Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa-Reference-Cited by-同舟云学术

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

Published:1998-06-12 Issue:5370 Volume:280 Page:1753-1757
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Eudy James D.¹²³⁴⁵,Weston Michael D.¹²³⁴⁵,Yao SuFang¹²³⁴⁵,Hoover Denise M.¹²³⁴⁵,Rehm Heidi L.¹²³⁴⁵,Ma-Edmonds Manling¹²³⁴⁵,Yan Denise¹²³⁴⁵,Ahmad Iqbal¹²³⁴⁵,Cheng Jason J.¹²³⁴⁵,Ayuso Carmen¹²³⁴⁵,Cremers Cor¹²³⁴⁵,Davenport Sandra¹²³⁴⁵,Moller Claes¹²³⁴⁵,Talmadge Catherine B.¹²³⁴⁵,Beisel Kirk W.¹²³⁴⁵,Tamayo Marta¹²³⁴⁵,Morton Cynthia C.¹²³⁴⁵,Swaroop Anand¹²³⁴⁵,Kimberling William J.¹²³⁴⁵,Sumegi Janos¹²³⁴⁵

Affiliation:

1. J. D. Eudy, S. F. Yao, M. Ma-Edmonds, J. J. Cheng, C. B. Talmadge, J. Sumegi, Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198, USA.

2. M. D. Weston, D. M. Hoover, K. W. Beisel, W. J. Kimberling, Department of Genetics, Boystown National Research Hospital, Omaha, NE 68131, USA.

3. H. L. Rehm, Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.

4. D. Yan and A. Swaroop, Department of Ophthalmology, W. K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI 48105, USA.

5. I. Ahmad, Department of Cell Biology and Anatomy, University of Nebraska Medical Center, Omaha, NE 68198, USA.

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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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