Work

Allelic Variation in TP53 and MDM2 DNA Repair Genes Constitute Genetic Risk Factors for Long-Term Survival in Allogeneic Stem Cell Transplantation

Year: 2009

Type: article

Abstract: The p53 tumor suppressor pathway plays a major role in tumor development and cell survival. Germline single nucleotide polymorphisms (SNP)s in codon 72 of TP53 (Arg72Pro; rs1042522) and in the promoter region of the ubiquitin ligase MDM2 (-309; rs2279744) influence apoptotic activity in response to cellular stress. In vitro studies have demonstrated that cells homozygous for Arg72 in p53 have significantly increased apoptotic activity in response to cellular stress, while cells homozygous for Pro72 have increase in cell cycle arrest and DNA repair.

Source: Transplantation and Cellular Therapy

DOI: 10.1016/j.bbmt.2008.12.166