<i>AGAP</i> duplicons associate with structural diversity at Chromosome 10q11.22.

ABSTRACT: The 10q11.22 chromosomal region is a duplication-rich interval of the human genome and one of the last to be fully assembled. It carries copy number-variable genes associated with intellectual disability, bipolar disorder, and obesity. In this study, we characterized the structural diversity at this locus by analyzing 64 haploid assemblies produced by the Human Pangenome Reference Consortium. We identified 11 alternative haplotypes that differ in the copy number and/or orientation of large genomic segments, ranging from hundreds of kilobase pairs (kbp) to over one megabase pair (Mbp). We uncovered a 2.4 Mbp size difference between the shortest and longest haplotypes. Breakpoint analysis revealed that genomic instability results from nonallelic homologous recombination between segmental dup

SUBMITTER: Fornezza S 

PROVIDER: S-EPMC11534156 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature