Nouspikel T, Clarkson S G
Department of Genetics and Microbiology, Centre Médical Universitaire (CMU), Geneva, Switzerland.
Hum Mol Genet. 1994 Jun;3(6):963-7. doi: 10.1093/hmg/3.6.963.
The human XPG (ERCC5) gene encodes a large acidic protein that corrects the ultraviolet light sensitivity of cells from both xeroderma pigmentosum complementation group G and rodent ERCC group 5. Here we characterize five XPG sequence alterations and a minor splicing defect in XP-G patient XP125LO. Three of these changes are polymorphic variants whereas the remaining two, one in each XPG allele, inactivate complementation in vivo. These single point mutations provide formal proof that defects in XPG give rise to the group G form of xeroderma pigmentosum, and their locations suggest ways in which this may occur.
人类XPG（ERCC5）基因编码一种大型酸性蛋白，该蛋白可纠正着色性干皮病互补组G细胞和啮齿动物ERCC组5细胞对紫外线的敏感性。在此，我们对XP-G患者XP125LO的五个XPG序列改变和一个小的剪接缺陷进行了特征描述。其中三个变化是多态性变体，而其余两个变化，每个XPG等位基因各有一个，在体内使互补失活。这些单点突变正式证明了XPG缺陷会导致着色性干皮病的G组形式，其位置提示了可能发生这种情况的方式。
