Tricellulin is a tight-junction protein necessary for hearing
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The inner ear has fluid-filled compartments of different ionic compositions, including the endolymphatic and perilymphatic spaces of the organ of Corti; the separation from one another by epithelial barriers is required for normal hearing. TRIC encodes tricellulin, a recently discovered tight-junction (TJ) protein that contributes to the structure and function of tricellular contacts of neighboring cells in many epithelial tissues. We show that, in humans, four different recessive mutations of TRIC cause nonsyndromic deafness (DFNB49), a surprisingly limited phenotype, given the widespread tissue distribution of tricellulin in epithelial cells. In the inner ear, tricellulin is concentrated at the tricellular TJs in cochlear and vestibular epithelia, including the structurally complex and extensive junctions between supporting and hair cells. We also demonstrate that there are multiple alternatively spliced isoforms of TRIC in various tissues and that mutations of TRIC associated with hearing loss remove all or most of a conserved region in the cytosolic domain that binds to the cytosolic scaffolding protein ZO-1. A wild-type isoform of tricellulin, which lacks this conserved region, is unaffected by the mutant alleles and is hypothesized to be sufficient for structural and functional integrity of epithelial barriers outside the inner ear.
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Six positively selected genes were identified that conceivably evolved to increase auditory acuity over a wider range of frequencies in the carnivore ancestor and within Felidae.
“We identified six positively selected genes (Fig. 1) that conceivably evolved to increase auditory acuity over a wider range of frequencies in the carnivore ancestor and within Felidae, as mutations within each gene have been associated with autosomal, nonsyndromic deafness or hearing loss (22,23).”
From Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology and domestication (2014) · cites this paper as [22]
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- Authors
- Riazuddin, S., Ahmed, Z. M., Fanning, A. S., Lagziel, A., Kitajiri, S.-I., Ramzan, K., Khan, S. N., Chattaraj, P., Friedman, P. L., Anderson, J. M., Belyantseva, I. A., Forge, A., Riazuddin, S., & Friedman, T. B.
- Affiliations
- National Institutes of Health (US)
- University of North Carolina at Chapel Hill (US)
- University of the Punjab (PK)
- University College London (GB)
- Corresponding author
- Friedman, Thomas B.
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2006-12
- Volume
- 79
- Issue
- 6
- Pages
- 1040-1051
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1698716
- OpenAlex
- W2061724183
- Cited by
- 283
- References
- 44
- Citations by year
- 2026: 5 · 2025: 8 · 2024: 15 · 2023: 7 · 2022: 13 · 2021: 9 · 2020: 15 · 2019: 8 · 2018: 21 · 2017: 22 · 2016: 14 · 2015: 20 · 2014: 20 · 2013: 17 · 2012: 23
- FWCI
- 4.05
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- UNC Libraries
- Funders
- National Institute on Deafness and Other Communication Disorders
- National Institute of Diabetes and Digestive and Kidney Diseases (DK61397)
- Wellcome Trust
- Japan Society for the Promotion of Science
- Higher Education Commission, Pakistan (CRP/PAK02-01)
- National Institutes of Health (Z01 DC000039-08, ZO1 DC000035-08)
- Topics
- Life Sciences › Neuroscience › Sensory Systems › Hearing, Cochlea, Tinnitus, Genetics
- Life Sciences › Neuroscience › Neurology › Barrier Structure and Function Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Connexins and lens biology
- Keywords
- tricellulin, TRiC, tight junctions, non-syndromic hearing loss, recessive mutations, inner ear, organ of Corti, endolymph, perilymph, epithelial barrier function, ZO-1, alternative splicing, hair cells, supporting cells, hearing loss
- MeSH terms
- Amino Acid Sequence, Animals, Cytosol, Epithelial Cells, Female, Hearing, Humans, Intercellular Junctions, Ear, Inner, Male, Membrane Proteins, Mice, Inbred C57BL, Molecular Sequence Data, Mutation, Organ of Corti, Pedigree, Phosphoproteins, Sequence Homology, Amino Acid, Alternative Splicing, Protein Isoforms, Hearing Loss, Mice, Occludin, MARVEL Domain Containing 2 Protein, Zonula Occludens-1 Protein
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