The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damage

J Hum Genet. 2006;51(8):652-664. doi: 10.1007/s10038-006-0004-6. Epub 2006 Aug 2.

Abstract

The tumor suppressor p53 plays a crucial role in the cellular response to DNA damage by transcriptional activation of numerous downstream genes. Although a considerable number of p53 target genes have been reported, the precise mechanism of p53-regulated tumor suppression still remains to be elucidated. Here, we report a novel role of the DFNA5 gene in p53-mediated etoposide-induced cell death. The DFNA5 gene has been previously reported to be responsible for autosomal-dominant, nonsyndromic hearing impairment. The expression of the DFNA5 gene was strongly induced by exogenous and endogenous p53. The chromatin immunoprecipitation assay indicated that a potential p53-binding sequence is located in intron 1 of the DFNA5 gene. Furthermore, the reporter gene assay revealed that the sequence displays p53-dependent transcriptional activity. The ectopic expression of DFNA5 enhanced etoposide-induced cell death in the presence of p53; however, it was inhibited in the absence of p53. Finally, the expression of DFNA5 mRNA was remarkably induced by gamma-ray irradiation in the colon of p53(+/+) mice but not in that of p53(-/-) mice. These results suggest that DFNA5 plays a role in the p53-regulated cellular response to genotoxic stress probably by cooperating with p53.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Apoptosis / drug effects
  • Base Sequence
  • Binding Sites / drug effects
  • COS Cells
  • Chlorocebus aethiops
  • DNA Damage*
  • Etoposide / pharmacology
  • Exons / genetics
  • Gene Expression Regulation, Neoplastic / drug effects
  • Genome, Human / genetics
  • Hearing Loss / genetics*
  • Humans
  • Mice
  • Microarray Analysis
  • Molecular Sequence Data
  • Protein Transport / drug effects
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Receptors, Estrogen / genetics
  • Receptors, Estrogen / metabolism*
  • Transcription, Genetic / drug effects
  • Tumor Cells, Cultured
  • Tumor Suppressor Protein p53 / metabolism*

Substances

  • GSDME protein, human
  • Gsdme protein, mouse
  • RNA, Messenger
  • Receptors, Estrogen
  • Tumor Suppressor Protein p53
  • Etoposide