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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| Format: | Article |
| Language: | English |
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MDPI AG
2022-01-01
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| Series: | Cells |
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| Online Access: | https://www.mdpi.com/2073-4409/11/2/275 |
| _version_ | 1797495152976068608 |
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| author | Martina Kristofova Alessandro Ori Zhao-Qi Wang |
| author_facet | Martina Kristofova Alessandro Ori Zhao-Qi Wang |
| author_sort | Martina Kristofova |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-10T01:44:22Z |
| format | Article |
| id | doaj.art-8fb64c3200c74a6c9ad12bedb69a27de |
| institution | Directory Open Access Journal |
| issn | 2073-4409 |
| language | English |
| last_indexed | 2024-03-10T01:44:22Z |
| publishDate | 2022-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cells |
| spelling | doaj.art-8fb64c3200c74a6c9ad12bedb69a27de2023-11-23T13:18:54ZengMDPI AGCells2073-44092022-01-0111227510.3390/cells11020275Multifaceted Microcephaly-Related Gene MCPH1Martina Kristofova0Alessandro Ori1Zhao-Qi Wang2Leibniz Institute on Aging—Fritz Lipmann Institute (FLI), Beutenbergstrasse 11, 07745 Jena, GermanyLeibniz Institute on Aging—Fritz Lipmann Institute (FLI), Beutenbergstrasse 11, 07745 Jena, GermanyLeibniz Institute on Aging—Fritz Lipmann Institute (FLI), Beutenbergstrasse 11, 07745 Jena, GermanyMCPH1, 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.https://www.mdpi.com/2073-4409/11/2/275MCPHneurogenesisgonad developmenttumorigenesismouse models |
| spellingShingle | Martina Kristofova Alessandro Ori Zhao-Qi Wang Multifaceted Microcephaly-Related Gene MCPH1 Cells MCPH neurogenesis gonad development tumorigenesis mouse models |
| 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 | MCPH neurogenesis gonad development tumorigenesis mouse models |
| url | https://www.mdpi.com/2073-4409/11/2/275 |
| work_keys_str_mv | AT martinakristofova multifacetedmicrocephalyrelatedgenemcph1 AT alessandroori multifacetedmicrocephalyrelatedgenemcph1 AT zhaoqiwang multifacetedmicrocephalyrelatedgenemcph1 |