Article
The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity.
Molecular and cellular biology - 1 Nov 2003
Weiss Sigal, Gottfried Irit, Mayrose Itay, Khare Suvarna L, Xiang Mengqing, Dawson Sally J, Avraham Karen B
Abstract excerpt
A mutation in the POU4F3 gene (BRN-3.1, BRN3C) is responsible for DFNA15 (MIM 602459), autosomal-dominant nonsyndromic hearing loss. POU4F3 is a member of the POU family of transcription factors and is essential for inner-ear hair cell maintenance. To test the potential effects of the human POU4F3 mutation, we performed a series of experiments in cell culture to mimic the human mutation. Mutant POU4F3 loses most...
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