DNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1

El-Khamisy, S F and Caldecott, K W (2007) DNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1. Neuroscience, 145 (4). pp. 1260-1266. ISSN 0306-4522

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Abstract

DNA single-strand breaks (SSBs) are the commonest DNA lesions arising spontaneously in cells, and if not repaired may block transcription or may be converted into potentially lethal/clastogenic DNA double-strand breaks (DSBs). Recently, evidence has emerged that defects in the rapid repair of SSBs preferentially impact the nervous system. In particular, spinocerebellar ataxia with axonal neuropathy (SCAN1) is a human disease that is associated with mutation of TDP1 (tyrosyl DNA phosphodiesterase 1) protein and with a defect in repairing certain types of SSBs. Although SCAN1 is a rare neurodegenerative disorder, understanding the molecular basis of this disease will lead to better understanding of neurodegenerative processes. Here we review recent progress in our understanding of TDP1, single-strand break repair (SSBR), and neurodegenerative disease.

Item Type: Article
Additional Information: GDSC229
Keywords: Animals Axons/metabolism/pathology Cell Cycle/genetics DNA/genetics *DNA Breaks, Single-Stranded DNA Repair/*genetics Genetic Predisposition to Disease/genetics Humans Phosphoric Diester Hydrolases/*genetics Spinocerebellar Ataxias/*genetics/metabolism/physiopathology Wallerian Degeneration/genetics/metabolism/physiopathology
Schools and Departments: School of Life Sciences > Sussex Centre for Genome Damage and Stability
Depositing User: Gee Wheatley
Date Deposited: 08 Oct 2007
Last Modified: 07 Mar 2017 09:12
URI: http://sro.sussex.ac.uk/id/eprint/1561
Google Scholar:24 Citations

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