MUTYH是抑癌基因,编码蛋白是一种DNA糖基化酶,可介导碱基切除修复。由于氧化损伤,MUTYH可以修复氧化鸟嘌呤与腺嘌呤错配的DNA损伤,修复这些病变可防止GC转为TA的颠换。MUTYH的胚系突变导致以隐性方式遗传的结肠息肉病和腺瘤,并增加了胶质瘤和乳腺癌的患病风险。
MUTYH is a DNA glycosylase that mediates base excision repair. MUTYH can repair DNA lesions in which oxidized guanine is mispaired with adenine due to oxidative damage. Repair of these lesions prevents GC to TA transversions. Germline mutations in MUTYH lead to colorectal polyposis and adenomas that are inherited in a recessive fashion and an increased risk of gliomas and breast cancer.
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