The formation and propagation of human Robertsonian chromosomes.

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^1-5. They have been recognized cytogenetically for more than a century⁶, 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 domain⁷ 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

SUBMITTER: de Lima LG 

PROVIDER: S-EPMC12657243 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature