{"id":584941,"date":"2026-08-06T12:22:12","date_gmt":"2026-08-06T12:22:12","guid":{"rendered":"https:\/\/www.newsbeep.com\/ie\/584941\/"},"modified":"2026-08-06T12:22:12","modified_gmt":"2026-08-06T12:22:12","slug":"strange-dna-structures-found-in-the-human-genome-go-beyond-the-double-helix-sciencealert","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/ie\/584941\/","title":{"rendered":"Strange DNA Structures Found in The Human Genome Go Beyond The Double Helix : ScienceAlert"},"content":{"rendered":"<p>One of the most iconic visual representations in biological science is the double helix \u2013 the twisting, twin-stranded ladder that defines the shape of DNA molecules.<\/p>\n<p>But not all DNA follows this same recognizable pattern. <a href=\"https:\/\/doi.org\/10.1128\/mmbr.00110-20\" rel=\"nofollow noopener\" target=\"_blank\">Alternative kinds of DNA structures do exist<\/a>, and new technologies are helping to reveal them.<\/p>\n<p>In a study last year, scientists identified where these &#8220;non-canonical&#8221; forms of DNA (aka non-<a href=\"https:\/\/en.wikipedia.org\/wiki\/Nucleic_acid_double_helix\" rel=\"nofollow noopener\" target=\"_blank\">B DNA<\/a>) emerge in human and other primate genomes.<\/p>\n<p>The analysis, published in <a href=\"https:\/\/doi.org\/10.1093\/nar\/gkaf298\" rel=\"nofollow noopener\" target=\"_blank\">Nucleic Acids Research<\/a>, helps to complete our understanding of the location and diversity of DNA formations inside our genome.<\/p>\n<p>&#8220;When the human genome was first published in 2001, it actually wasn&#8217;t complete,&#8221; <a href=\"https:\/\/www.psu.edu\/news\/eberly-college-science\/story\/beyond-double-helix-alternative-dna-conformations-ape-genomes\" rel=\"nofollow noopener\" target=\"_blank\">said<\/a> biologist Kateryna Makova from Pennsylvania State University.<\/p>\n<p>&#8220;About 8 percent of the genome, largely repetitive DNA, was left undetermined.&#8221;<\/p>\n<p>A huge research effort in the years since, culminating in a project called the <a href=\"https:\/\/www.telomere2telomere.org\" rel=\"nofollow noopener\" target=\"_blank\">Telomere-to-Telomere (T2T) consortium<\/a>, worked to fill in more of the data, assembling the <a href=\"https:\/\/www.sciencealert.com\/we-now-have-the-most-complete-gapless-sequence-of-the-human-genome-in-dazzling-detail\" rel=\"nofollow noopener\" target=\"_blank\">most complete reference human genome<\/a> in 2022, before finally <a href=\"https:\/\/www.sciencealert.com\/scientists-sequence-last-piece-of-the-human-genome-the-y-chromosome\" rel=\"nofollow noopener\" target=\"_blank\">sequencing the last missing piece in 2023<\/a>.<\/p>\n<p><img decoding=\"async\" width=\"900\" height=\"675\" src=\"https:\/\/www.newsbeep.com\/ie\/wp-content\/uploads\/2026\/08\/ape-genome-illustration-900x675.jpg\" alt=\"Strange DNA Structures Found in The Human Genome Go Beyond The Double Helix\" class=\"wp-image-212399\"   loading=\"lazy\"\/>Illustration of primates and their representative chromosomes, with canonical helical and non-B DNA formations. (<a href=\"https:\/\/www.psu.edu\/news\/eberly-college-science\/story\/beyond-double-helix-alternative-dna-conformations-ape-genomes\" rel=\"nofollow noopener\" target=\"_blank\">Dani Zemba and Makova Laboratory\/Penn State<\/a>)<\/p>\n<p>In 2025, T2T scientists took it a step further, <a href=\"https:\/\/doi.org\/10.1038\/s41586-025-08816-3\" rel=\"nofollow noopener\" target=\"_blank\">completing the reference genomes for six ape species<\/a>: chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan, and siamang.<\/p>\n<p>In their new study, Makova&#8217;s team analyzed the T2T reference genomes for humans and the six ape species, looking for patterns in the genetic code that indicated non-B DNA sequences.