{"id":1162,"date":"2018-07-24T18:47:55","date_gmt":"2018-07-24T18:47:55","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1162"},"modified":"2026-02-24T15:45:58","modified_gmt":"2026-02-24T15:45:58","slug":"xrcc2-mutation-causes-meiotic-arrest-azoospermia-and-infertility","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2018\/07\/24\/xrcc2-mutation-causes-meiotic-arrest-azoospermia-and-infertility\/","title":{"rendered":"XRCC2 mutation causes meiotic arrest, azoospermia and infertility (Contributed by Dr Yongjia Yang)"},"content":{"rendered":"<p>In most eukaryotes, meiotic homologous recombination (HR) is mediated by two recombinase systems, namely, the ubiquitous RAD51 and meiosis-specific DMC1. In the RAD51-mediated HR system, five paralogs are essential for normal RAD51 function. Meanwhile, given the embryonic lethality of RAD51 or any RAD51 paralog knockouts, the role of RAD51 in mammalian meiosis is unclear.<\/p>\n<p>This study discovered a XRCC2 recessive point mutation leading to meiotic arrest, azoospermia and infertility in human and mice. Given that human and mice with the mutation survive and show no phenotypes other than reproductive defects, we believe that the point mutation is meiosis-specific and then represents an important step for scientists to investigate meiosis HR. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2018\/07\/24\/jmedgenet-2017-105145\">https:\/\/jmg.bmj.com\/content\/early\/2018\/07\/24\/jmedgenet-2017-105145<\/a> )<\/p>\n<p>&nbsp;<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>In most eukaryotes, meiotic homologous recombination (HR) is mediated by two recombinase systems, namely, the ubiquitous RAD51 and meiosis-specific DMC1. In the RAD51-mediated HR system, five paralogs are essential for normal RAD51 function. Meanwhile, given the embryonic lethality of RAD51 or any RAD51 paralog knockouts, the role of RAD51 in mammalian meiosis is unclear. This [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2018\/07\/24\/xrcc2-mutation-causes-meiotic-arrest-azoospermia-and-infertility\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1162","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>XRCC2 mutation causes meiotic arrest, azoospermia and infertility (Contributed by Dr Yongjia Yang) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2018\/07\/24\/xrcc2-mutation-causes-meiotic-arrest-azoospermia-and-infertility\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"XRCC2 mutation causes meiotic arrest, azoospermia and infertility (Contributed by Dr Yongjia Yang) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"In most eukaryotes, meiotic homologous recombination (HR) is mediated by two recombinase systems, namely, the ubiquitous RAD51 and meiosis-specific DMC1. In the RAD51-mediated HR system, five paralogs are essential for normal RAD51 function. Meanwhile, given the embryonic lethality of RAD51 or any RAD51 paralog knockouts, the role of RAD51 in mammalian meiosis is unclear. This [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2018\/07\/24\/xrcc2-mutation-causes-meiotic-arrest-azoospermia-and-infertility\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2018-07-24T18:47:55+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T15:45:58+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/07\\\/24\\\/xrcc2-mutation-causes-meiotic-arrest-azoospermia-and-infertility\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/07\\\/24\\\/xrcc2-mutation-causes-meiotic-arrest-azoospermia-and-infertility\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"XRCC2 mutation causes meiotic arrest, azoospermia and infertility (Contributed by Dr Yongjia Yang)\",\"datePublished\":\"2018-07-24T18:47:55+00:00\",\"dateModified\":\"2026-02-24T15:45:58+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/07\\\/24\\\/xrcc2-mutation-causes-meiotic-arrest-azoospermia-and-infertility\\\/\"},\"wordCount\":133,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/07\\\/24\\\/xrcc2-mutation-causes-meiotic-arrest-azoospermia-and-infertility\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/07\\\/24\\\/xrcc2-mutation-causes-meiotic-arrest-azoospermia-and-infertility\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/07\\\/24\\\/xrcc2-mutation-causes-meiotic-arrest-azoospermia-and-infertility\\\/\",\"name\":\"XRCC2 mutation causes meiotic arrest, azoospermia and infertility (Contributed by Dr Yongjia Yang) - 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His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"XRCC2 mutation causes meiotic arrest, azoospermia and infertility (Contributed by Dr Yongjia Yang) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2018\/07\/24\/xrcc2-mutation-causes-meiotic-arrest-azoospermia-and-infertility\/","og_locale":"en_US","og_type":"article","og_title":"XRCC2 mutation causes meiotic arrest, azoospermia and infertility (Contributed by Dr Yongjia Yang) - JMG Contact blog","og_description":"In most eukaryotes, meiotic homologous recombination (HR) is mediated by two recombinase systems, namely, the ubiquitous RAD51 and meiosis-specific DMC1. 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