{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["de Lima LG"],"funding":["NIDA NIH HHS","NHGRI NIH HHS","NCI NIH HHS"],"pagination":["952-961"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12657243"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["647(8091)"],"pubmed_abstract":["Robertsonian chromosomes are a type of variant chromosome that is commonly found in nature. Present in 1 in 800 humans, these chromosomes can underlie infertility, trisomies and increased cancer incidence<sup>1-5</sup>. They have been recognized cytogenetically for more than a century<sup>6</sup>, yet their origins have remained unknown. Here we describe complete assemblies of three human Robertsonian chromosomes. We identified a common breakpoint in SST1, a macrosatellite DNA located on chromosomes 13, 14 and 21, which commonly undergo Robertsonian translocation. SST1 is contained within a larger shared homology domain<sup>7</sup> that is inverted on chromosome 14, which enables a meiotic crossover event that fuses the long arms of two chromosomes. Robertsonian chromosomes have two centro"],"journal":["Nature"],"pubmed_title":["The formation and propagation of human Robertsonian chromosomes."],"pmcid":["PMC12657243"],"funding_grant_id":["R01 HG013017","U01 DA057530","R01 CA266339"],"pubmed_authors":["Hall K","de Lima LG","Seidel C","Crawford J","Fagen BL","Garrison E","Young AC","Rhie A","Walenz BP","Brooks SY","Peterson M","Guarracino A","Phillippy AM","Bouffard GG","Koren S","Pickett BD","Gerton JL","Potapova T","McKinney S","Solar SJ"],"additional_accession":[]},"is_claimable":false,"name":"The formation and propagation of human Robertsonian chromosomes.","description":"Robertsonian chromosomes are a type of variant chromosome that is commonly found in nature. Present in 1 in 800 humans, these chromosomes can underlie infertility, trisomies and increased cancer incidence<sup>1-5</sup>. They have been recognized cytogenetically for more than a century<sup>6</sup>, yet their origins have remained unknown. Here we describe complete assemblies of three human Robertsonian chromosomes. We identified a common breakpoint in SST1, a macrosatellite DNA located on chromosomes 13, 14 and 21, which commonly undergo Robertsonian translocation. SST1 is contained within a larger shared homology domain<sup>7</sup> that is inverted on chromosome 14, which enables a meiotic crossover event that fuses the long arms of two chromosomes. Robertsonian chromosomes have two centro","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Nov","modification":"2026-06-06T15:44:00.31Z","creation":"2026-06-02T03:09:15.149Z"},"accession":"S-EPMC12657243","cross_references":{"pubmed":["40993387"],"doi":["10.1038/s41586-025-09540-8"]}}