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Article

Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.

Cell - 6 Oct 2016

Doan Ryan N, Bae Byoung-Il, Cubelos Beatriz, Chang Cindy, Hossain Amer A, Al-Saad Samira, Mukaddes Nahit M, Oner Ozgur, Al-Saffar Muna, Balkhy Soher, Gascon Generoso G, Nieto Marta, Walsh Christopher A

Abstract excerpt

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...

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Identifiers

PMID: 27667684
DOI: 10.1016/j.cell.2016.08.071
PMCID: PMC5063026

Genes

CDKL5
CUX1
GPC4
PTBP2

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