Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
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ABSTRACT:
SUBMITTER: Doan RN
PROVIDER: S-EPMC5063026 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Publications
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
Doan Ryan N RN Bae Byoung-Il BI Cubelos Beatriz B Chang Cindy C Hossain Amer A AA Al-Saad Samira S Mukaddes Nahit M NM Oner Ozgur O Al-Saffar Muna M Balkhy Soher S Gascon Generoso G GG Nieto Marta M Walsh Christopher A CA
Cell 20160922 2
Comparative analyses have identified genomic regions potentially involved in human evolution but do not directly assess function. Human accelerated regions (HARs) represent conserved genomic loci with elevated divergence in humans. If some HARs regulate human-specific social and behavioral traits, then mutations would likely impact cognitive and social disorders. Strikingly, rare biallelic point mutations-identified by whole-genome and targeted "HAR-ome" sequencing-showed a significant excess in ...[more]
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