{"id":3522,"date":"2020-09-16T08:10:55","date_gmt":"2020-09-16T07:10:55","guid":{"rendered":"https:\/\/ibb.uab.cat\/?p=3522"},"modified":"2020-09-16T08:11:37","modified_gmt":"2020-09-16T07:11:37","slug":"genome-integrity-and-instability-whole-genome-sequencing-identifies-allelic-ratio-distortion-in-sperm-involving-genes-related-to-spermatogenesis-in-a-swine-model","status":"publish","type":"post","link":"https:\/\/ibb.uab.cat\/index.php\/2020\/09\/16\/genome-integrity-and-instability-whole-genome-sequencing-identifies-allelic-ratio-distortion-in-sperm-involving-genes-related-to-spermatogenesis-in-a-swine-model\/","title":{"rendered":"Genome Integrity and Instability: “Whole genome sequencing identifies Allelic Ratio Distortion in sperm involving genes related to spermatogenesis in a swine model”"},"content":{"rendered":"

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https:\/\/doi.org\/10.1093\/dnares\/dsaa019<\/a><\/p>\n

 <\/p>\n

Abstract<\/h2>\n
\n

Transmission Ratio Distortion (TRD), the uneven transmission of an allele from a parent to its offspring, can be caused by allelic differences affecting gametogenesis, fertilization or embryogenesis. However, TRD remains vaguely studied at a genomic scale. We sequenced the diploid and haploid genomes of 3 boars from leukocytes and spermatozoa at 50x to shed light into the genetic basis of spermatogenesis-caused Allelic Ratio Distortion (ARD). We first developed a binomial model to identify ARD by simultaneously analysing all three males. This led to the identification of 55 ARD SNPs, most of which were animal-specific. We then evaluated ARD individually within each pig by a Fisher Exact Test and identified 2 shared genes (TOP3A<\/em> and UNC5B<\/em>) and 4 shared genomic regions harbouring distinct ARD SNPs in the 3 boars. The shared genomic regions contained candidate genes with functions related to spermatogenesis including AK7<\/em>, ARID4B<\/em>, BDKRB2<\/em>, GSK3B<\/em>, NID1<\/em>, NSMCE1<\/em>, PALB2<\/em>, VRK1<\/em> and ZC3H13<\/em>. Using the Fisher Test, we also identified 378 genes containing variants with protein damaging potential in at least one boar, a high proportion of which, including FAM120B<\/em>, TDRD15<\/em>, JAM2<\/em> or AOX4<\/em> among others, are associated to spermatogenesis. Overall, our results show that sperm is subjected to ARD with variants associated to a wide variety of genes involved in different stages of spermatogenesis.<\/p>\n<\/section>\n","protected":false},"excerpt":{"rendered":"

https:\/\/doi.org\/10.1093\/dnares\/dsaa019   Abstract Transmission Ratio Distortion (TRD), the uneven transmission of an allele from a parent to its offspring, can be caused by allelic differences affecting gametogenesis, fertilization or embryogenesis. However, TRD remains vaguely studied at a genomic scale. We sequenced the diploid and haploid genomes of 3 boars from leukocytes and spermatozoa at 50x […]<\/p>\n","protected":false},"author":65,"featured_media":3523,"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\/3522"}],"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=3522"}],"version-history":[{"count":2,"href":"https:\/\/ibb.uab.cat\/index.php\/wp-json\/wp\/v2\/posts\/3522\/revisions"}],"predecessor-version":[{"id":3525,"href":"https:\/\/ibb.uab.cat\/index.php\/wp-json\/wp\/v2\/posts\/3522\/revisions\/3525"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ibb.uab.cat\/index.php\/wp-json\/wp\/v2\/media\/3523"}],"wp:attachment":[{"href":"https:\/\/ibb.uab.cat\/index.php\/wp-json\/wp\/v2\/media?parent=3522"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ibb.uab.cat\/index.php\/wp-json\/wp\/v2\/categories?post=3522"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ibb.uab.cat\/index.php\/wp-json\/wp\/v2\/tags?post=3522"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}