ArticleMolecular and cellular biology2003
The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity.
Article in Molecular and cellular biology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 59 citations in OpenAlex.
- Trial
- Identification of a novel POU4F3 frameshift variant in a Chinese family with autosomal dominant hearing loss.European journal of medical research · 2025Article
- Functional Correlation of Two Novel Nonsense POU4F3 Mutations Causing Late-Onset Progressive Nonsyndromic Hearing Loss in DFNA15 Families.Molecular genetics & genomic medicine · 2025Article
- Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15.Scientific reports · 2025Article
- An essential signaling cascade for avian auditory hair cell regeneration.Developmental cell · 2024Article
- The transcription factorFrontiers in cellular neuroscience · 2024Article
- Ramifications of POU4F3 variants associated with autosomal dominant hearing loss in various molecular aspects.Scientific reports · 2023Article
- Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review.Biomedicines · 2023Review
- Genetic Load of Alternations of Transcription Factor Genes in Non-Syndromic Deafness and the Associated Clinical Phenotypes: Experience from Two Tertiary Referral Centers.Biomedicines · 2022Article
- POU4F3 Acts as a Tumor Suppressor in Lung Adenocarcinoma via the Endoplasmic Reticulum Stress Signaling Pathway.Journal of Cancer · 2022Article
- A MissenseBioMed research international · 2021Article
- Aldh inhibitor restores auditory function in a mouse model of human deafness.PLoS genetics · 2020Article
- Otoprotective Effect of 2,3,4',5-Tetrahydroxystilbene-2-Molecules (Basel, Switzerland) · 2020Article
- Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families.Journal of cellular and molecular medicine · 2020Article
- Article
- Four Novel Variants inNeural plasticity · 2020Article
- Computational analysis based on audioprofiles: A new possibility for patient stratification in office-based otology.Audiology research · 2019Article
- OHC-TRECK: A Novel System Using a Mouse Model for Investigation of the Molecular Mechanisms Associated with Outer Hair Cell Death in the Inner Ear.Scientific reports · 2019Article
- A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss.Scientific reports · 2017Article
- Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss.Journal of human genetics · 2017Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 3 countries.
Funding
Abstract
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 of its transcriptional activity and most of its ability to bind to DNA and does not function in a dominant-negative manner. Moreover, whereas wild-type POU4F3 is found exclusively in the nucleus, our studies demonstrate that the mutant protein is localized both to the nucleus and the cytoplasm. Two nuclear localization signals were identified; both are essential for proper nuclear entry of POU4F3 protein. We found that the mutant protein half-life is longer than that of the wild type. We propose that the combination of defects caused by the mutation on the function of the POU4F3 transcription factor eventually leads to hair cell morbidity in affected family H members.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.