1. Evolutionary changes in promoter and enhancer activity during human corticogenesis
- Author
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Albert E. Ayoub, Deena Emera, Justin Cotney, Jun Yin, James P. Noonan, Pasko Rakic, Jing Leng, Steven K. Reilly, and Richard Sarro
- Subjects
Organogenesis ,Biology ,Human accelerated regions ,Article ,Epigenesis, Genetic ,Evolution, Molecular ,Mice ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Animals ,Humans ,Epigenetics ,Promoter Regions, Genetic ,Enhancer ,Gene ,030304 developmental biology ,Cerebral Cortex ,Genetics ,Regulation of gene expression ,0303 health sciences ,Multidisciplinary ,Gene Expression Regulation, Developmental ,Promoter ,Macaca mulatta ,Rats ,Cell biology ,Corticogenesis ,Enhancer Elements, Genetic ,medicine.anatomical_structure ,Cerebral cortex ,030217 neurology & neurosurgery - Abstract
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.
- Published
- 2015
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