{"id":1241,"date":"2019-03-14T13:37:29","date_gmt":"2019-03-14T13:37:29","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1241"},"modified":"2026-02-24T00:48:11","modified_gmt":"2026-02-24T00:48:11","slug":"naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/14\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\/","title":{"rendered":"NAA10 polyadenylation signal variants cause syndromic microphthalmia (Contributed by Dr Jennifer J Johnston)"},"content":{"rendered":"

Polyadenylation signals direct the cleavage and polyadenylation of messenger RNA (mRNA). While it is known that polyadenylation is an important process for mRNA stability and function few polyadenylation signal variants have been identified as causative for human disease. Here we identify three distinct, novel variants in the polyadenylation signal of the NAA10<\/em> gene in three families with X-linked syndromic microphthalmia\/anophthalmia. Functional studies suggest polyadenylation variants in NAA10<\/em> lead to partial loss of function due to reduced mRNA levels and we hypothesize that yet to be identified polyadenylation variants play a role in other human diseases that result from partial loss of function. Development of tools to detect, interrogate, and interpret polyadenylation signals will allow this work to yield benefits for the diagnosis of patients with other genetic disorders and contribute to the overall improvement in clinical genomic sequencing diagnostic yield. (https:\/\/jmg.bmj.com\/content\/early\/2019\/03\/06\/jmedgenet-2018-105836<\/a>)<\/p>\n","protected":false},"excerpt":{"rendered":"

Polyadenylation signals direct the cleavage and polyadenylation of messenger RNA (mRNA). While it is known that polyadenylation is an important process for mRNA stability and function few polyadenylation signal variants have been identified as causative for human disease. Here we identify three distinct, novel variants in the polyadenylation signal of the NAA10 gene in three […]<\/p>\n

Read More…<\/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-1241","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nNAA10 polyadenylation signal variants cause syndromic microphthalmia (Contributed by Dr Jennifer J Johnston) - 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\/03\/14\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"NAA10 polyadenylation signal variants cause syndromic microphthalmia (Contributed by Dr Jennifer J Johnston) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Polyadenylation signals direct the cleavage and polyadenylation of messenger RNA (mRNA). While it is known that polyadenylation is an important process for mRNA stability and function few polyadenylation signal variants have been identified as causative for human disease. Here we identify three distinct, novel variants in the polyadenylation signal of the NAA10 gene in three [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/14\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2019-03-14T13:37:29+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:48:11+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\\\/2019\\\/03\\\/14\\\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/14\\\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"NAA10 polyadenylation signal variants cause syndromic microphthalmia (Contributed by Dr Jennifer J Johnston)\",\"datePublished\":\"2019-03-14T13:37:29+00:00\",\"dateModified\":\"2026-02-24T00:48:11+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/14\\\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\\\/\"},\"wordCount\":162,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/14\\\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/14\\\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/14\\\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\\\/\",\"name\":\"NAA10 polyadenylation signal variants cause syndromic microphthalmia (Contributed by Dr Jennifer J Johnston) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2019-03-14T13:37:29+00:00\",\"dateModified\":\"2026-02-24T00:48:11+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/14\\\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/14\\\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/14\\\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"NAA10 polyadenylation signal variants cause syndromic microphthalmia (Contributed by Dr Jennifer J Johnston)\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"name\":\"JMG Contact blog\",\"description\":\"JMG Contact blog\",\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\",\"name\":\"JMG Contact blog\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"width\":300,\"height\":34,\"caption\":\"JMG Contact blog\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\",\"name\":\"hqqu\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"caption\":\"hqqu\"},\"description\":\"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). 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":"NAA10 polyadenylation signal variants cause syndromic microphthalmia (Contributed by Dr Jennifer J Johnston) - 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\/2019\/03\/14\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\/","og_locale":"en_US","og_type":"article","og_title":"NAA10 polyadenylation signal variants cause syndromic microphthalmia (Contributed by Dr Jennifer J Johnston) - JMG Contact blog","og_description":"Polyadenylation signals direct the cleavage and polyadenylation of messenger RNA (mRNA). While it is known that polyadenylation is an important process for mRNA stability and function few polyadenylation signal variants have been identified as causative for human disease. Here we identify three distinct, novel variants in the polyadenylation signal of the NAA10 gene in three [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/14\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\/","og_site_name":"JMG Contact blog","article_published_time":"2019-03-14T13:37:29+00:00","article_modified_time":"2026-02-24T00:48:11+00:00","author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/14\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/14\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"NAA10 polyadenylation signal variants cause syndromic microphthalmia (Contributed by Dr Jennifer J Johnston)","datePublished":"2019-03-14T13:37:29+00:00","dateModified":"2026-02-24T00:48:11+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/14\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\/"},"wordCount":162,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2019\/03\/14\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/14\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\/","url":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/14\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\/","name":"NAA10 polyadenylation signal variants cause syndromic microphthalmia (Contributed by Dr Jennifer J Johnston) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2019-03-14T13:37:29+00:00","dateModified":"2026-02-24T00:48:11+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/14\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2019\/03\/14\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/14\/naa10-polyadenylation-signal-variants-cause-syndromic-microphthalmia\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"NAA10 polyadenylation signal variants cause syndromic microphthalmia (Contributed by Dr Jennifer J Johnston)"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). 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\/"}]}},"_links":{"self":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1241","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/123"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=1241"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1241\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=1241"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=1241"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=1241"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}