Deafness, Autosomal Dominant 5 (DFNA5)

DFNA5 is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene.ICERE1 had been identified in a differential display study comparing estrogen receptor-positive and estrogen receptor-negative breast carcinomas. The expression of DNFA5 was activated by endogenous p53 in response to various cellular stresses. Sequence analysis and ChIP assays revealed a p53-binding motif in intron 1 of the DFNA5 gene. p53-dependent expression of Dfna5 was observed in the brain and colon in the absence of DNA damage, but the expression of Dfna5 in other tissues was independent of p53 expression. Immunostaining of DFNA5-transfected cells revealed expression predominantly in the cytoplasm, with a subset of cells in the nucleus.