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

For: All,

This study reveals that a human-specific gene duplication (BOLA2) that occurred about 282,000 years ago not only increased a gene linked to iron processing but also created the structural 'weak spots' in chromosome 16p11.2 where more than 96% of the deletions and duplications associated with autism occur—helping explain why these rearrangements happen in the first place.