TDP1-dependent DNA single-strand break repair and neurodegeneration

被引:53
作者
El-Khamisy, Sherif F. [1 ]
Caldecott, Keith W.
机构
[1] Univ Sussex, Genome Damage & Stabil Ctr, Brighton BN1 9RQ, E Sussex, England
[2] Ain Shams Univ, Fac Pharm, Dept Biochem, Cairo, Egypt
基金
英国医学研究理事会;
关键词
D O I
10.1093/mutage/gel024
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
DNA single-strand breaks (SSBs) are the commonest DNA lesions that arise spontaneously in living cells. Cells employ efficient processes for the rapid repair of these breaks and defects in these processes appear to preferentially impact on the nervous system, causing human ataxia. Spinocerebellar ataxia with axonal neuropathy (SCAN1) is a human disease that is associated with a defect in repairing certain types of SSBs. Although it is a rare neurodegenerative disease, understanding the molecular basis of SCAM will lead to better understanding of the mechanisms that underpin not only neurodegeneration but also cancer.
引用
收藏
页码:219 / 224
页数:6
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