Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous
| Autor: | E D, Lynch, M K, Lee, J E, Morrow, P L, Welcsh, P E, León, M C, King |
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| Rok vydání: | 1997 |
| Předmět: |
Male
X Chromosome RNA Splicing Molecular Sequence Data Formins Gene Expression Deafness Profilins Contractile Proteins GTP-Binding Proteins Hair Cells Auditory Animals Drosophila Proteins Humans Amino Acid Sequence RNA Messenger Frameshift Mutation Adaptor Proteins Signal Transducing Base Sequence Microfilament Proteins Chromosome Mapping Actins Cochlea Pedigree Chromosomes Human Pair 5 Drosophila Female Carrier Proteins |
| Zdroj: | Science (New York, N.Y.). 278(5341) |
| ISSN: | 0036-8075 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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