Stary Anne, Sarasin Alain
Laboratory Genetic Instability UPR2169 CNRS, 7, rue Guy Moquet, 94800 Villejuif, France.
Biochimie. 2002 Jan;84(1):49-60. doi: 10.1016/s0300-9084(01)01358-x.
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 mismah. 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 their 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.
所有生物都不断暴露于内源性或外源性因素中，这些因素会对基因组DNA造成损伤，导致稳定遗传信息的丢失。幸运的是，所有细胞都具备多种DNA修复途径，能够纠正多种DNA损伤，如大的加合物、氧化损伤、单链和双链断裂以及错配。这些DNA修复过程的重要性通过几种罕见但严重的遗传性疾病得以证明，这些疾病是由其中一种修复途径的缺陷引起的。这些疾病通常与恶性肿瘤的早发有关，证实了未修复的DNA损伤、突变或染色体修饰与癌症发病率之间的直接关系。在这些遗传性疾病中，对紫外线过敏的疾病得到了特别深入的研究，就遗传学和生物化学而言，着色性干皮病（XP）可能是目前最广为人知的综合征。
