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Generation of iPSC-derived Human Brain Organoids to Model Early Neurodevelopmental Disorders
Published on: April 14, 2017
The DNA damage response molecule MCPH1 in brain development and beyond
Xiaoqian Liu1, Zhong-Wei Zhou1, Zhao-Qi Wang2
1Leibniz Institute on Aging-Fritz Lipmann Institute (FLI), Jena, Germany.
Abstract:
Microcephalin (MCPH1) is identified as being responsible for the neurodevelopmental disorder primary microcephaly type 1, which is characterized by a smaller-than-normal brain size and mental retardation. MCPH1 has originally been identified as an important regulator of telomere integrity and of cell cycle control. Genetic and cellular studies show that MCPH1 controls neurogenesis by coordinating the cell cycle and the centrosome cycle and thereby regulating the division mode of neuroprogenitors to prevent the exhaustion of the progenitor pool and thereby microcephaly. In addition to its role in neurogenesis, MCPH1 plays a role in gonad development. MCPH1 also functions as a tumor suppressor in several human cancers as well as in mouse models. Here, we review the role of MCPH1 in DNA damage response, cell cycle control, chromosome condensation and chromatin remodeling. We also summarize the studies on the biological functions of MCPH1 in brain size determination and in pathologies, including infertility and cancer.
Insights
Microcephalin (MCPH1) is crucial for brain development, regulating cell division to prevent microcephaly. This protein also impacts gonad development and acts as a tumor suppressor, highlighting its diverse biological roles.
Area of Science:
- Genetics
- Developmental Biology
- Oncology
Background:
- Microcephalin (MCPH1) is linked to primary microcephaly type 1, a disorder causing small brain size and intellectual disability.
- MCPH1 was initially recognized for its roles in maintaining telomere integrity and regulating the cell cycle.
Purpose of the Study:
- To review the multifaceted roles of MCPH1.
- To explore MCPH1's involvement in DNA damage response, cell cycle control, and chromatin remodeling.
- To summarize MCPH1's functions in brain development and associated pathologies like infertility and cancer.
Main Methods:
- Review of genetic and cellular studies on MCPH1.
- Analysis of research on MCPH1's involvement in neurogenesis and gonad development.
- Examination of studies investigating MCPH1's tumor suppressor functions in human cancers and mouse models.
Main Results:
- MCPH1 coordinates cell and centrosome cycles, regulating neuroprogenitor division to prevent microcephaly.
- MCPH1 influences gonad development.
- MCPH1 exhibits tumor suppressor activity in various cancers.
Conclusions:
- MCPH1 is a key regulator of neurogenesis, essential for determining brain size.
- MCPH1 plays significant roles in DNA damage response, cell cycle control, and chromatin remodeling.
- Dysregulation of MCPH1 is implicated in microcephaly, infertility, and cancer development.
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