<\/p>\n<p>&#8220;We now have a complete picture of the motifs that are prone to non-B DNA formation for these genomes,&#8221; <a href=\"https:\/\/www.psu.edu\/news\/eberly-college-science\/story\/beyond-double-helix-alternative-dna-conformations-ape-genomes\" rel=\"nofollow noopener\" target=\"_blank\">said<\/a> Penn State biologist Linn\u00e9a Smeds, the first author of the study.<\/p>\n<p>The new findings \u2013 and the T2F datasets themselves \u2013 were made possible by newer <a href=\"https:\/\/en.wikipedia.org\/wiki\/Third-generation_sequencing\" rel=\"nofollow noopener\" target=\"_blank\">long-read sequencing technologies<\/a>, which are able to sequence genomes in fewer, longer segments (rather than short snippets that are difficult to assemble).<\/p>\n<p><img decoding=\"async\" src=\"https:\/\/www.newsbeep.com\/ie\/wp-content\/uploads\/2026\/08\/1786018931_699_0.jpg\" alt=\"YouTube Thumbnail\" tabindex=\"0\" role=\"button\" class=\"youtube-thumbnail-preview\" loading=\"lazy\"\/> frameborder=&#8221;0\u2033 allow=&#8221;accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share&#8221; referrerpolicy=&#8221;strict-origin-when-cross-origin&#8221; allowfullscreen&gt;<\/p>\n<p>The ability to effectively zoom out and parse more genetic code at a time enables scientists to better detect functional elements in the genome, including sequences of non-B DNA that had previously been missed, and which have been understudied as a result.<\/p>\n<p>When the team analyzed the human reference genome, the long-read data revealed more non-canonical DNA signatures than the previous short-read sequencing information had suggested.<\/p>\n<p>&#8220;We found an overrepresentation of most types of non-B DNA motifs in the newly added sequences of the human T2T genome,&#8221; the researchers <a href=\"https:\/\/doi.org\/10.1093\/nar\/gkaf298\" rel=\"nofollow noopener\" target=\"_blank\">write in their paper<\/a>.<\/p>\n<p>&#8220;The ability to analyze previously inaccessible regions of the genomes, which are rich in non-B DNA motifs, allowed us to uncover the complete genome-wide repertoire of such motifs in humans, as well as non-human apes whose T2T genomes are available to date.&#8221;<\/p>\n<p><a href=\"https:\/\/www.sciencealert.com\/newsletter?utm_source=promo_stargazing\" rel=\"nofollow noopener\" target=\"_blank\"><img decoding=\"async\" width=\"642\" height=\"336\" src=\"https:\/\/www.newsbeep.com\/ie\/wp-content\/uploads\/2026\/06\/FOMO-1200x628-_Dont-miss-the-next-breakthrough_-cosmic-colourful-642x336.jpg\" alt=\"Subscribe to ScienceAlert's free fact-checked newsletter\" class=\"wp-image-201722\"   loading=\"lazy\"\/><\/a><\/p>\n<p>Overall, the researchers found many non-B DNA motifs in the human genome were located in <a href=\"https:\/\/en.wikipedia.org\/wiki\/Satellite_DNA\" rel=\"nofollow noopener\" target=\"_blank\">satellite DNA<\/a> \u2013 repeating sections of <a href=\"https:\/\/en.wikipedia.org\/wiki\/Non-coding_DNA\" rel=\"nofollow noopener\" target=\"_blank\">non-coding DNA<\/a>, and often involved in chromosome organization and stability. In ape genomes, non-B motifs were unevenly distributed.<\/p>\n<p>Non-canonical DNA formations can take numerous shapes, including <a href=\"https:\/\/www.sciencedirect.com\/topics\/pharmacology-toxicology-and-pharmaceutical-science\/curved-dna\" rel=\"nofollow noopener\" target=\"_blank\">bent DNA<\/a>, <a href=\"https:\/\/en.wikipedia.org\/wiki\/Stem-loop\" rel=\"nofollow noopener\" target=\"_blank\">hairpins<\/a>, <a href=\"https:\/\/en.wikipedia.org\/wiki\/G-quadruplex\" rel=\"nofollow noopener\" target=\"_blank\">G-quadruplexes<\/a> (G4s), and <a href=\"https:\/\/en.wikipedia.org\/wiki\/Z-DNA\" rel=\"nofollow noopener\" target=\"_blank\">Z-DNA<\/a>.<\/p>\n<p>Evidence suggests these alternative forms \u2013 estimated to occupy <a href=\"https:\/\/dx.doi.org\/10.1101\/gr.241257.118\" rel=\"nofollow noopener\" target=\"_blank\">13 percent<\/a> of the human genome \u2013 could have multiple effects in mammalian cells, affecting DNA replication, chromosome protection, DNA transcription regulation, and <a href=\"https:\/\/www.sciencealert.com\/cannabis-use-is-linked-to-epigenetic-changes-scientists-discovered\" data-type=\"link\" data-id=\"https:\/\/www.sciencealert.com\/cannabis-use-is-linked-to-epigenetic-changes-scientists-discovered\" rel=\"nofollow noopener\" target=\"_blank\">methylation processes<\/a>.