{"id":2133,"date":"2025-12-19T15:56:17","date_gmt":"2025-12-19T15:56:17","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2133"},"modified":"2026-02-22T00:13:19","modified_gmt":"2026-02-22T00:13:19","slug":"haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/12\/19\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\/","title":{"rendered":"Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion (Contributed by Dr. Alistair T Pagnamenta)"},"content":{"rendered":"

Genomic inversions occur when a stretch of DNA flips over, reversing its orientation. The absence of copy-number change can make these variants hard to spot. In this commentary, Pagnamenta and colleagues examine an inversion recently reported by Janot et al. in a gene linked to disorders of sexual development. They show it can be detected by genome sequencing, or indirectly via a nearby tagging variant when structural-variant calling is limited, and that it is carried by about 1 in 70,000 people in the UK. By measuring how much identical DNA still borders the inverted segment, they estimate its origin at roughly 2,000 years ago, likely representing an African founder mutation. (https:\/\/jmg.bmj.com\/content\/early\/2025\/12\/17\/jmg-2025-111258<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Genomic inversions occur when a stretch of DNA flips over, reversing its orientation. The absence of copy-number change can make these variants hard to spot. In this commentary, Pagnamenta and colleagues examine an inversion recently reported by Janot et al. in a gene linked to disorders of sexual development. They show it can be detected […]<\/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-2133","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nHaplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion (Contributed by Dr. Alistair T Pagnamenta) - 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\/2025\/12\/19\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion (Contributed by Dr. Alistair T Pagnamenta) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Genomic inversions occur when a stretch of DNA flips over, reversing its orientation. The absence of copy-number change can make these variants hard to spot. In this commentary, Pagnamenta and colleagues examine an inversion recently reported by Janot et al. in a gene linked to disorders of sexual development. They show it can be detected [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2025\/12\/19\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2025-12-19T15:56:17+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T00:13:19+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\\\/2025\\\/12\\\/19\\\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/12\\\/19\\\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion (Contributed by Dr. Alistair T Pagnamenta)\",\"datePublished\":\"2025-12-19T15:56:17+00:00\",\"dateModified\":\"2026-02-22T00:13:19+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/12\\\/19\\\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\\\/\"},\"wordCount\":141,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/12\\\/19\\\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/12\\\/19\\\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/12\\\/19\\\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\\\/\",\"name\":\"Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion (Contributed by Dr. Alistair T Pagnamenta) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2025-12-19T15:56:17+00:00\",\"dateModified\":\"2026-02-22T00:13:19+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/12\\\/19\\\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/12\\\/19\\\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/12\\\/19\\\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion (Contributed by Dr. Alistair T Pagnamenta)\"}]},{\"@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":"Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion (Contributed by Dr. Alistair T Pagnamenta) - 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\/2025\/12\/19\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\/","og_locale":"en_US","og_type":"article","og_title":"Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion (Contributed by Dr. Alistair T Pagnamenta) - JMG Contact blog","og_description":"Genomic inversions occur when a stretch of DNA flips over, reversing its orientation. The absence of copy-number change can make these variants hard to spot. In this commentary, Pagnamenta and colleagues examine an inversion recently reported by Janot et al. in a gene linked to disorders of sexual development. They show it can be detected [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2025\/12\/19\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\/","og_site_name":"JMG Contact blog","article_published_time":"2025-12-19T15:56:17+00:00","article_modified_time":"2026-02-22T00:13:19+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\/2025\/12\/19\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2025\/12\/19\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion (Contributed by Dr. Alistair T Pagnamenta)","datePublished":"2025-12-19T15:56:17+00:00","dateModified":"2026-02-22T00:13:19+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2025\/12\/19\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\/"},"wordCount":141,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2025\/12\/19\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2025\/12\/19\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\/","url":"https:\/\/blogs.bmj.com\/jmg\/2025\/12\/19\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\/","name":"Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion (Contributed by Dr. Alistair T Pagnamenta) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2025-12-19T15:56:17+00:00","dateModified":"2026-02-22T00:13:19+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2025\/12\/19\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2025\/12\/19\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2025\/12\/19\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion (Contributed by Dr. Alistair T Pagnamenta)"}]},{"@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\/2133","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=2133"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/2133\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=2133"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=2133"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=2133"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}