Molecular and Biological Aspects of Microcephalin Gene: Directions in Brain Tumor and Methylation Publisher



Karami F¹ ; Mehdipour P¹ Show Affiliations
Source: Epigenetics Territory and Cancer Published:2015

Abstract

Microcephalin gene ( MCPH1) is located on chromosome 8p23.1 and initially was found to be involved in the pathogenesis of microcephaly. Its interaction with major cellular proteins especially cell cycle checkpoint molecules and DNA repair proteins demonstrated that it plays crucial roles in response to DNA damage and repair. In addition, some alterations have been detected in MCPH1 gene which led to name it as a new tumor suppressor gene. On the top, promoter methylation of MCPH1 gene and its direct effect on its protein expression has been proposed as a main mechanism of MCPH1 gene inactivation in various cancers especially brain tumors. Moreover, there are some reports that relying on the effect of MCPH1 gene mutations in development of non-cancerous diseases including neurocognitive disorders. In this chapter, at first the basics of MCPH1 gene and its protein will be described and then we will provide a brief literature of the investigations carried out on the role of MCPH1 gene alterations in various types of cancer and some other diseases. Moreover, the methylation data of our very recent research together with protein expression in brain tumors are provided. © Springer Science+Business Media Dordrecht 2015.