{"id":68223,"date":"2024-05-28T14:29:23","date_gmt":"2024-05-28T12:29:23","guid":{"rendered":"https:\/\/www.embl.org\/news\/?p=68223"},"modified":"2024-05-28T14:29:30","modified_gmt":"2024-05-28T12:29:30","slug":"genetic-mosaicism-more-common-than-thought","status":"publish","type":"post","link":"https:\/\/www.embl.org\/news\/science-technology\/genetic-mosaicism-more-common-than-thought\/","title":{"rendered":"Genetic mosaicism more common than thought"},"content":{"rendered":"\n<article class=\"vf-card vf-card--brand vf-card--bordered vf-u-margin__bottom--800\" default>\n  <div class=\"vf-card__content | vf-stack vf-stack--400\">\n      <h3 class=\"vf-card__heading\">\n      Summary    <\/h3>\n                <p class=\"vf-card__text\"><ul>\r\n \t<li>Researchers at EMBL and the MDC-BIMSB found that approximately one in 40 human bone marrow cells carry massive chromosomal alterations without causing any apparent disease or abnormality.<\/li>\r\n \t<li>Even so-called normal cells carry all sorts of genetic mutations, meaning there are more genetic differences between individual cells in our bodies than between different human beings.<\/li>\r\n \t<li>The discovery was enabled by a single-cell sequencing technology called Strand-seq, a unique DNA sequencing technique that can reveal subtle details of genomes in single cells that are too difficult to detect with other methods.<\/li>\r\n<\/ul><\/p>\n      <\/div>\n<\/article>\n\n\n\n\n<p><em>By Gunjan Sinha, Max Delbr\u00fcck Center<\/em><\/p>\n\n\n\n<p>In a study led by <a href=\"https:\/\/www.embl.org\/groups\/korbel\/\">Jan Korbel<\/a> at the European Molecular Biology Laboratory (EMBL) and <a href=\"https:\/\/www.mdc-berlin.de\/sanders\">Ashley Sanders <\/a>at the Berlin Institute for Medical Systems Biology of the Max Delbr\u00fcck Center (MDC-BIMSB), researchers have found that approximately one in 40 human bone marrow cells carry massive chromosomal alterations \u2013 copy number variations and chromosomal rearrangements, for example \u2013 without causing any apparent disease or abnormality. In addition, cell samples from people over the age of 60 tended to have higher numbers of cells with such genomic alterations, suggesting a previously unidentified mechanism that may contribute to ageing-related diseases. The study was published in the journal <em>Nature Genetics<\/em>.<\/p>\n\n\n\n<p>\u201cThe study highlights that we are all mosaics,\u201d said Korbel, who is Senior Scientist in the <a href=\"https:\/\/www.embl.org\/research\/units\/genome-biology\/\">Genome Biology Unit<\/a> and Head of Data Science at EMBL Heidelberg. \u201cEven so-called normal cells carry all sorts of genetic mutations. Ultimately, this means that there are more genetic differences between individual cells in our bodies than between different human beings.\u201d&nbsp;<\/p>\n\n\n\n<p>Both Korbel and Sanders, Group Leader at the Max Delbr\u00fcck Center study how genetic structural variation \u2013 deletions, duplications, inversions, and translocations of large sections of the human genome \u2013 contributes to the development of disease. In the cancer field, it is well known that genetic mutations can cause cells to grow out of control and lead to the formation of a tumour, explained Sanders. \u201cWe are applying similar concepts to understand how non-cancerous diseases develop,\u201d she added.<\/p>\n\n\n\n<p>The discovery was enabled by a single-cell sequencing technology called Strand-seq, a unique DNA sequencing technique that can reveal subtle details of genomes in single cells that are too difficult to detect with other methods. Sanders is a pioneer in the development of this technology. As part of her doctoral research, she helped develop the Strand-seq protocol, which she later honed with colleagues while working as postdoctoral fellow in Korbel\u2019s lab.&nbsp;<\/p>\n\n\n\n<p>Strand-seq enables researchers to detect structural variants in individual cells with better precision and resolution than any other sequencing technology allows, Sanders said. The technology has ushered in an entirely new understanding of genetic mutations and is now being widely used to characterise genomes and to help translate findings into clinical research.<\/p>\n\n\n\n<p>\u201cWe are just recognising that contrary to what we learned in textbooks, every cell in our body doesn&#8217;t have the exact same DNA,\u201d she said.&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Genetic mosaicism is common<\/strong><\/h2>\n\n\n\n<p>The study represents the first time anyone has used Strand-seq technology to study mutations in the DNA of healthy people. The researchers included biological samples from a range of age groups \u2013 from newborn to 92-years-old \u2013 and found mutations in blood stem cells, which are located in the bone marrow, in 84% of the study participants, indicating that large genetic mutations are very common.<\/p>\n\n\n\n<p>\u201cIt\u2019s just amazing how much heterogeneity there is in our genomes that has gone undetected so far,\u201d said Sanders. \u201cWhat this means in terms of how we define normal human ageing and how this can impact the types of diseases we get is really an important question for the field.\u201d<\/p>\n\n\n\n<p>The study also found that in people over the age of 60, bone marrow cells carrying genetic alterations tended to be more abundant, with populations of specific genetic variants, or sub-clones, more common than others. The frequent presence of these sub-clones suggests a possible connection to ageing.