Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa

J D Eudy; M D Weston; S Yao; D M Hoover; H L Rehm; M Ma-Edmonds; D Yan; I Ahmad; J J Cheng; C Ayuso; C Cremers; S Davenport; C Moller; C B Talmadge; K W Beisel; M Tamayo; C C Morton; A Swaroop; W J Kimberling; J Sumegi

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa

J D Eudy, M D Weston, S Yao, D M Hoover, H L Rehm, M Ma-Edmonds, D Yan, I Ahmad, J J Cheng, C Ayuso, C Cremers, S Davenport, C Moller, C B Talmadge, K W Beisel, M Tamayo, C C Morton, A Swaroop, W J Kimberling, J Sumegi

Division of Evolution, Infection and Genomics

University of Nebraska Medical Center

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	1753-7
Number of pages	5
Journal	Science
Volume	280
Issue number	5370
Publication status	Published - 12 Jun 1998

Keywords

Amino Acid Sequence
Animals
Cell Adhesion Molecules
Chromosome Mapping
Chromosomes, Human, Pair 1
Cochlea
Epidermal Growth Factor
Extracellular Matrix Proteins
Female
Fibronectins
Frameshift Mutation
Gene Expression
Genes, Recessive
Glycosylation
Hearing Loss, Sensorineural
Humans
Laminin
Male
Molecular Sequence Data
Pedigree
Retina
Retinitis Pigmentosa
Syndrome
Tumor Cells, Cultured
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Cite this

Eudy, J. D., Weston, M. D., Yao, S., Hoover, D. M., Rehm, H. L., Ma-Edmonds, M., Yan, D., Ahmad, I., Cheng, J. J., Ayuso, C., Cremers, C., Davenport, S., Moller, C., Talmadge, C. B., Beisel, K. W., Tamayo, M., Morton, C. C., Swaroop, A., Kimberling, W. J., & Sumegi, J. (1998). Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science, 280(5370), 1753-7.

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title = "Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa",

abstract = "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.",

keywords = "Amino Acid Sequence, Animals, Cell Adhesion Molecules, Chromosome Mapping, Chromosomes, Human, Pair 1, Cochlea, Epidermal Growth Factor, Extracellular Matrix Proteins, Female, Fibronectins, Frameshift Mutation, Gene Expression, Genes, Recessive, Glycosylation, Hearing Loss, Sensorineural, Humans, Laminin, Male, Molecular Sequence Data, Pedigree, Retina, Retinitis Pigmentosa, Syndrome, Tumor Cells, Cultured, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.",

author = "Eudy, {J D} and Weston, {M D} and S Yao and Hoover, {D M} and Rehm, {H L} and M Ma-Edmonds and D Yan and I Ahmad and Cheng, {J J} and C Ayuso and C Cremers and S Davenport and C Moller and Talmadge, {C B} and Beisel, {K W} and M Tamayo and Morton, {C C} and A Swaroop and Kimberling, {W J} and J Sumegi",

year = "1998",

month = jun,

day = "12",

language = "English",

volume = "280",

pages = "1753--7",

journal = "Science",

issn = "0036-8075",

publisher = "American Association for the Advancement of Science (A A A S)",

number = "5370",

}

Eudy, JD, Weston, MD, Yao, S, Hoover, DM, Rehm, HL, Ma-Edmonds, M, Yan, D, Ahmad, I, Cheng, JJ, Ayuso, C, Cremers, C, Davenport, S, Moller, C, Talmadge, CB, Beisel, KW, Tamayo, M, Morton, CC, Swaroop, A, Kimberling, WJ & Sumegi, J 1998, 'Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa', Science, vol. 280, no. 5370, pp. 1753-7.

TY - JOUR

T1 - Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa

AU - Eudy, J D

AU - Weston, M D

AU - Yao, S

AU - Hoover, D M

AU - Rehm, H L

AU - Ma-Edmonds, M

AU - Yan, D

AU - Ahmad, I

AU - Cheng, J J

AU - Ayuso, C

AU - Cremers, C

AU - Davenport, S

AU - Moller, C

AU - Talmadge, C B

AU - Beisel, K W

AU - Tamayo, M

AU - Morton, C C

AU - Swaroop, A

AU - Kimberling, W J

AU - Sumegi, J

PY - 1998/6/12

Y1 - 1998/6/12

N2 - 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.

AB - 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.

KW - Amino Acid Sequence

KW - Animals

KW - Cell Adhesion Molecules

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 1

KW - Cochlea

KW - Epidermal Growth Factor

KW - Extracellular Matrix Proteins

KW - Female

KW - Fibronectins

KW - Frameshift Mutation

KW - Gene Expression

KW - Genes, Recessive

KW - Glycosylation

KW - Hearing Loss, Sensorineural

KW - Humans

KW - Laminin

KW - Male

KW - Molecular Sequence Data

KW - Pedigree

KW - Retina

KW - Retinitis Pigmentosa

KW - Syndrome

KW - Tumor Cells, Cultured

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

KW - Research Support, U.S. Gov't, P.H.S.

M3 - Article

C2 - 9624053

SN - 0036-8075

VL - 280

SP - 1753

EP - 1757

JO - Science

JF - Science

IS - 5370

ER -

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa

Abstract

Keywords

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