Recombination between heterologous human acrocentric chromosomes.

ABSTRACT: The short arms of the human acrocentric chromosomes 13, 14, 15, 21 and 22 (SAACs) share large homologous regions, including ribosomal DNA repeats and extended segmental duplications^1,2. Although the resolution of these regions in the first complete assembly of a human genome-the Telomere-to-Telomere Consortium's CHM13 assembly (T2T-CHM13)-provided a model of their homology³, it remained unclear whether these patterns were ancestral or maintained by ongoing recombination exchange. Here we show that acrocentric chromosomes contain pseudo-homologous regions (PHRs) indicative of recombination between non-homologous sequences. Utilizing an all-to-all comparison of the human pangenome from the Human Pangenome Reference Consortium⁴ (HPRC), we find that contigs fro

SUBMITTER: Guarracino A 

PROVIDER: S-EPMC10172130 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature