Congenital microcephaly

Alcantara, Diana and O'Driscoll, Mark (2014) Congenital microcephaly. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 166 (2). pp. 124-139. ISSN 1552-4868

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Abstract

The underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and characterization of novel genetic causes of congenital microcephaly, there has been a consolidation and emergence of certain themes concerning underlying pathomechanisms. These include abnormal mitotic microtubule spindle structure, numerical and structural abnormalities of the centrosome, altered cilia function, impaired DNA repair, DNA Damage Response signaling and DNA replication, along with attenuated cell cycle checkpoint proficiency. Many of these processes are highly interconnected. Interestingly, a defect in a gene whose encoded protein has a canonical function in one of these processes can often have multiple impacts at the cellular level involving several of these pathways. Here, we overview the key pathomechanistic themes underlying profound congenital microcephaly, and emphasize their interconnected nature.

Item Type: Article
Keywords: cell division; mitosis; DNA replication; cilia
Schools and Departments: School of Life Sciences > Sussex Centre for Genome Damage and Stability
Subjects: Q Science > QD Chemistry > QD0241 Organic chemistry > QD0415 Biochemistry
Depositing User: Gee Wheatley
Date Deposited: 16 May 2014 06:06
Last Modified: 07 Mar 2017 07:51
URI: http://sro.sussex.ac.uk/id/eprint/48646

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