<\/p>\n<p>While some evidence suggests non-B DNA can have positive effects, <a href=\"https:\/\/doi.org\/10.1016\/j.tig.2022.11.005\" data-type=\"link\" data-id=\"https:\/\/doi.org\/10.1016\/j.tig.2022.11.005\" rel=\"nofollow noopener\" target=\"_blank\">driving genome evolution<\/a>, for example, there&#8217;s also research indicating that non-canonical DNA forms might have harmful potential.<\/p>\n<p>Related: <a href=\"https:\/\/www.sciencealert.com\/scientists-sequence-last-piece-of-the-human-genome-the-y-chromosome\" data-type=\"2023\/08\/24\" data-id=\"103849\" rel=\"nofollow noopener\" target=\"_blank\">Scientists Sequence Last Piece of The Human Genome: The Y Chromosome<\/a><\/p>\n<p>&#8220;Non-B structures may impede replication and elevate mutagenesis and genome instability,&#8221; the team <a href=\"https:\/\/doi.org\/10.1093\/nar\/gkaf298\" data-type=\"link\" data-id=\"https:\/\/doi.org\/10.1093\/nar\/gkaf298\" rel=\"nofollow noopener\" target=\"_blank\">writes<\/a>, noting the alternative shapes are thought to contribute to cancers, neurodegenerative diseases, and genetic disorders like <a href=\"https:\/\/en.wikipedia.org\/wiki\/Werner_syndrome\" rel=\"nofollow noopener\" target=\"_blank\">Werner syndrome<\/a>.<\/p>\n<p>In time, the hope is that our growing knowledge of non-B DNA and where it emerges in the human genome will ultimately help us better understand how these non-canonical shapes might be affecting our health.<\/p>\n<p>&#8220;There has been a recent shift in how we think about the function of the genome to go beyond sequence to include structure,&#8221; <a href=\"https:\/\/www.psu.edu\/news\/eberly-college-science\/story\/beyond-double-helix-alternative-dna-conformations-ape-genomes\" rel=\"nofollow noopener\" target=\"_blank\">Makova says<\/a>.<\/p>\n<p>&#8220;We hope our study will serve as a springboard for additional studies of the function of these novel structural characteristics in the genome.&#8221;<\/p>\n<p>The findings are reported in <a href=\"https:\/\/doi.org\/10.1093\/nar\/gkaf298\" rel=\"nofollow noopener\" target=\"_blank\">Nucleic Acids Research<\/a>.<\/p>\n<p>This article was fact-checked by <a href=\"https:\/\/www.sciencealert.com\/clare-watson\" rel=\"nofollow noopener\" target=\"_blank\">Clare Watson<\/a> and edited by <a href=\"https:\/\/www.sciencealert.com\/clare-watson\" rel=\"nofollow noopener\" target=\"_blank\">Clare Watson<\/a>. While we pride ourselves on our process, we are only human. If you spot a mistake, <a href=\"https:\/\/www.sciencealert.com\/contact-us\" rel=\"nofollow noopener\" target=\"_blank\">please let us know<\/a>.<\/p>\n","protected":false},"excerpt":{"rendered":"One of the most iconic visual representations in biological science is the double helix \u2013 the twisting, twin-stranded&hellip;\n","protected":false},"author":2,"featured_media":584942,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[7],"tags":[61,60,2209,82],"class_list":["post-584941","post","type-post","status-publish","format-standard","has-post-thumbnail","category-science","tag-ie","tag-ireland","tag-msft-content","tag-science"],"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/posts\/584941","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/comments?post=584941"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/posts\/584941\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/media\/584942"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/media?parent=584941"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/categories?post=584941"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/tags?post=584941"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}