just neutral, or ‘junk,’ actually play an important role in regulating gene expression.<\/p>\n
\u201cOur work expands the repertoire of functional genetic elements,\u201d says the study\u2019s leader Yaniv Erlich, who is an assistant professor of computer science at Columbia Engineering, a member of Columbia\u2019s Data Science Institute, and a core member of the New York Genome Center. \u201cWe expect our findings will lead to a better understanding of disease mechanisms and perhaps eventually help to identify new drug targets.\u201d<\/p>\n
Genomic variants are what makes our DNA different from each other, and come,
\nErlich explains, \u201clike spelling errors in different flavours.\u201d The most common
\nvariants are SNPs (single nucleotide polymorphisms). Computational geneticists
\nhave been focused mostly on SNPs that look like a single letter typo\u2014mother vs.
\nmuther\u2014and their effect on complex human traits.<\/p>\n
Erlich\u2019s study looked at Short Tandem Repeats (STRs), variants that create what
\nlook like typos: stutter vs. stututututututter. Most researchers, assuming that
\nSTRs were neutral, dismissed them as not important. In addition, these variants
\nare extremely hard to study. \u201cThey look so different to analysis algorithms,\u201d Erlich notes, \u201cthat they just usually classify them as noise and skip these positions.\u201d<\/p>\n
Erlich used a multitude of statistical genetic and integrative genomics analyses to
\nreveal that STRs have a function: they act like springs or knobs that can expand
\nand contract, and fine-tune the nearby gene expression. Different lengths
\ncorrespond to different tensions of the spring and can control gene expression and disease traits. He is calling these variants eSTRs, or expression STRs, to note that they regulate gene expression. He and his team also discovered that these eSTRs can be associated with a range of conditions including Crohn’s diseases, high blood pressure, and a range of metabolites. These eSTRs explain on average 10 to 15% the genetic differences of gene expression between individuals.
\n\u201cWe\u2019ve known that STRs are known to play a role in these diseases, but no one has ever conducted a genome-wide scan to find their effect on complex traits,\u201d Erlich adds. \u201cIf we want to do personalized medicine, we really need to understand every part of the genome, including repeat elements\u2014there\u2019s a lot of exciting biologyahead.\u201d\nNew York Genome Centre<\/link>\n","protected":false},"excerpt":{"rendered":"
In the first study to run a genome-wide analysis of Short Tandem Repeats (STRs) in gene expression, a large team of computational geneticists led by investigators from Columbia Engineering and the New York Genome Center have shown that STRs, thought to be just neutral, or ‘junk,’ actually play an important role in regulating gene expression. […]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"categories":[35],"tags":[],"class_list":["post-1279","post","type-post","status-publish","format-standard","hentry","category-e-news"],"_links":{"self":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1279"}],"collection":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/comments?post=1279"}],"version-history":[{"count":0,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1279\/revisions"}],"wp:attachment":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/media?parent=1279"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/categories?post=1279"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/tags?post=1279"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}