Mouse Homolog of the Human TP53 R337H Mutation Reveals Its Role in Tumorigenesis.

ABSTRACT: Inheritance of germline mutations in the tumor suppressor gene TP53 causes Li-Fraumeni syndrome (LFS), a cancer predisposition disorder. The arginine to histidine substitution at amino acid position 337 of p53 (R337H) is a founder mutation highly prevalent in southern and southeastern Brazil and is considered an LFS mutation. Although this mutation is of significant clinical interest, its role in tumorigenesis using animal models has not been described. Here, we generate a knockin mouse model containing the homologous R337H mutation (mouse R334H). De novo tumorigenesis was not significantly increased in either heterozygous (p53^334R/H ) or homozygous (p53^334H/H ) p53 R334H knockin mice compared with wild-type mice. However, susceptibility to

SUBMITTER: Park JH 

PROVIDER: S-EPMC6139041 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature