Evolutionary genomics. Evolutionary changes in promoter and enhancer activity during human corticogenesis.

Bibliographic Collection: 
Publication Type: Journal Article
Authors: Reilly, Steven K; Yin, Jun; Ayoub, Albert E; Emera, Deena; Leng, Jing; Cotney, Justin; Sarro, Richard; Rakic, Pasko; Noonan, James P
Year of Publication: 2015
Journal: Science
Volume: 347
Issue: 6226
Pagination: 1155-9
Date Published: 2015 Mar 6
Publication Language: eng
ISSN: 1095-9203
Keywords: Animals, Cerebral Cortex, Enhancer Elements, Genetic, Epigenesis, Genetic, Evolution, Molecular, Gene Expression Regulation, Developmental, Humans, Macaca mulatta, Mice, Organogenesis, Promoter Regions, Genetic, Rats

Human higher cognition is attributed to the evolutionary expansion and elaboration of the human cerebral cortex. However, the genetic mechanisms contributing to these developmental changes are poorly understood. We used comparative epigenetic profiling of human, rhesus macaque, and mouse corticogenesis to identify promoters and enhancers that have gained activity in humans. These gains are significantly enriched in modules of coexpressed genes in the cortex that function in neuronal proliferation, migration, and cortical-map organization. Gain-enriched modules also showed correlated gene expression patterns and similar transcription factor binding site enrichments in promoters and enhancers, suggesting that they are connected by common regulatory mechanisms. Our results reveal coordinated patterns of potential regulatory changes associated with conserved developmental processes during corticogenesis, providing insight into human cortical evolution.

DOI: 10.1126/science.1260943
Alternate Journal: Science
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