Recurrent structural variation and recent turnover at the 17q21.31 locus in humans and great apes.

ABSTRACT: The 17q21.31 locus in humans harbors several complex structural haplotypes including a ~970kb inversion. Different inversion haplotypes have been associated with susceptibility to microdeletions causing Koolen-de Vries syndrome and variation in fecundity and recombination rates. Here, using 210 haplotype-resolved human genome assemblies and pangenome graph-based approaches we characterize 11 distinct structural haplotypes, several of which have not been previously described. Extending our analyses to a set of haplotype-resolved great-ape genomes, we characterize the structure of an independent inversion in chimpanzees which extends an additional 650kb, encompasses 5 additional genes, and is ~2 million years younger than the human inversion. We further determine that gorillas exhibit an ind

SUBMITTER: Sridharan S 

PROVIDER: S-EPMC12485747 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature