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Journal Article
Single-strand break repair and genetic disease
2008
Overview
Key Points
Single-strand breaks (SSBs) are the most common lesions arising in cells, and chromosomal single-strand break repair (SSBR) is a rapid and efficient process.
In addition to the rapid 'global' SSBR processes that remove SSBs throughout the genome and throughout interphase, there might be S-phase specific processes that operate at replication forks in conjunction with homologous recombination.
Two of the proteins that repair damaged DNA termini during global SSBR (tyrosyl-DNA phosphodiesterase 1 and aprataxin) are mutated in the hereditary genetic diseases spinocerebellar ataxia with axonal neuropathy 1 (SCAN1) and ataxia oculomotor apraxia 1 (AOA1), implicating unrepaired SSBs in progressive neurological dysfunction.
Whereas post-mitotic cells seem to be dependent on global SSBR for genetic integrity, proliferating cells can additionally use replication-coupled SSBR. This might explain why SCAN1 and AOA1 are not associated with elevated genetic instability and cancer.
Single-strand breaks are the most common type of DNA damage that arise in cells. Keith Caldecott discusses the molecular mechanisms and organization of the pathways that repair these lesions and the link between defects in these pathways and hereditary neurodegenerative disease.
Hereditary defects in the repair of DNA damage are implicated in a variety of diseases, many of which are typified by neurological dysfunction and/or increased genetic instability and cancer. Of the different types of DNA damage that arise in cells, single-strand breaks (SSBs) are the most common, arising at a frequency of tens of thousands per cell per day from direct attack by intracellular metabolites and from spontaneous DNA decay. Here, the molecular mechanisms and organization of the DNA-repair pathways that remove SSBs are reviewed and the connection between defects in these pathways and hereditary neurodegenerative disease are discussed.
Publisher
Nature Publishing Group UK,Nature Publishing Group
Subject
/ Animal Genetics and Genomics
/ Animals
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ DNA-Binding Proteins - genetics
/ DNA-Binding Proteins - physiology
/ Enzymes
/ Fundamental and applied biological sciences. Psychology
/ Genetic Diseases, Inborn - genetics
/ Humans
/ Molecular and cellular biology
/ Nerve Degeneration - genetics
/ Nuclear Proteins - physiology
/ Oculomotor Nerve Diseases - genetics
/ Phosphoric Diester Hydrolases - genetics
/ Phosphoric Diester Hydrolases - physiology
/ Proteins
/ Spinocerebellar Ataxias - genetics
/ Yeast
