ArticleAmerican journal of human genetics2003
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 108 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
108 citing papers in PubMed, 1 synthesis or guideline pooled it, 201 citations in OpenAlex.
- Prevalence of Cytoplasmic Actin Mutations in Diffuse Large B-Cell Lymphoma and Multiple Myeloma: A Functional Assessment Based on Actin Three-Dimensional Structures.International journal of molecular sciences · 2020Pooled it
- Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.PloS one · 2016Trial
- Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes.Genetic testing and molecular biomarkers · 2015Trial
- Review
- Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.American journal of human genetics · 2026Article
- A Novel Mutation in ACTG1 as the Probable Cause of Nonsyndromic Hearing Loss in Chinese Han Population.Neural plasticity · 2026Article
- Molecular mechanisms of hotspot variants in cytoskeletal β-actin associated with Baraitser-Winter syndrome.The FEBS journal · 2025Article
- Article
- The complete absence of cytoplasmic γ-actin results in no discernible phenotype in mice or primary fibroblasts.The FEBS journal · 2025Article
- OSBPL2 deficiency inhibits Rho/ROCK2/p-ERM signaling and impairs actin cytoskeletal regulation in auditory cells.Journal of biomedical research · 2025Article
- Therapeutic restoration of miR-96 prevents hearing loss in mice through modulation of noise-induced and genetic pathways.iScience · 2025Article
- A feedback circuitry involving γ-actin, β-actin and nonmuscle myosin-2 A controls tight junction and apical cortex mechanics.Nature communications · 2025Article
- Structural and functional mechanisms of actin isoforms.The FEBS journal · 2025Review
- Extreme Phenotypic Variability ofAdvanced genetics (Hoboken, N.J.) · 2024Article
- Naa80 is required for actin N-terminal acetylation and normal hearing in zebrafish.Life science alliance · 2024Article
- Development and validation of biomarkers related to anoikis in liver cirrhosis based on bioinformatics analysis.World journal of hepatology · 2024Article
- Proteins required for stereocilia elongation during mammalian hair cell development ensure precise and steady heights during adult life.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Cingulin-nonmuscle myosin interaction plays a role in epithelial morphogenesis and cingulin nanoscale organization.Journal of cell science · 2024Article
- Article
- Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.Journal of clinical medicine · 2024Review
48 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
Age-related hearing loss (presbycusis) is a significant problem in the population. The genetic contribution to age-related hearing loss is estimated to be 40%-50%. Gene mutations that cause nonsyndromic progressive hearing loss with early onset may provide insight into the etiology of presbycusis. We have identified four families segregating an autosomal dominant, progressive, sensorineural hearing loss phenotype that has been linked to chromosome 17q25.3. The critical interval containing the causative gene was narrowed to approximately 2 million bp between markers D17S914 and D17S668. Cochlear-expressed genes were sequenced in affected family members. Sequence analysis of the gamma-actin gene (ACTG1) revealed missense mutations in highly conserved actin domains in all four families. These mutations change amino acids that are conserved in all actins, from protozoa to mammals, and were not found in >100 chromosomes from normal hearing individuals. Much of the specialized ultrastructural organization of the cells in the cochlea is based on the actin cytoskeleton. Many of the mutations known to cause either syndromic or nonsyndromic deafness occur in genes that interact with actin (e.g., the myosins, espin, and harmonin). The mutations we have identified are in various binding domains of actin and are predicted to mildly interfere with bundling, gelation, polymerization, or myosin movement and may cause hearing loss by hindering the repair or stability of cochlear cell structures damaged by noise or aging. This is the first description of a mutation in cytoskeletal, or nonmuscle, actin.
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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.