ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2009
A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosome transport in retinal pigment epithelial cells.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2009. 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, 36 citations in OpenAlex.
- Genetic Diagnosis of Non-Syndromic Hearing Loss in South Indian Consanguineous Families Using Whole-Exome Sequencing.Medicina (Kaunas, Lithuania) · 2026Article
- Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.Cellular and molecular life sciences : CMLS · 2026Article
- Dysregulated Polarized Secretion of Small Extracellular Vesicles in the Retinal Pigment Epithelium: Mechanisms and Pathological Roles in Age-Related Macular Degeneration.Journal of inflammation research · 2026Review
- Identification of candidate biomarkers for NAFLD through bioinformatics analysis and machine learning based on circulating insulin degradation-associated genes.Frontiers in endocrinology · 2026Article
- Case Report: A family of fluctuating cystoid macular edema caused byFrontiers in medicine · 2025Article
- Current approaches for Usher syndrome disease models and developing therapies.Frontiers in cell and developmental biology · 2025Review
- Whole-exome sequencing reveals genetic variants that may play a role in neurocytomas.Journal of neuro-oncology · 2024Article
- Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B.Vision research · 2023Article
- Review
- Usher Syndrome: Genetics of a Human Ciliopathy.International journal of molecular sciences · 2021Review
- Homology modeling and global computational mutagenesis of human myosin VIIa.Journal of analytical & pharmaceutical research · 2021Article
- FERM domain-containing protein 6 identifies a subpopulation of varicose nerve fibers in different vertebrate species.Cell and tissue research · 2020Article
- Aberrant Splicing Events Associated toGenes · 2019Article
- Usherin defects lead to early-onset retinal dysfunction in zebrafish.Experimental eye research · 2018Article
- The shaker-1 mouse myosin VIIa deafness mutation results in a severely reduced rate of the ATP hydrolysis step.The Journal of biological chemistry · 2018Article
- TRPV6, TRPM6 and TRPM7 Do Not Contribute to Hair-Cell Mechanotransduction.Frontiers in cellular neuroscience · 2018Article
- Genetic screening revealed usher syndrome in a paediatric Chinese patient.Hearing, balance and communication · 2017Article
- The Time Course of Deafness and Retinal Degeneration in a Kunming Mouse Model for Usher Syndrome.PloS one · 2016Article
- New treatment options for hearing loss.Nature reviews. Drug discovery · 2015Review
- Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.Molecular biology reports · 2014Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
Abstract
Mutations in the head and tail domains of the motor protein myosin VIIA (MYO7A) cause deaf-blindness (Usher syndrome type 1B, USH1B) and nonsyndromic deafness (DFNB2, DFNA11). The head domain binds to F-actin and serves as the MYO7A motor domain, but little is known about the function of the tail domain. In a genetic screen, we have identified polka mice, which carry a mutation (c.5742 + 5G > A) that affects splicing of the MYO7A transcript and truncates the MYO7A tail domain at the C-terminal FERM domain. In the inner ear, expression of the truncated MYO7A protein is severely reduced, leading to defects in hair cell development. In retinal pigment epithelial (RPE) cells, the truncated MYO7A protein is expressed at comparative levels to wild-type protein but fails to associate with and transport melanosomes. We conclude that the C-terminal FERM domain of MYO7A is critical for melanosome transport in RPE cells. Our findings also suggest that MYO7A mutations can lead to tissue-specific effects on protein levels, which may explain why some mutations in MYO7A lead to deafness without retinal impairment.
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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.