Nonsyndromic Deafness DFNA1 Associated with Mutation of a Human Homolog of the Drosophila Gene diaphanous
- 14 November 1997
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 278 (5341) , 1315-1318
- https://doi.org/10.1126/science.278.5341.1315
Abstract
The gene responsible for autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive hearing loss in a large Costa Rican kindred was previously localized to chromosome 5q31 and named DFNA1 . Deafness in the family is associated with a protein-truncating mutation in a human homolog of the Drosophila gene diaphanous . The truncation is caused by a single nucleotide substitution in a splice donor, leading to a four–base pair insertion in messenger RNA and a frameshift. The diaphanous protein is a profilin ligand and target of Rho that regulates polymerization of actin, the major component of the cytoskeleton of hair cells of the inner ear.Keywords
This publication has 31 references indexed in Scilit:
- Drosophila-related expressed sequencesHuman Molecular Genetics, 1997
- Actin cytoskeleton: Are FH proteins local organizers?Current Biology, 1997
- Mutations in the myosin VIIA gene cause non-syndromic recessive deafnessNature Genetics, 1997
- Mapping of DFN2 to Xq22Human Molecular Genetics, 1996
- Genes responsible for human hereditary deafness: symphony of a thousandNature Genetics, 1996
- Genetic Evidence That Formins Function within the NucleusPublished by Elsevier ,1996
- Genetics of deafnessCurrent Opinion in Neurobiology, 1996
- Defective myosin VIIA gene responsible for Usher syndrome type IBNature, 1995
- Basic local alignment search toolJournal of Molecular Biology, 1990
- Actin filaments in sensory hairs of inner ear receptor cells.The Journal of cell biology, 1977