{"id":1936,"date":"2024-02-11T16:00:30","date_gmt":"2024-02-11T16:00:30","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1936"},"modified":"2026-02-22T23:23:25","modified_gmt":"2026-02-22T23:23:25","slug":"bi-allelic-variants-in-chromatoid-body-protein-tdrd6-cause-spermiogenesis-defects-and-severe-oligoasthenoteratozoospermia-in-humans","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2024\/02\/11\/bi-allelic-variants-in-chromatoid-body-protein-tdrd6-cause-spermiogenesis-defects-and-severe-oligoasthenoteratozoospermia-in-humans\/","title":{"rendered":"Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans (Contributed by Dr. Rui Guo)"},"content":{"rendered":"<p>TDRD6 (Tudor domain-containing 6), plays a crucial role in spermiogenesis and male infertility by maintaining the structural integrity of chromatoid bodies (CBs) and regulating post-meiotic gene expression in mice. However, the association between the <em>TDRD6 <\/em>variants and human infertility remains unclear due to limited sample size. We reported bi-allelic <em>TDRD6 <\/em>variants in five unrelated Chinese individuals with oligoasthenoteratozoospermia (OAT), including homozygous loss-of-function variants in two consanguineous families. Through single-cell RNA-seq analysis, our findings reveal that TDRD6 regulates mRNA metabolism processes, particularly involved in spermatid differentiation and translation. Our study confirms the causal relationship between <em>TDRD6<\/em> variants and human OAT while shedding light on the poor ICSI outcomes in individuals harboring bi-allelic <em>TDRD6<\/em> variants, thereby providing insights for potential clinical treatment strategies. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2024\/02\/09\/jmg-2023-109766\">https:\/\/jmg.bmj.com\/content\/early\/2024\/02\/09\/jmg-2023-109766<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/02\/11\/bi-allelic-variants-in-chromatoid-body-protein-tdrd6-cause-spermiogenesis-defects-and-severe-oligoasthenoteratozoospermia-in-humans\/tdrd6-picture-1\/\" rel=\"attachment wp-att-1937\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1937\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/02\/TDRD6-Picture-1-300x211.png\" alt=\"\" width=\"300\" height=\"211\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/02\/TDRD6-Picture-1-300x211.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/02\/TDRD6-Picture-1-1024x722.png 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/02\/TDRD6-Picture-1-768x541.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/02\/TDRD6-Picture-1-1536x1082.png 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/02\/TDRD6-Picture-1-2048x1443.png 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/02\/TDRD6-Picture-1-640x451.png 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>TDRD6 (Tudor domain-containing 6), plays a crucial role in spermiogenesis and male infertility by maintaining the structural integrity of chromatoid bodies (CBs) and regulating post-meiotic gene expression in mice. However, the association between the TDRD6 variants and human infertility remains unclear due to limited sample size. We reported bi-allelic TDRD6 variants in five unrelated Chinese [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/02\/11\/bi-allelic-variants-in-chromatoid-body-protein-tdrd6-cause-spermiogenesis-defects-and-severe-oligoasthenoteratozoospermia-in-humans\/\">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-1936","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans (Contributed by Dr. Rui Guo) - 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\/2024\/02\/11\/bi-allelic-variants-in-chromatoid-body-protein-tdrd6-cause-spermiogenesis-defects-and-severe-oligoasthenoteratozoospermia-in-humans\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans (Contributed by Dr. Rui Guo) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"TDRD6 (Tudor domain-containing 6), plays a crucial role in spermiogenesis and male infertility by maintaining the structural integrity of chromatoid bodies (CBs) and regulating post-meiotic gene expression in mice. However, the association between the TDRD6 variants and human infertility remains unclear due to limited sample size. 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