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Multifaceted Microcephaly-Related Gene MCPH1

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 stu...

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Detalles Bibliográficos
Autores principales: Kristofova, Martina, Ori, Alessandro, Wang, Zhao-Qi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774270/
https://www.ncbi.nlm.nih.gov/pubmed/35053391
http://dx.doi.org/10.3390/cells11020275
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author Kristofova, Martina
Ori, Alessandro
Wang, Zhao-Qi
author_facet Kristofova, Martina
Ori, Alessandro
Wang, Zhao-Qi
author_sort Kristofova, Martina
collection PubMed
description 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.
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spelling pubmed-87742702022-01-21 Multifaceted Microcephaly-Related Gene MCPH1 Kristofova, Martina Ori, Alessandro Wang, Zhao-Qi Cells Review 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. MDPI 2022-01-14 /pmc/articles/PMC8774270/ /pubmed/35053391 http://dx.doi.org/10.3390/cells11020275 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Kristofova, Martina
Ori, Alessandro
Wang, Zhao-Qi
Multifaceted Microcephaly-Related Gene MCPH1
title Multifaceted Microcephaly-Related Gene MCPH1
title_full Multifaceted Microcephaly-Related Gene MCPH1
title_fullStr Multifaceted Microcephaly-Related Gene MCPH1
title_full_unstemmed Multifaceted Microcephaly-Related Gene MCPH1
title_short Multifaceted Microcephaly-Related Gene MCPH1
title_sort multifaceted microcephaly-related gene mcph1
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774270/
https://www.ncbi.nlm.nih.gov/pubmed/35053391
http://dx.doi.org/10.3390/cells11020275
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