Germ-line epimutations and human cancer
10.3321/j.issn:1000-467X.2009.12.002
- VernacularTitle:胚系表观突变与人类肿瘤
- Author:
Wu PU-YUAN
1
;
Fan YI-MEI
;
Wang YA-PING
Author Information
1. 南京大学医学院
- Keywords:
germ-line epimutation;
tumor suppressor gene;
hypermethylation;
MLH1
- From:Chinese Journal of Cancer
2009;28(12):1236-1242
- CountryChina
- Language:Chinese
-
Abstract:
Epimutations are errors in the normal process of epigenetic regulation which can result in aberrant transcriptional silencing of a normally active gene or reactivation of a normally silent gene.Epimutations are generally considered to be somatic events and to be confined in affected tissues.However, recent studies of patients with hereditary nonpolyposis colorectal cancer(HNPCC) have showed that allele-specific hypermethylation of CpG islands in the promoter region of the MLH1 gene, one of the causes of the tumor,existed in all the tissues examined.In addition,germ-line epimutations of other tumor suppressor genes(TSGs),such as MSH2 and BRCA1,have also been reported,demonstrating that epimutations might arise in the germline(during gametogenesis or early embryonic development).The role of germ-line epimutations might be as important as germ-line mutations in human disease.We reviewed the update on germ-line epimutations of TSGs including the possible mechanisms underlying germ-line epimutations,the possibility of transgenerational inheritance.and their impact on our understanding of human disease.
