The genetics of the hereditary xeroderma pigmentosum syndrome

被引:66
作者
Stary, A [1 ]
Sarasin, A [1 ]
机构
[1] CNRS, UPR 2169, Lab Genet Instabil, F-94800 Villejuif, France
关键词
xeroderma pigmentosum; ultraviolet rays; cancer; nucleotide excision repair; translesion synthesis;
D O I
10.1016/S0300-9084(01)01358-X
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
All living organisms are constantly exposed to endogenous or exogenous agents that can cause damage to the genomic DNA, leading to the loss of stable genetic information. Fortunately, all cells are equipped with numerous classes of DNA repair pathways which are able to correct many kinds of DNA damage such as bulky adducts, oxidative lesions, single- and double-strand breaks and mismatches. The importance of these DNA repair processes is attested by the existence of several rare but dramatic hereditary diseases caused by defects in one of these repair pathways. These diseases are usually associated with early onset of malignancies confirming the direct relationship between unrepaired DNA lesions, mutations or chromosomal modifications and cancer incidence. Among these hereditary diseases the UV-hypersensitive ones have been particularly well studied and the xeroderma pigmentosum (XP) is probably the best known syndrome up to now in terms of genetics and biochemistry. (C) 2002 Societe francaise de biochimie et biologie moleculaire / Editions scientifiques et medicales Elsevier SAS.
引用
收藏
页码:49 / 60
页数:12
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