ArticleHuman molecular genetics2010
The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice.
Article in Human molecular genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 72 citations in OpenAlex.
- Clinical and Genetic Characterization of Gap Junction Protein β-6 Variants in Non-Syndromic Hearing Loss: A Case Report with Familial Evaluation andIranian journal of medical sciences · 2026Article
- Recent Progress in Mechanism-Based Therapies forInternational journal of molecular sciences · 2026Review
- Mechanisms driving the functional maturation of the developing mammalian auditory pathway.Current topics in developmental biology · 2025Review
- An Ala/Glu difference in E1 of Cx26 and Cx30 contributes to their differential anionic permeabilities.The Journal of general physiology · 2024Article
- Priming central sound processing circuits through induction of spontaneous activity in the cochlea before hearing onset.Trends in neurosciences · 2024Review
- Connexin Mutations and Hereditary Diseases.International journal of molecular sciences · 2022Review
- The CleLife · 2022Article
- Failure Of Hearing Acquisition in Mice With Reduced Expression of Connexin 26 Correlates With the Abnormal Phasing of Apoptosis Relative to Autophagy and Defective ATP-Dependent CaFrontiers in cellular neuroscience · 2022Article
- Axon-glia interactions in the ascending auditory system.Developmental neurobiology · 2021Review
- Purinergic Modulation of Activity in the Developing Auditory Pathway.Neuroscience bulletin · 2020Review
- Cisplatin-induced ototoxicity in organotypic cochlear cultures occurs independent of gap junctional intercellular communication.Cell death & disease · 2020Article
- Neuronal Activity Drives Astroglial Connexin 30 in Perisynaptic Processes and Shapes Its Functions.Cerebral cortex (New York, N.Y. : 1991) · 2020Article
- miRNA and mRNA Profiling Links Connexin Deficiency to Deafness via Early Oxidative Damage in the MouseFrontiers in cell and developmental biology · 2020Article
- Inner Ear Connexin Channels: Roles in Development and Maintenance of Cochlear Function.Cold Spring Harbor perspectives in medicine · 2019Review
- Article
- Connexins and Disease.Cold Spring Harbor perspectives in biology · 2018Review
- Connexin 30 controls astroglial polarization during postnatal brain development.Development (Cambridge, England) · 2018Article
- A deafness mechanism of digenic Cx26 (GJB2) and Cx30 (GJB6) mutations: Reduction of endocochlear potential by impairment of heterogeneous gap junctional function in the cochlear lateral wall.Neurobiology of disease · 2017Article
- Molecular composition and distribution of gap junctions in the sensory epithelium of the human cochlea-a super-resolution structured illumination microscopy (SR-SIM) study.Upsala journal of medical sciences · 2017Article
- Connexin-Mediated Signaling in Nonsensory Cells Is Crucial for the Development of Sensory Inner Hair Cells in the Mouse Cochlea.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017Article
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Authors and funding
14 authors at 3 institutions in 3 countries.
Funding
Abstract
Mutations in the GJB2 and GJB6 genes, respectively, coding for connexin26 (Cx26) and connexin30 (Cx30) proteins, are the most common cause for prelingual non-syndromic deafness in humans. In the inner ear, Cx26 and Cx30 are expressed in different non-sensory cell types, where they largely co-localize and may form heteromeric gap junction channels. Here, we describe the generation and characterization of a mouse model for human bilateral middle/high-frequency hearing loss based on the substitution of an evolutionarily conserved threonine by a methionine residue at position 5 near the N-terminus of Cx30 (Cx30T5M). The mutation was inserted in the mouse genome by homologous recombination in mouse embryonic stem cells. Expression of the mutated Cx30T5M protein in these transgenic mice is under the control of the endogenous Cx30 promoter and was analysed via activation of the lacZ reporter gene. When probed by auditory brainstem recordings, Cx30(T5M/T5M) mice exhibited a mild, but significant increase in their hearing thresholds of about 15 dB at all frequencies. Immunolabelling with antibodies to Cx26 or Cx30 suggested normal location of these proteins in the adult inner ear, but western blot analysis showed significantly down-regulated the expression levels of Cx26 and Cx30. In the developing cochlea, electrical coupling, probed by dual patch-clamp recordings, was normal. However, transfer of the fluorescent tracer calcein between cochlear non-sensory cells was reduced, as was intercellular Ca(2+) signalling due to spontaneous ATP release from connexin hemichannels. Our findings link hearing loss to decreased biochemical coupling due to the point-mutated Cx30 in mice.
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