Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus.

ABSTRACT: The impact of segmental duplications on human evolution and disease is only just starting to unfold, thanks to advancements in sequencing technologies that allow for their discovery and precise genotyping. The 15q11-q13 locus is a hotspot of recurrent copy number variation associated with Prader-Willi/Angelman syndromes, developmental delay, autism, and epilepsy and is mediated by complex segmental duplications, many of which arose recently during evolution. To gain insight into the instability of this region, we characterized its architecture in human and nonhuman primates, reconstructing the evolutionary history of five different inversions that rearranged the region in different species primarily by accumulation of segmental duplications. Comparative analysis of human and nonhuman prima

SUBMITTER: Paparella A 

PROVIDER: S-EPMC10648317 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature