常染色体隐性遗传小头畸形相关蛋白研究进展

doi:10.16288/j.yczz.19-070

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Hereditas(Beijing) ›› 2019, Vol. 41 ›› Issue (10): 905-918.doi: 10.16288/j.yczz.19-070

• Review • Previous Articles Next Articles

Update on autosomal recessive primary microcephaly (MCPH)-associated proteins

Yujie Wang,Xiaokun Zhou,Dan Xu()

College of Biological Science and Engineering, Fuzhou University, Fuzhou 350108, China

Received:2019-04-18 Revised:2019-05-15 Online:2019-10-20 Published:2019-06-04
Contact: Xu Dan E-mail:xu200828@163.com
Supported by:
Supported by the Natural Science Foundation of the Fujian Province No.(2018J01730)

Abstract

Abstract:

Brain development diseases refer to a group of diseases that affect the development of the brain or the central nervous system. Autosomal recessive primary microcephaly (MCPH) is a typical neurodevelopmental disorder characterized by a decreased brain size, mental retardation and abnormal behaviors. To date, at least 25 genes have been discovered to cause MCPH when mutated. These genes were named MCPH1-25 according to the discovery order. MCPH proteins play important roles in regulating brain developmental signaling pathways. Here, we provide a timely review of the expression patterns, cellular localization, molecular functions, phenotypes, as well as animal models of these 25 MCPH proteins that will expedite our understanding of the pathogenesis of brain disorders at both molecular and cellular levels.

Key words: microcephaly, expression pattern, cellular component, phenotype overview, molecular function, animal models

Yujie Wang, Xiaokun Zhou, Dan Xu. Update on autosomal recessive primary microcephaly (MCPH)-associated proteins[J]. Hereditas(Beijing), 2019, 41(10): 905-918.

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