Functional characterization ofMLH1misn
variants identified in lynch syndrome patients
期刊名称： Human Mutation
作者：
Sofie,Dabros,Andern,Sascha,Emilie,Liberti,Anne,Lützen,Mark,Drost,Inge,Bernstein,Mef,Nilbert,Mev,Do
年份： 2012年
出嫁的女儿回娘家期号： 第12期
家访记录表关键词： Lynch syndrome;mismatch repair;functional assay;MLH1
摘要：Germline mutations in the human DNA mismatch repair (MMR) genes MSH2 and
MLH1 are associated with the inherited cancer disorder Lynch syndrome (LS), also known传不习乎
as hereditary nonpolyposis colorectal cancer or HNPCC. A proportion of MSH2 and
MLH1 mutations found in suspected LS patients give ri to single amino acid
substitutions. The functional conquences in regard to pathogenicity of many of the
小王子梗概variants are unclear. We have examined the functionality of a panel of MLH1 misn
mutations found in LS families, by testing the variant proteins in functional assays,
addressing subcellular localization, and protein–protein interaction with the dimer
partner PMS2 and the MMR-associated exonuclea 1. We show that a significant
世界的英文
proportion of examined variant proteins have functional defects in either subcellular
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