The rare nonsense mutation in p53 triggers alternative splicing to produce a protein capable of inducing apoptosis.

ABSTRACT: P53 protein is more frequently mutated in human tumours compared with the other proteins. While the majority of the p53 mutations, especially within its DNA-binding domain, lead to the loss of the wild-type function, there are accumulating data demonstrating that the p53 mutants gain tumour promoting activities; the latter triggers a revitalised interest in functional analysis of the p53 mutants. A systematic screening for p53 mutations in surgical materials from patients with glioma revealed a 378C>G mutation that creates a stop codon at the position of amino acid residue 126. The mutation eliminates the recognition site for the restriction endonuclease Sca I that allowed us to carry out RFLP analysis of DNA extracted from the clinical samples and suggests that this mutation is more frequ

SUBMITTER: Makarov EM 

PROVIDER: S-EPMC5621691 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature