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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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. |
format | Online Article Text |
id | pubmed-8774270 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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