Publication Date:
1997-11-21
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lynch, E D -- Lee, M K -- Morrow, J E -- Welcsh, P L -- Leon, P E -- King, M C -- R01-DC01076/DC/NIDCD NIH HHS/ -- New York, N.Y. -- Science. 1997 Nov 14;278(5341):1315-8.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Medicine, University of Washington, Seattle, WA 98195, USA. eric@lynch.com〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/9360932" target="_blank"〉PubMed〈/a〉
Keywords:
Actins/*metabolism
;
*Adaptor Proteins, Signal Transducing
;
Amino Acid Sequence
;
Animals
;
Base Sequence
;
Carrier Proteins/chemistry/*genetics/physiology
;
Chromosome Mapping
;
Chromosomes, Human, Pair 5
;
Cochlea/metabolism
;
*Contractile Proteins
;
Deafness/*genetics/metabolism/pathology
;
Drosophila/genetics
;
*Drosophila Proteins
;
Female
;
Frameshift Mutation
;
GTP-Binding Proteins/metabolism
;
Gene Expression
;
Hair Cells, Auditory/*metabolism/ultrastructure
;
Humans
;
Male
;
Microfilament Proteins/metabolism
;
Molecular Sequence Data
;
Pedigree
;
Profilins
;
RNA Splicing
;
RNA, Messenger/genetics/metabolism
;
X Chromosome
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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