ArticleHuman molecular genetics2015
ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- A Systematic Review of Genes Affecting Endocochlear Potential.Journal of the Association for Research in Otolaryngology : JARO · 2026Pooled it
- Study on gene expression in stomach at different developmental stages of human embryos.Frontiers in cell and developmental biology · 2025Article
- The roles of different gene expression regulators in acoustic variation in the intermediate horseshoe bat revealed by long-read and short-read RNA sequencing data.Current zoology · 2024Article
- Novel compound heterozygous variants in MARVELD2 causing autosomal recessive hearing loss in two Chinese families.Molecular genetics & genomic medicine · 2024Article
- Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse.EMBO molecular medicine · 2023Article
- Combined AAV-mediated gene replacement therapy improves auditory function in a mouse model of human DFNB42 deafness.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Alternative splicing in shaping the molecular landscape of the cochlea.Frontiers in cell and developmental biology · 2023Review
- Article
- ILDR1 promotes influenza A virus replication through binding to PLSCR1.Scientific reports · 2022Article
- Article
- Angulin-1 seals tricellular contacts independently of tricellulin and claudins.The Journal of cell biology · 2021Article
- Assessment of auditory and vestibular damage in a mouse model after single and triple blast exposures.Hearing research · 2021Article
- Mouse Models of Human Pathogenic Variants ofGenes · 2020Article
- The extracellular domain of angulin-1 and palmitoylation of its cytoplasmic region are required for angulin-1 assembly at tricellular contacts.The Journal of biological chemistry · 2020Article
- Growth factor and receptor malfunctions associated with human genetic deafness.Clinical genetics · 2020Review
- Striatin Is Required for Hearing and Affects Inner Hair Cells and Ribbon Synapses.Frontiers in cell and developmental biology · 2020Article
- Apoptotic Fragmentation of Tricellulin.International journal of molecular sciences · 2019Article
- ZO-2 Is a Master Regulator of Gene Expression, Cell Proliferation, Cytoarchitecture, and Cell Size.International journal of molecular sciences · 2019Review
- Pou4f1 Defines a Subgroup of Type I Spiral Ganglion Neurons and Is Necessary for Normal Inner Hair Cell Presynaptic CaThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing.JCI insight · 2019Article
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Authors and funding
15 authors at 8 institutions in 3 countries.
Funding
Abstract
In the mammalian inner ear, bicellular and tricellular tight junctions (tTJs) seal the paracellular space between epithelial cells. Tricellulin and immunoglobulin-like (Ig-like) domain containing receptor 1 (ILDR1, also referred to as angulin-2) localize to tTJs of the sensory and non-sensory epithelia in the organ of Corti and vestibular end organs. Recessive mutations of TRIC (DFNB49) encoding tricellulin and ILDR1 (DFNB42) cause human nonsyndromic deafness. However, the pathophysiology of DFNB42 deafness remains unknown. ILDR1 was recently reported to be a lipoprotein receptor mediating the secretion of the fat-stimulated cholecystokinin (CCK) hormone in the small intestine, while ILDR1 in EpH4 mouse mammary epithelial cells in vitro was shown to recruit tricellulin to tTJs. Here we show that two different mouse Ildr1 mutant alleles have early-onset severe deafness associated with a rapid degeneration of cochlear hair cells (HCs) but have a normal endocochlear potential. ILDR1 is not required for recruitment of tricellulin to tTJs in the cochlea in vivo; however, tricellulin becomes mislocalized in the inner ear sensory epithelia of ILDR1 null mice after the first postnatal week. As revealed by freeze-fracture electron microscopy, ILDR1 contributes to the ultrastructure of inner ear tTJs. Taken together, our data provide insight into the pathophysiology of human DFNB42 deafness and demonstrate that ILDR1 is crucial for normal hearing by maintaining the structural and functional integrity of tTJs, which are critical for the survival of auditory neurosensory HCs.
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