Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10

Human Molecular Genetics

Volumn 5, Issue 10, 1996, Pages 1689-1692

  Wayne, Sigrid ^a   Der Kaloustian, Vazken M ^c   Schloss, Melvin ^c   Polomeno, Robert ^c   Scott, Daryl A ^b   Hejtmancik, J Fielding ^d   Sheffield, Val C ^b   Smith, Richard J H ^a  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c MCGILL UNIVERSITY   (Canada)

^d NATIONAL EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; DNA MARKER;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 10Q; DNA POLYMORPHISM; FAMILY STUDY; FEMALE; GENE MAPPING; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; USHER SYNDROME;

EID: 0029798669     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.10.1689     Document Type: Article

References (25)

1. Smith, R.J.H., Berlin, C.I., Hejtmancik, J.F., Keats, B.J.B., Kimberling, W.J., Lewis, R.A., Möller, C.G., Pelias, M.Z. and Tranebjaerg, L. (1994) Clinical diagnosis of the Usher Syndromes. Am. J. Med. Genet. 50, 32-38.
2. Sankila, E., Pakarinen, L., Kääriäinen, H., Aittomäki, Karjalainen, S., Sistonen, P. and de la Chapelle, A. (1995) Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum. Mol. Genet. 4, 93-98.
3. Kaplan, J., Gerber, S., Bonneau, D., Rozet, J.M., Delrieu, O., Briard, M.L., Dollfus, H., Ghazi, I., Durier, J.L., Frezal, J. and Munnich, A. (1992) A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics 14, 979-987.
4. Kimberling, W.J., Möller, C.G., Davenport, S., Priluck, I.A., Beighton, P.H., Breenberg, J., Reardon, W., Weston, M.D., Kenyon, J.B., Grunkemeyer, J.A., Pieke Dahl, S., Overbeck, L.D., Blackwood, D.J., Brower, A.M., Hoover, D.M., Rowland, P. and Smith, R.J.H. (1992) Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics 14, 988-994.
5. Smith, R.J.H., Lee, E.C., Kimberling, W.J., Daiger, S.P., Pelias, M.Z., Keats, B.J.B., Jay, M., Bird, A., Reardon, W., Guest, M., Ayyagari, R. and Hejtmancik, J.F. (1992) Localization of two genes for Usher syndrome type I to chromosome 11. Genomics 14, 995-1002.
6. Kimberling, W.J., Weston, M.D., Möller, C., Davenport, S.L.H., Shugart, Y.Y., Priluck, I.A., Martini, A., Milani, M. and Smith, R. (1990) Localization of Usher syndrome type II to chromosome 1q. Genomics 7, 245-249.
7. Well, D., Blanchard, S., Kaplan, J., Gullford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levillers, J., Weston, M.D., Kelley, P.M., Kimberling, W.J., Wagenaar, M., Levi-Acobas, F., Larget-Plet, D., Munnich, A., Steel, K.P., Brown, S.D.M. and Petit, C. (1995) Defective myosin VIIA gene responsible for Usher syndrome type IB. Nature 374, 60-61.
8. Kimberling, W.J., personal communication.
9. Kruglyak, L., Daly, M. and Lander, E. (1995) Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am. J. Hum. Genet. 56, 519-527.
10. Lander, E., and Botstein, D. (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236, 1567-1570.
11. Weller, P.A., Ogryzko, E.P., Corben, E.B., Zhidkova, N.I., Patel, B., Price, G.J., Spurr, N.K., Koteliansky, V.E. and Critchley, D.R. (1990) Complete sequence of human vinculin and assignment of the gene to chromosome 10. Proc. Natl. Acad. Sci. USA 87, 5667-5671.
12. Shirvan, A., Srivastava, M., Wang, M.G., Cultraro, C., Magendzo, K., McBride, O.W., Pollard, H.B. and Burns, A.L. (194) Divergent structure of the human synexin (annexin VII) gene and assignment to chromosome 10. Biochemistry 33, 6888-6901.
13. G: A new gene with neural-specific isoforms localized at the axonal initial segment and node of ranvier. J. Biol. Chem. 270, 2352-2359.
14. Tiranti, V., Rossi, E., Ruiz-Carrillo, A., Rossi, G., Rocchi, M., DiDonato, S., Zuffardi, O. and Zeviani, M. (1995) Chromosomal localization of mitochrondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitoctirondrial biogenesis. Genomics 25, 559-564.
15. Pajunen, L., Tamminen, M., Solomon, E. and Pihlajaniemi, T. (1989) Assignment of the gene coding for the alpha 1 chain of collagen type XIII (COL13A1) to human chromsome region 10q11-qtr. Cytogenet. Cell Genet. 52, 190-193.
16. Prezant, T.R., Agapian, J.V., Bohlman, M.C., Bu, X., Oztas, S., Qui, Q.-W., Arnos, K.S., Cortopassi, G.A., Jaber, L., Rotter, J.I., Shohat, M. and Fischel-Ghodsian, N. (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nature Genet. 4, 289-294.
17. Reid, F.M., Vernham, G.A. and Jacobs, H.T. (1994) A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum. Mut. 3, 243-247.
18. Slepecky, N.B., Savage, J.E. and Yoo, T.J. (1992) Localization of type II, IX and V collagen in the inner ear. Acta. Otolaryngol. (Stockh.) 112, 611-617.
19. Lyon, M.F. and Searle, A.G. (eds) (1989) Genetic Variants and Strains of the Laboratory Mouse. Oxford University Press, Oxford.
20. Deol, M.S. (1956) The anatomy and development of the mutants pirouette, shaker-1 and waltzer in the mouse. Proc. R. Soc. Lond. (Biol.) 145, 206-213.
21. Osako, S. and Hilding, D.A. (1971) Electron microscopic studies of capillary permeability in normal and Ames waltzer deaf mice. Acta. Otolaryngol. (Stockh.) 71, 365-376.
22. Kocher, W. (1960) Untersuchungen zur Genetik und Pathologie des Entwicklung von 8 Labyrinth-Mutanten (deaf-waltzer-shaker-Mutanten) des Maus (Mus musculus). Z. Vererbn. 91, 114-140.
23. Gibson, F., Walsh, J., Mburu, P., Varela, A., Brown, K.A., Antonio, M., Beisel, K.W., Steel, K.P. and Brown, S.D. (1995) A type VII myosin encoded by the mouse deafness gene shaker-1. Nature 374, 62-64.
24. Grimberg, J., Nawoschik, S., Belluscio, L., McKee, R., Turck, A. and Eisenber, A. (1989) A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res. 17, 390.
25. Sheffield, V.C., Weber, J.L., Beutow, K.H., Murray, J.C., Even, D.A., Wiles, K., Duyk, G.M. et al. (1995) A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. Hum. Mol. Genet. 4, 1837-1844.