{"id":795,"date":"2015-08-21T18:46:14","date_gmt":"2015-08-21T18:46:14","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=795"},"modified":"2026-02-25T00:40:09","modified_gmt":"2026-02-25T00:40:09","slug":"minichromosome-maintenance-complex-component-8-mcm8-gene-mutations-result-in-primary-gonadal-failure","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2015\/08\/21\/minichromosome-maintenance-complex-component-8-mcm8-gene-mutations-result-in-primary-gonadal-failure\/","title":{"rendered":"Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure (Contributed by Dr. Yardena Tenenbaum-Rakover)"},"content":{"rendered":"<p>Primary gonadal failure is characterized by a lack of spontaneous pubertal development, primary amenorrhea or early menopause in females, and underdeveloped testis and azoospermia in males. Its genetic causes remain mostly unknown.<\/p>\n<p>Variants of the minichromosome maintenance complex component 8 gene (MCM8) are significantly associated with early menopause. Mice lacking MCM8 are sterile. We sought to elucidate the genetic etiology of gonadal failure in two consanguineous families: family 1&#8217;s index case presented with primary amenorrhea and her brother had azoospermia; family 2&#8217;s five affected females had primary amenorrhea.<\/p>\n<p>Using whole-exome sequencing, we identified two novel homozygous mutations in MCM8\u2014splice (c.1954-1G&gt;A) and frameshift (c.1469-1470insTA)\u2014that segregated with the disease and were absent in 100 ethnically matched controls. The splice mutation (family 1) led to three different aberrant transcripts and a significant decrease in total MCM8 message. The frameshift mutation (family 2) predicted a premature stop codon. DNA-repair capabilities showed significantly increased chromosomal breakage.<\/p>\n<p>Our findings indicate that MCM8 is crucial for gonadal development and maintenance and suggest its relevance in the larger context of reproductive lifespan in humans. (<a href=\"http:\/\/jmg.bmj.com\/content\/52\/6\/391\">http:\/\/jmg.bmj.com\/content\/52\/6\/391<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/08\/Figure-1.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-796\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/08\/Figure-1-300x286.jpg\" alt=\"Figure 1\" width=\"300\" height=\"286\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/08\/Figure-1-300x286.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2015\/08\/Figure-1-1024x977.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2015\/08\/Figure-1.jpg 1146w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Primary gonadal failure is characterized by a lack of spontaneous pubertal development, primary amenorrhea or early menopause in females, and underdeveloped testis and azoospermia in males. Its genetic causes remain mostly unknown. Variants of the minichromosome maintenance complex component 8 gene (MCM8) are significantly associated with early menopause. Mice lacking MCM8 are sterile. We sought [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2015\/08\/21\/minichromosome-maintenance-complex-component-8-mcm8-gene-mutations-result-in-primary-gonadal-failure\/\">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-795","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>Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure (Contributed by Dr. Yardena Tenenbaum-Rakover) - 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\/2015\/08\/21\/minichromosome-maintenance-complex-component-8-mcm8-gene-mutations-result-in-primary-gonadal-failure\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure (Contributed by Dr. Yardena Tenenbaum-Rakover) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Primary gonadal failure is characterized by a lack of spontaneous pubertal development, primary amenorrhea or early menopause in females, and underdeveloped testis and azoospermia in males. Its genetic causes remain mostly unknown. Variants of the minichromosome maintenance complex component 8 gene (MCM8) are significantly associated with early menopause. Mice lacking MCM8 are sterile. We sought [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2015\/08\/21\/minichromosome-maintenance-complex-component-8-mcm8-gene-mutations-result-in-primary-gonadal-failure\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2015-08-21T18:46:14+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T00:40:09+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/08\/Figure-1.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1146\" \/>\n\t<meta property=\"og:image:height\" content=\"1093\" \/>\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\\\/2015\\\/08\\\/21\\\/minichromosome-maintenance-complex-component-8-mcm8-gene-mutations-result-in-primary-gonadal-failure\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/08\\\/21\\\/minichromosome-maintenance-complex-component-8-mcm8-gene-mutations-result-in-primary-gonadal-failure\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure (Contributed by Dr. Yardena Tenenbaum-Rakover)\",\"datePublished\":\"2015-08-21T18:46:14+00:00\",\"dateModified\":\"2026-02-25T00:40:09+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/08\\\/21\\\/minichromosome-maintenance-complex-component-8-mcm8-gene-mutations-result-in-primary-gonadal-failure\\\/\"},\"wordCount\":202,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/08\\\/21\\\/minichromosome-maintenance-complex-component-8-mcm8-gene-mutations-result-in-primary-gonadal-failure\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2015\\\/08\\\/Figure-1-300x286.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/08\\\/21\\\/minichromosome-maintenance-complex-component-8-mcm8-gene-mutations-result-in-primary-gonadal-failure\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/08\\\/21\\\/minichromosome-maintenance-complex-component-8-mcm8-gene-mutations-result-in-primary-gonadal-failure\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/08\\\/21\\\/minichromosome-maintenance-complex-component-8-mcm8-gene-mutations-result-in-primary-gonadal-failure\\\/\",\"name\":\"Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure (Contributed by Dr. Yardena Tenenbaum-Rakover) - 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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":"Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure (Contributed by Dr. Yardena Tenenbaum-Rakover) - 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\/2015\/08\/21\/minichromosome-maintenance-complex-component-8-mcm8-gene-mutations-result-in-primary-gonadal-failure\/","og_locale":"en_US","og_type":"article","og_title":"Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure (Contributed by Dr. Yardena Tenenbaum-Rakover) - JMG Contact blog","og_description":"Primary gonadal failure is characterized by a lack of spontaneous pubertal development, primary amenorrhea or early menopause in females, and underdeveloped testis and azoospermia in males. 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