{"id":896,"date":"2016-06-06T18:57:05","date_gmt":"2016-06-06T18:57:05","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=896"},"modified":"2026-02-25T00:05:54","modified_gmt":"2026-02-25T00:05:54","slug":"mutations-in-tubb8-cause-a-multiplicity-of-phenotypes-in-human-oocytes-and-early-embryos","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2016\/06\/06\/mutations-in-tubb8-cause-a-multiplicity-of-phenotypes-in-human-oocytes-and-early-embryos\/","title":{"rendered":"Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos (Contributed by Dr. Lei Wang)"},"content":{"rendered":"<p>An essential feature of successful mammalian reproduction is the fusion of a sperm with a mature oocyte. We previously found that heterozygous mutations in <em>TUBB8<\/em> caused oocyte maturation arrest. In this study, we identified novel heterozygous and homozygous mutations in <em>TUBB8<\/em> that cause variability in the corresponding phenotypes of human oocytes and early embryos. For example, oocyte with some mutations can exclude the first polar body and be fertilized, although the ensuing embryos became developmentally arrested. Our data substantially expand the range of dysfunctional oocyte phenotypes incurred by mutation in <em>TUBB8<\/em>, extend the class of genetic diseases known as the tubulinopathies, and provide new criteria for the qualitative evaluation of MII oocytes for IVF. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/06\/06\/jmedgenet-2016-103891\">http:\/\/jmg.bmj.com\/content\/early\/2016\/06\/06\/jmedgenet-2016-103891<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/06\/phenotypes.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-897\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/06\/phenotypes-300x225.jpg\" alt=\"phenotypes\" width=\"300\" height=\"225\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/06\/phenotypes-300x225.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2016\/06\/phenotypes-768x576.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2016\/06\/phenotypes-1024x768.jpg 1024w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>An essential feature of successful mammalian reproduction is the fusion of a sperm with a mature oocyte. We previously found that heterozygous mutations in TUBB8 caused oocyte maturation arrest. In this study, we identified novel heterozygous and homozygous mutations in TUBB8 that cause variability in the corresponding phenotypes of human oocytes and early embryos. For [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2016\/06\/06\/mutations-in-tubb8-cause-a-multiplicity-of-phenotypes-in-human-oocytes-and-early-embryos\/\">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-896","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>Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos (Contributed by Dr. Lei Wang) - 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\/2016\/06\/06\/mutations-in-tubb8-cause-a-multiplicity-of-phenotypes-in-human-oocytes-and-early-embryos\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos (Contributed by Dr. Lei Wang) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"An essential feature of successful mammalian reproduction is the fusion of a sperm with a mature oocyte. We previously found that heterozygous mutations in TUBB8 caused oocyte maturation arrest. In this study, we identified novel heterozygous and homozygous mutations in TUBB8 that cause variability in the corresponding phenotypes of human oocytes and early embryos. For [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2016\/06\/06\/mutations-in-tubb8-cause-a-multiplicity-of-phenotypes-in-human-oocytes-and-early-embryos\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2016-06-06T18:57:05+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T00:05:54+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/06\/phenotypes.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"3000\" \/>\n\t<meta property=\"og:image:height\" content=\"2250\" \/>\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\\\/2016\\\/06\\\/06\\\/mutations-in-tubb8-cause-a-multiplicity-of-phenotypes-in-human-oocytes-and-early-embryos\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/06\\\/06\\\/mutations-in-tubb8-cause-a-multiplicity-of-phenotypes-in-human-oocytes-and-early-embryos\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos (Contributed by Dr. Lei Wang)\",\"datePublished\":\"2016-06-06T18:57:05+00:00\",\"dateModified\":\"2026-02-25T00:05:54+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/06\\\/06\\\/mutations-in-tubb8-cause-a-multiplicity-of-phenotypes-in-human-oocytes-and-early-embryos\\\/\"},\"wordCount\":141,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/06\\\/06\\\/mutations-in-tubb8-cause-a-multiplicity-of-phenotypes-in-human-oocytes-and-early-embryos\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2016\\\/06\\\/phenotypes-300x225.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/06\\\/06\\\/mutations-in-tubb8-cause-a-multiplicity-of-phenotypes-in-human-oocytes-and-early-embryos\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/06\\\/06\\\/mutations-in-tubb8-cause-a-multiplicity-of-phenotypes-in-human-oocytes-and-early-embryos\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/06\\\/06\\\/mutations-in-tubb8-cause-a-multiplicity-of-phenotypes-in-human-oocytes-and-early-embryos\\\/\",\"name\":\"Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos (Contributed by Dr. Lei Wang) - 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