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

Evan Eichler and colleagues reconstruct the evolutionary history of a region of the genome at chromosome 16p11.2 across Homo sapiens, chimpanzee and orangutan. This locus has been challenging to characterize because of extensive structural variation, but has been of interest for various reasons including associations to autism and developmental delay. The authors now find that a gene at this locus, BOLA2, shows Homo sapiens-specific duplication. They estimate that this occurred around 280,000 years ago, with the duplication nearly fixed early in the human lineage and resulting in a new in-frame fusion transcript.