{"id":1285,"date":"2019-05-08T13:50:28","date_gmt":"2019-05-08T13:50:28","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1285"},"modified":"2026-02-24T00:39:13","modified_gmt":"2026-02-24T00:39:13","slug":"homozygous-mutations-in-spef2-induce-multiple-morphological-abnormalities-of-the-sperm-flagella-and-male-infertility","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/05\/08\/homozygous-mutations-in-spef2-induce-multiple-morphological-abnormalities-of-the-sperm-flagella-and-male-infertility\/","title":{"rendered":"Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility (Contributed by Dr. Feng Zhang)"},"content":{"rendered":"<p>Male infertility due to multiple morphological abnormalities of the sperm flagella (MMAF) is a genetically heterogeneous disorder. Previous studies revealed several MMAF-associated genes, which account for approximately 60% of human MMAF cases. The pathogenic mechanisms of MMAF remain to be illuminated. In this study, we identified <em>SPEF2<\/em> as a novel gene for human MMAF across the populations. The functional assays further demonstrated the pathogenicity of <em>SPEF2<\/em> mutations and the involvement of SPEF2 in human MMAF. Our findings revealed a new human MMAF-associated gene, which will be informative in the molecular diagnosis and genetic counseling of infertile men with oligoasthenoteratozoospermia. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2019\/05\/02\/jmedgenet-2019-106011\">https:\/\/jmg.bmj.com\/content\/early\/2019\/05\/02\/jmedgenet-2019-106011<\/a>)<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/05\/08\/homozygous-mutations-in-spef2-induce-multiple-morphological-abnormalities-of-the-sperm-flagella-and-male-infertility\/fig2_zf0306p\/\" rel=\"attachment wp-att-1286\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1286\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/05\/Fig2_zf0306p-300x300.jpg\" alt=\"\" width=\"300\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/05\/Fig2_zf0306p-300x300.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/05\/Fig2_zf0306p-150x150.jpg 150w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/05\/Fig2_zf0306p-768x771.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/05\/Fig2_zf0306p-1020x1024.jpg 1020w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/05\/Fig2_zf0306p-640x642.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/05\/Fig2_zf0306p-250x250.jpg 250w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Male infertility due to multiple morphological abnormalities of the sperm flagella (MMAF) is a genetically heterogeneous disorder. Previous studies revealed several MMAF-associated genes, which account for approximately 60% of human MMAF cases. The pathogenic mechanisms of MMAF remain to be illuminated. In this study, we identified SPEF2 as a novel gene for human MMAF across [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/05\/08\/homozygous-mutations-in-spef2-induce-multiple-morphological-abnormalities-of-the-sperm-flagella-and-male-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-1285","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility (Contributed by Dr. Feng Zhang) - 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\/2019\/05\/08\/homozygous-mutations-in-spef2-induce-multiple-morphological-abnormalities-of-the-sperm-flagella-and-male-infertility\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility (Contributed by Dr. Feng Zhang) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Male infertility due to multiple morphological abnormalities of the sperm flagella (MMAF) is a genetically heterogeneous disorder. Previous studies revealed several MMAF-associated genes, which account for approximately 60% of human MMAF cases. The pathogenic mechanisms of MMAF remain to be illuminated. In this study, we identified SPEF2 as a novel gene for human MMAF across [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2019\/05\/08\/homozygous-mutations-in-spef2-induce-multiple-morphological-abnormalities-of-the-sperm-flagella-and-male-infertility\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2019-05-08T13:50:28+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:39:13+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/05\/Fig2_zf0306p.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2524\" \/>\n\t<meta property=\"og:image:height\" content=\"2533\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/2019\\\/05\\\/08\\\/homozygous-mutations-in-spef2-induce-multiple-morphological-abnormalities-of-the-sperm-flagella-and-male-infertility\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/05\\\/08\\\/homozygous-mutations-in-spef2-induce-multiple-morphological-abnormalities-of-the-sperm-flagella-and-male-infertility\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility (Contributed by Dr. Feng Zhang)\",\"datePublished\":\"2019-05-08T13:50:28+00:00\",\"dateModified\":\"2026-02-24T00:39:13+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/05\\\/08\\\/homozygous-mutations-in-spef2-induce-multiple-morphological-abnormalities-of-the-sperm-flagella-and-male-infertility\\\/\"},\"wordCount\":126,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/05\\\/08\\\/homozygous-mutations-in-spef2-induce-multiple-morphological-abnormalities-of-the-sperm-flagella-and-male-infertility\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/05\\\/Fig2_zf0306p-300x300.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/05\\\/08\\\/homozygous-mutations-in-spef2-induce-multiple-morphological-abnormalities-of-the-sperm-flagella-and-male-infertility\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/05\\\/08\\\/homozygous-mutations-in-spef2-induce-multiple-morphological-abnormalities-of-the-sperm-flagella-and-male-infertility\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/05\\\/08\\\/homozygous-mutations-in-spef2-induce-multiple-morphological-abnormalities-of-the-sperm-flagella-and-male-infertility\\\/\",\"name\":\"Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility (Contributed by Dr. Feng Zhang) - 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