与MSH6相关的错配修复缺陷
中文名称
通路描述
MSH6编码一种由位于染色体2上与同源hMSH2基因附近1百万碱基对内的相关hMSH2基因编码的G/T错配结合蛋白。与其他错配修复基因不同，MSH6缺陷细胞主要显示单核苷酸条带的改变，表明MSH6在维持人类基因组完整性中的作用。MSH6缺陷细胞积累重复核苷酸条带的突变。MSH6缺陷比MLH1和MSH2缺陷少见。它们主要在非息肉病性结直肠癌家族中观察到，其特征为肿瘤发病年龄较早、家族肿瘤发展史较弱、微卫星不稳定性（MSI）程度较低，且主要涉及单核苷酸连续序列。
英文描述
Defective Mismatch Repair Associated With MSH6 MSH6 encodes a G/T mismatch-binding protein encoded by a gene localized to within 1 megabase of the related hMSH2 gene on chromosome 2. Unlike other mismatch repair genes, the MSH6 deficient cells showed alterations primarily in mononucleotide tracts, indicating the role MSH6 plays in maintaining the integrity of the human genome. Cells deficient in MSH6, accrue mutations in tracts of repeated nucleotides. MSH6 defects seem to be less common than MLH1 and MSH2 defects. They have been mostly observed in atypical HNPCC families and are characterized by a weaker family history of tumor development, higher age at disease onset, and low degrees of microsatellite instability (MSI) that predominantly involving mononucleotide runs.
所含基因
1 个基因