{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T00:07:36Z","timestamp":1785370056079,"version":"3.55.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2024,12,6]],"date-time":"2024-12-06T00:00:00Z","timestamp":1733443200000},"content-version":"am","delay-in-days":1,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>H-DNA is an intramolecular DNA triplex formed by homopurine-homopyrimidine mirror repeats. Since its discovery, the field has advanced from characterizing the structure in vitro to discovering its existence and role in vivo. H-DNA interacts with cellular machinery in unique ways, stalling DNA and RNA polymerases and causing genome. The foundational S1 nuclease and chemical probing technologies originally used to show H-DNA formation have been updated and combined with genome-wide sequencing methods for large-scale mapping of secondary structures. There is evidence for triplex H-DNA\u2019s role in polycystic kidney disease, cancer, and numerous repeat expansion diseases. In polycystic kidney disease (PKD), an H-DNA forming repeat region within the PKD1 gene stalls DNA replication and induces fragility. H-DNA- forming repeats in various genes have a role in cancer; the most well-studied examples involve H-DNA-mediated fragility causing translocations in multiple lymphomas. Lastly, H-DNA-forming repeats have been implicated in four repeat expansion diseases: Friedreich's ataxia (FRDA), GAA-FGF14-related ataxia, X-linked Dystonia Parkinsonism (XDP), and cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS). In this review, we summarize H-DNA\u2019s discovery and characterization, evidence for its existence and function in vivo, and the field's current knowledge on its role in physiology and pathology.<\/jats:p>","DOI":"10.1093\/narmme\/ugae024","type":"journal-article","created":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T21:45:17Z","timestamp":1733867117000},"source":"Crossref","is-referenced-by-count":15,"title":["Triplex H-DNA Structure: The Long and Winding Road from the Discovery to Its Role in Human Disease"],"prefix":"10.1093","author":[{"given":"Julia A","family":"Hisey","sequence":"first","affiliation":[{"name":"Department of Biology, Tufts University , Medford, MA ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3414-6369","authenticated-orcid":false,"given":"Chiara","family":"Masnovo","sequence":"additional","affiliation":[{"name":"Department of Biology, Tufts University , Medford, MA ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4576-7582","authenticated-orcid":false,"given":"Sergei M","family":"Mirkin","sequence":"additional","affiliation":[{"name":"Department of Biology, Tufts University , Medford, MA ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,12,5]]},"container-title":["NAR Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/narmolmed\/advance-article-pdf\/doi\/10.1093\/narmme\/ugae024\/60964780\/ugae024.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/narmolmed\/advance-article-pdf\/doi\/10.1093\/narmme\/ugae024\/60964780\/ugae024.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T21:45:17Z","timestamp":1733867117000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/narmolmed\/advance-article\/doi\/10.1093\/narmme\/ugae024\/7917613"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,5]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1093\/narmme\/ugae024","relation":{},"ISSN":["2976-856X"],"issn-type":[{"value":"2976-856X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,5]]},"article-number":"ugae024"}}