Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.

ABSTRACT: Genetic differences that specify unique aspects of human evolution have typically been identified by comparative analyses between the genomes of humans and closely related primates, including more recently the genomes of archaic hominins. Not all regions of the genome, however, are equally amenable to such study. Recurrent copy number variation (CNV) at chromosome 16p11.2 accounts for approximately 1% of cases of autism and is mediated by a complex set of segmental duplications, many of which arose recently during human evolution. Here we reconstruct the evolutionary history of the locus and identify bolA family member 2 (BOLA2) as a gene duplicated exclusively in Homo sapiens. We estimate that a 95-kilobase-pair segment containing BOLA2 duplicated across the critical region approximately

SUBMITTER: Nuttle X 

PROVIDER: S-EPMC4988886 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature