The N-terminal BRCT domain determines MCPH1 function in brain development and fertility

Abstract MCPH1 is a causal gene for the neurodevelopmental disorder, human primary microcephaly (MCPH1, OMIM251200). Most pathogenic mutations are located in the N-terminal region of the gene, which encodes a BRCT domain, suggesting an important function of this domain in brain size determination. T...

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Bibliographic Details
Main Authors: Xiaoqian Liu, Nadine Schneble-Löhnert, Martina Kristofova, Xiaobing Qing, Jan Labisch, Susanne Hofmann, Sandra Ehrenberg, Mara Sannai, Tjard Jörß, Alessandro Ori, Maren Godmann, Zhao-Qi Wang
Format: Article
Language:English
Published: Nature Publishing Group 2021-02-01
Series:Cell Death and Disease
Online Access:https://doi.org/10.1038/s41419-021-03406-3