Genomic structure and identification of novel mutations in Usherin, the gene responsible for usher syndrome type IIa

American Journal of Human Genetics

Volumn 66, Issue 4, 2000, Pages 1199-1210

  Weston, M D ^a   Eudy, J D ^b   Fujita, S ^c   Yao, S F ^b   Usami, S ^d   Cremers, C ^e   Greenburg, J ^f   Ramesar, R ^f   Martini, A ^g   Moller, C ^h   Smith, R J ⁱ   Sumegi, J ^b   Kimberling, William J ^a  

^a BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

^b UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^c HIROSAKI UNIVERSITY   (Japan)

^d SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^f UNIVERSITY OF CAPE TOWN   (South Africa)

^g UNIVERSITY OF FERRARA   (Italy)

^h SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

ⁱ UNIVERSITY OF IOWA HEALTH CARE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL ADHESION MOLECULE; COMPLEMENTARY DNA; EPIDERMAL GROWTH FACTOR; LAMININ;

ARTICLE; CHROMOSOME 1Q; GENE MUTATION; GENE STRUCTURE; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN DOMAIN; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; USHER SYNDROME;

EID: 0033940001     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302855     Document Type: Article

References (32)

1. Boughman JA, Vernon M, Shaver KA (1983) Usher syndrome: definition and estimate of prevalence from two high risk populations. J Chronic Dis 36:595-603
2. Chaib H, Kaplan J, Gerber S, Vincent C, Munnich A, Weissenbach J, Petit C (1997) A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. Hum Mol Genet 6:27-31
3. Colognato H, Winkelmann DA, Yurchenco PD (1999) Laminin polymerization induces a receptor-cytoskeleton network. J Cell Biol 145:619-631
4. Corpet F (1988) Multiple sequence alignment with hierarchical clustering. Nucleic Acids Res 16:10881-10890
5. Culligan KG, Mackey AJ, Finn DM, Maguire PB, Ohlendieck K (1998) Role of dystrophin isoforms and associated proteins in muscular dystrophy. Int J Mol Med 2:639-648
6. den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van Den Born LI, van Driel MA, van De Pol DJ, et al (1999) Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet 23:217-221
7. Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, Yan D, et al (1998) Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 280:1753-1757
8. Hmani M, Ghorbel A, Boulila-Elgaied A, Ben Zina Z, Kammoun W, Drira M, Chaabouni M, et al (1999) A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. Eur J Hum Genet 7:363-367
9. Ishii N, Wadsworth WG, Stern BD, Culotti JG, Hedgecock EM (1992) UNC-6, a laminin-related protein, guides cell and pioneer axon migrations in C. elegans. Neuron 9:873-881
10. Kaplan J, Gerber S, Bonneau D, Rozet JM, Delrieu O, Briard ML, Dollfus H, et al (1992) A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics 14: 979-987
11. Keats BJ, Nouri N, Pelias MZ, Deininger PL, Litt M (1994) Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11. Am J Hum Genet 54:681-686
12. Kimberling W, Smith RJ (1992) Gene mapping of the Usher syndromes. Otolaryngol Clin North Am 25:923-934
13. Kimberling WJ, Weston MD, Moller C, Davenport SL, Shugart YY, Priluck IA, Martini A, et al (1990) Localization of Usher syndrome type II to chromosome 1q. Genomics 7:245-249
14. Koch M, Olson PF, Albus A, Jin W, Hunter DD, Brunken WJ, Burgeson RE, et al (1999) Characterization and expression of the laminin γ3 chain: a novel, non-basement membrane-associated, laminin chain. J Cell Biol 145:605-618
15. Liu XZ, Hope C, Liang CY, Zou JM, Xu LR, Cole T, Mueller RF, et al (1999) A mutation (2314delG) in the Usher syndrome type IIa gene: high prevalence and phenotypic variation. Am J Hum Genet 64:1221-1225
16. Mellerio JE, Eady RA, Atherton DJ, Lake BD, McGrath JA (1998) E210K mutation in the gene encoding the β3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. Br J Dermatol 139:325-331
17. Miner JH, Patton BL, Lentz SI, Gilbert DJ, Snider WD, Jenkins NA, Copeland NG, et al (1997) The laminin α chains: expression, developmental transitions, and chromosomal locations of α1-5, identification of heterotrimeric laminins 8-11, and cloning of a novel α3 isoform. J Cell Biol 137: 685-701
18. Mount SM (1982) A catalogue of splice junction sequences. Nucleic Acids Res 10:459-472
19. Nielsen H, Engelbrecht J, Brunak S, von Heijne G (1997) Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites. Protein Eng 10:1-6
20. Pieke-Dahl SA, Moller CG, Kelley PM, Astuto LM, Cremers CWRJ, Gorin MB, Kimberling WJ. Genetic heterogeneity of Usher syndrome type II: localization to chromosome 5q. Am J Med Genet (in press)
21. Pieke-Dahl SA, Weston MD, Kimberling WJ (1997) Genetic heterogeneity of the Usher syndromes. Assoc Res Otolaryngol 20:A874
22. Pulkkinen L, Uitto J (1999) Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol 18:29-42
23. Sankila EM, Pakarinen L, Kaariainen H, Aittomaki K, Karjalainen S, Sistonen P, de la Chapelle A (1995) Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum Mol Genet 4:93-98
24. Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, Moller CG, et al (1994) Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet 50:32-38
25. Smith RJ, Steel KP, Barkway C, Soucek S, Michaels L (1992) A histologic study of nonmorphogenetic forms of hereditary hearing impairment. Arch Otolaryngol Head Neck Surg 118:1085-1094
26. 2J mice. Hum Mol Genet 4:1055-1061
27. Tessier-Lavigne M, Goodman CS (1996) The molecular biology of axon guidance. Science 274:1123-1133
28. Timpl R (1996) Macromolecular organization of basement membranes. Curr Opin Cell Biol 8:618-624
29. Wadsworth WG, Bhatt H, Hedgecock EM (1996) Neuroglia and pioneer neurons express UNC-6 to provide global and local netrin cues for guiding migrations in C. elegans. Neuron 16:35-46
30. Wayne S, Der Kaloustian V, Schloss M, Polomeno R, Scott DA, Hejtmancik JF, Sheffield VC, et al (1996) Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Hum Mol Genet 5:1689-1692
31. Wayne S, Lowry RB, McLeod DR, Knaus R, Farr C, Smith RJH (1997) Localization of the Usher syndrome type IF to chromosome 10. Am J Hum Genet 61:A300
32. Yurchenco PD, Cheng YS (1993) Self-assembly and calcium-binding sites in laminin: a three-arm interaction model. J Biol Chem 268:17286-17299