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Review

Multifaceted Microcephaly-Related Gene MCPH1

1
Leibniz Institute on Aging—Fritz Lipmann Institute (FLI), Beutenbergstrasse 11, 07745 Jena, Germany
2
Faculty of Biological Sciences, Friedrich-Schiller University of Jena, Bachstrasse 18k, 07743 Jena, Germany
*
Author to whom correspondence should be addressed.
Academic Editor: Luisa Alexandra Meireles Pinto
Cells 2022, 11(2), 275; https://doi.org/10.3390/cells11020275
Received: 19 December 2021 / Revised: 11 January 2022 / Accepted: 12 January 2022 / Published: 14 January 2022
(This article belongs to the Special Issue Frontiers in Neurogenesis)
MCPH1, or BRIT1, is often mutated in human primary microcephaly type 1, a neurodevelopmental disorder characterized by a smaller brain size at birth, due to its dysfunction in regulating the proliferation and self-renewal of neuroprogenitor cells. In the last 20 years or so, genetic and cellular studies have identified MCPH1 as a multifaceted protein in various cellular functions, including DNA damage signaling and repair, the regulation of chromosome condensation, cell-cycle progression, centrosome activity and the metabolism. Yet, genetic and animal model studies have revealed an unpredicted essential function of MPCH1 in gonad development and tumorigenesis, although the underlying mechanism remains elusive. These studies have begun to shed light on the role of MPCH1 in controlling various pathobiological processes of the disorder. Here, we summarize the biological functions of MCPH1, and lessons learnt from cellular and mouse models of MCPH1. View Full-Text
Keywords: MCPH; neurogenesis; gonad development; tumorigenesis; mouse models MCPH; neurogenesis; gonad development; tumorigenesis; mouse models
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MDPI and ACS Style

Kristofova, M.; Ori, A.; Wang, Z.-Q. Multifaceted Microcephaly-Related Gene MCPH1. Cells 2022, 11, 275. https://doi.org/10.3390/cells11020275

AMA Style

Kristofova M, Ori A, Wang Z-Q. Multifaceted Microcephaly-Related Gene MCPH1. Cells. 2022; 11(2):275. https://doi.org/10.3390/cells11020275

Chicago/Turabian Style

Kristofova, Martina, Alessandro Ori, and Zhao-Qi Wang. 2022. "Multifaceted Microcephaly-Related Gene MCPH1" Cells 11, no. 2: 275. https://doi.org/10.3390/cells11020275

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