&nbsp;<\/p>\n\n\n\n<p>But whether the mechanisms that keep sub-clones from proliferating in check break down as we age, or whether the expansion of sub-clones itself contributes to diseases of ageing is not known, said Korbel. \u201cIn the future, our single cell studies should give us clearer insights into how these mutations that previously went unnoticed affect our health and potentially contribute to how we age.\u201d&nbsp;<\/p>\n\n\n\n<p><em>This article has been minimally adapted from the press release published by the Max Delbr\u00fcck Center.<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Blood stem cells from healthy people carry major chromosomal alterations, a study in Nature Genetics by researchers at the Max Delbr\u00fcck Center and the European Molecular Biology Laboratory (EMBL) finds. The discovery suggests that we are all genetic mosaics, which may contribute to ageing-related&hellip;<\/p>\n","protected":false},"author":16,"featured_media":68233,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[17591],"tags":[862,969,41,42,420],"embl_taxonomy":[19305],"class_list":["post-68223","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-science-technology","tag-ageing","tag-bone-marrow","tag-genetics","tag-genomics","tag-korbel","embl_taxonomy-korbel-group"],"acf":{"featured":true,"show_featured_image":false,"field_target_display":"embl","field_article_language":{"value":"english","label":"English"},"article_intro":"<p>Blood stem cells from healthy people carry major chromosomal alterations, suggesting we are all genetic mosaics, according to a new study from EMBL and the Max Delbr\u00fcck Center.<\/p>\n","related_links":[{"link_description":"Press release from the Max Delbr\u00fcck Center for Molecular Medicine","link_url":"https:\/\/www.mdc-berlin.de\/news\/press\/genetic-mosaicism-more-common-thought"},{"link_description":"Korbel Group at EMBL","link_url":"https:\/\/www.embl.org\/groups\/korbel\/"},{"link_description":"Genome Biology Unit at EMBL","link_url":"https:\/\/www.embl.org\/research\/units\/genome-biology\/"},{"link_description":"Sanders Group at Max Delbr\u00fcck Center for Molecular Medicine","link_url":"https:\/\/www.mdc-berlin.de\/sanders"},{"link_description":"","link_url":""}],"source_article":[{"publication_title":"Cell type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells. ","publication_link":{"title":"","url":" https:\/\/www.nature.com\/articles\/s41588-024-01754-2","target":""},"publication_authors":"Korbel J., et al. ","publication_source":"Nature Genetics","publication_date":"28 May\/2024","publication_doi":"10.1038\/s41588-024-01754-2"}],"in_this_article":false,"press_contact":"None","article_translations":false,"languages":"","vf_locked":false},"embl_taxonomy_terms":[{"uuid":"a:3:{i:0;s:36:\"302cfdf7-365b-462a-be65-82c7b783ebf7\";i:1;s:36:\"fe59a59f-fd7d-49b3-b3e4-bdd33a6642c3\";i:2;s:36:\"ea772278-0afe-4a84-8ef0-0f426d78ea42\";}","parents":[],"name":["Korbel Group"],"slug":"korbel-group","description":"What &gt; Genome Biology &gt; Korbel Group"}],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.2 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Genetic mosaicism more common than thought | EMBL<\/title>\n<meta name=\"description\" content=\"New study shows blood stem cells from healthy people carry major chromosomal alterations, suggesting we are all genetic mosaics.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.embl.org\/news\/science-technology\/genetic-mosaicism-more-common-than-thought\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genetic mosaicism more common than thought | EMBL\" \/>\n<meta property=\"og:description\" content=\"New study shows blood stem cells from healthy people carry major chromosomal alterations, suggesting we are all genetic mosaics.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.embl.org\/news\/science-technology\/genetic-mosaicism-more-common-than-thought\/\" \/>\n<meta property=\"og:site_name\" content=\"EMBL\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/embl.org\/\" \/>\n<meta property=\"article:published_time\" content=\"2024-05-28T12:29:23+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2024-05-28T12:29:30+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2024\/05\/20240429_Korbel_1000x600px.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1000\" \/>\n\t<meta property=\"og:image:height\" content=\"600\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Guest author(s)\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@embl\" \/>\n<meta name=\"twitter:site\" content=\"@embl\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Guest author(s)\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"3 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"NewsArticle\",\"@id\":\"https:\/\/www.embl.org\/news\/science-technology\/genetic-mosaicism-more-common-than-thought\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.embl.org\/news\/science-technology\/genetic-mosaicism-more-common-than-thought\/\"},\"author\":{\"name\":\"Guest author(s)\",\"@id\":\"https:\/\/www.embl.org\/news\/#\/schema\/person\/b4d9366b2ebe691c4015c64c3619205b\"},\"headline\":\"Genetic mosaicism more common than thought\",\"datePublished\":\"2024-05-28T12:29:23+00:00\",\"dateModified\":\"2024-05-28T12:29:30+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/www.embl.org\/news\/science-technology\/genetic-mosaicism-more-common-than-thought\/\"},\"wordCount\":648,\"publisher\":{\"@id\":\"https:\/\/www.embl.org\/news\/#organization\"},\"image\":{\"@id\":\"https:\/\/www.embl.org\/news\/science-technology\/genetic-mosaicism-more-common-than-thought\/#primaryimage\"},\"thumbnailUrl\":\"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2024\/05\/20240429_Korbel_1000x600px.jpg\",\"keywords\":[\"ageing\",\"bone marrow\",\"genetics\",\"genomics\",\"korbel\"],\"articleSection\":[\"Science &amp; 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