Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa

Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps to the long arm of human chromosome 1q41 between markers AFM268ZD1 and AFM144XF2. Three biologically important mutations in...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 1998-06, Vol.280 (5370), p.1753-1757
Main Authors: Eudy, James D., Weston, Michael D., Yao, SuFang, Hoover, Denise M., Rehm, Heidi L., Ma-Edmonds, Manling, Yan, Denise, Ahmad, Iqbal, Cheng, Jason J., Ayuso, Carmen, Cremers, Cor, Davenport, Sandra, Moller, Claes, Talmadge, Catherine B., Beisel, Kirk W., Tamayo, Marta, Morton, Cynthia C., Swaroop, Anand, Kimberling, William J., Sumegi, Janos
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Amino acids
Animals
Biological and medical sciences
Blindness
Cell Adhesion Molecules - chemistry
Chromosome Mapping
Chromosomes, Human, Pair 1
Cochlea - chemistry
Coding
Complementary DNA
Deafness
Developed Nations
Epidermal Growth Factor - chemistry
Extracellular Matrix Proteins - chemistry
Extracellular Matrix Proteins - genetics
Extracellular Matrix Proteins - physiology
Female
Fibronectins - chemistry
Frameshift Mutation
Gels
Gene Expression
Genes
Genes, Recessive
Genetic aspects
Genetic disorders
Genetic mutation
Genomics
Glycosylation
Hearing disorders
Hearing Impairments
Hearing Loss, Sensorineural - genetics
Humans
Laminin - chemistry
Libraries
Male
Medical sciences
Medicin
Medicine
Molecular Sequence Data
Mutation
Open reading frames
Ophthalmology
Patients
Pedigree
Polymerase chain reaction
Proteins
Retina
Retina - chemistry
Retinitis Pigmentosa - genetics
Retinopathies
Syndrome
Tumor Cells, Cultured
Usher syndromes
Usher's syndrome
Vision disorders
Visual Impairments
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Summary:Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps to the long arm of human chromosome 1q41 between markers AFM268ZD1 and AFM144XF2. Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region. The USH2A gene encodes a protein with a predicted size of 171.5 kilodaltons that has laminin epidermal growth factor and fibronectin type III motifs; these motifs are most commonly observed in proteins comprising components of the basal lamina and extracellular matrixes and in cell adhesion molecules.
ISSN:0036-8075
1095-9203
1095-9203
DOI:10.1126/science.280.5370.1753