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

Science

Volumn 280, Issue 5370, 1998, Pages 1753-1757

  Eudy, James D ^a   Weston, Michael D ^b   Yao, SuFang ^a   Hoover, Denise M ^b   Rehm, Heidi L ^c   Ma Edmonds, Manling ^a   Yan, Denise ^d   Ahmad, Iqbal ^e   Cheng, Jason J ^a   Ayuso, Carmen ^f   Cremers, Cor ^g   Davenport, Sandra ^h   Moller, Claes ⁱ   Talmadge, Catherine B ^a   Beisel, Kirk W ^b   Tamayo, Marta ^j   Morton, Cynthia C ^k   Swaroop, Anand ^d   Kimberling, William J ^b   Sumegi, Janos ^a  

^a UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^b BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF MICHIGAN   (United States)

^e UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^f Instituto Reina Sofía de Investigación Nefrológica   (Spain)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^h Universidad Javeriana ^*  (United States)

ⁱ LINKÖPING UNIVERSITY HOSPITAL   (Sweden)

^j PONTIFICIA UNIVERSIDAD JAVERIANA   (Colombia)

^k BRIGHAM AND WOMEN S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CELL ADHESION MOLECULE; COLLAGEN; COMPLEMENTARY DNA; CONTIG; DNA; EPIDERMAL GROWTH FACTOR; FIBRONECTIN; MYOSIN; PROTEIN; RNA; SCLEROPROTEIN;

ARTICLE; BASE PAIRING; CHROMOSOME 1Q; DNA LIBRARY; DNA SEQUENCE; EXTRACELLULAR MATRIX; GENE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PERCEPTION DEAFNESS; PHOTORECEPTOR; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE TAGGED SITE; USHER SYNDROME; YEAST ARTIFICIAL CHROMOSOME;

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;

EID: 0032511101     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.280.5370.1753     Document Type: Article

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35. Single-letter abbreviations for the amino acid residues are as follows: A, Ala; C, Cys; D, Asp; E, Glu; F, Phe; G, Gly; H, His; I, Ile; K, Lys; L, Leu; M, Met; N, Asn; P, Pro; Q, Gln; R, Arg; S, Ser; T, Thr; V, Val; W, Trp; and Y, Tyr.
36. This work was supported by a grant from NIH-NIDCD 5PO1 DC01813-05, by the Nebraska Research nitiative Fund, and by a grant from the Foundation Fighting Blindness. We extend our sincere gratitude to the patients and their families involved in the study for their assistance and cooperation. We thank M. Gillett for assistance. A.S. is a recipient of a Research to Prevent Blindness Lew R. Wasserman Merit Award and supported by EY07003 (CORE). C.C.M. is supported by the John Alden Trust and NIH-NIDCD DC03402. The retina EST was provided by the IMAGE Consortium. We thank J. Edwards for artwork and V. Wrobleski for preparation of the manuscript.