期刊
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
卷 368, 期 1632, 页码 -出版社
ROYAL SOC
DOI: 10.1098/rstb.2013.0019
关键词
NPAS3; brain; evolution; schizophrenia; exaptation; MIR
类别
资金
- Agencia Nacional de Promocion Cientifica y Tecnologica [PICT 2008-1071]
- Consejo Nacional de Investigaciones Cientificas y Tecnicas (CONICET-Argentina) [PIP 0299]
- Proyecto de Financiamiento Basal CONICYT
- CONICET
- CONICYT
The developmental brain gene NPAS3 stands out as a hot spot in human evolution because it contains the largest number of human-specific, fast-evolving, conserved, non-coding elements. In this paper we studied 2xHAR142, one of these elements that is located in the fifth intron of NPAS3. Using transgenic mice, we show that the mouse and chimp 2xHAR142 orthologues behave as transcriptional enhancers driving expression of the reporter gene lacZ to a similar NPAS3 expression subdomain in the mouse central nervous system. Interestingly, the human 2xHAR142 orthologue drives lacZ expression to an extended expression pattern in the nervous system. Thus, molecular evolution of 2xHAR142 provides the first documented example of human-specific heterotopy in the forebrain promoted by a transcriptional enhancer and suggests that it may have contributed to assemble the unique properties of the human brain.
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