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...
Main Authors: | , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2021-02-01
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Series: | Cell Death and Disease |
Online Access: | https://doi.org/10.1038/s41419-021-03406-3 |