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Emerging roles of MCPH1: Expedition from primary microcephaly to cancer

Venkatesh, Thejaswini and Suresh, Padmanaban S (2014) Emerging roles of MCPH1: Expedition from primary microcephaly to cancer. In: EUROPEAN JOURNAL OF CELL BIOLOGY, 93 (3). pp. 98-105.

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Official URL: http://dx.doi.org/10.1016/j.ejcb.2014.01.005


Genetic mutations in microcephalinl (MCPH1) cause primary autosomal recessive microcephaly which is characterized by a marked reduction in brain size. MCPH1 encodes a centrosomal protein with three BRCT (BRCA1 C-terminal) domains. Also, it is a key regulator of DNA repair pathway and cell cycle checkpoints. Interestingly, in the past few years, many research studies have explored the role of MCPH1, a neurodevelopmental gene in several cancers and its tumor suppressor functions have been elucidated. Given the diverse new emerging roles, it becomes critical to review and summarize the multiple roles of MCPH1 that is currently lacking in the literature. In this review after systematic analysis of literature, we summarise the multiple functional roles of MCPH1 in centrosomal, DNA repair and apoptotic pathways. Additionally, we discuss the considerable efforts taken to understand the implications of MCPH1 in diseases such as primary microcephaly and its other emerging association with cancer and otitis media. The promising view is that MCPH1 has distinct roles and its clinical associations in various diseases makes it an attractive therapeutic target. (C) 2014 Elsevier GmbH. All rights reserved.

Item Type: Journal Article
Additional Information: Copyright for this article belongs to the ELSEVIER GMBH,URBAN & FISCHER VERLAG, GERMANY
Keywords: MCPH1; BRIT1; Autosomal recessive primary microcephaly; DNA repair; Cancer; Otitis media; Apoptosis; Glioblastoma; OSCC miR-27a
Department/Centre: Division of Biological Sciences > Molecular Reproduction, Development & Genetics
Date Deposited: 11 Jun 2014 10:31
Last Modified: 11 Jun 2014 10:31
URI: http://eprints.iisc.ac.in/id/eprint/49192

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