| | |  | | | | Record from Web of Science® | | | | | | |
| Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous |
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| Author(s): Lynch ED, Lee MK, Morrow JE, Welcsh PL, Leon PE, King MC |
| Source: SCIENCE Volume: 278 Issue: 5341 Pages: 1315-1318 Published: NOV 14 1997 |
| Times Cited: 196 References: 39 |
| 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: Lynch, ED (reprint author), UNIV WASHINGTON, DEPT MED, SEATTLE, WA 98195 USA |
Addresses:
1. UNIV WASHINGTON, DEPT GENET, SEATTLE, WA 98195 USA
2. UNIV COSTA RICA, SCH MED, SAN JOSE, COSTA RICA
3. UNIV COSTA RICA, CTR RES CELLULAR & MOL BIOL, SAN JOSE, COSTA RICA |
| Publisher: AMER ASSOC ADVANCEMENT SCIENCE, 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: YG043 |
| ISSN: 0036-8075 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |