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Usher Syndrome Type 1C

Localization to Chromosome 11p14 and Construction of a YAC Contig

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Degenerative Retinal Diseases

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Abstract

The Usher Syndromes are a group of autosomal recessive disorders characterized by congenital sensorineural deafness and progressive pigementory retinopathy. Several types of Usher syndromes (Ush) have been distinguished by age of onset, rate of progression and severity of clinical symptoms.

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References

  1. Smith, R.J., Berlin, C.I., Hejtmancik, J.F., Keats, B.J., Kimberling, W.J., Lewis, R.A., Moller, C.G., Pelias, M.Z., Tranebjaerg, L. 1994, Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am. J. Med. Genet. 50:32–38.

    Article  PubMed  CAS  Google Scholar 

  2. Kaplan, J., Gerber, S., Bonneau, D., Rozet, J.M., Delrieu, O., Briard, M.L., Dollfus, H., Ghazi, I., Dufier, J.L., Frezal, J. 1992, A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics 14:979–987.

    Article  PubMed  CAS  Google Scholar 

  3. Smith, R.J., Lee, E.C., Kimberling, W.J., Daiger, S.P., Pelias, M.Z., Keats, B.J., Jay, M., Bird, A., Reardon, W., Guest, M. 1992, Localization of two genes for Usher syndrome type I to chromosome 11. Genomics 14:995–1002.

    Article  PubMed  CAS  Google Scholar 

  4. Wayne, S., Der Kaloustian, V.M., Schloss, M., Polomeno, R., Scott, D.A., Hejtmancik, J.F., Sheffield, V.C., Smith, R.J.H. 1996, Localization of the Usher Syndrome type ID gene (Ush1D) to chromosome 10 P. Human Molecular Genetics 5:1689

    Article  PubMed  CAS  Google Scholar 

  5. Chaib, H., Kaplan, J., Gerber, S., Vincent, C., Ayadi, H., Slim, R., Munnich, A., Weissenbach, J., Petit, C. 1997, A newly identified locus for Usher Syndrome type 1 USH1E, maps to chromosome 21q21. Human Molecular Genetics 6:27–32.

    Article  PubMed  CAS  Google Scholar 

  6. Kimberling, W.J., Weston, M.D., Moller, C., van Aarem, A., Cremers, C.W., Sumegi, J., Ing, P.S., Connolly, C., Martini, A., Milani, M. 1995, Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41. Am. J. Hum. Genet. 56:216–223.

    PubMed  CAS  Google Scholar 

  7. Sankila, E.M., 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.

    PubMed  CAS  Google Scholar 

  8. Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M.D. 1995, Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374:60–61.

    Article  PubMed  CAS  Google Scholar 

  9. Ayyagari, R., Smith, R.J.H., Polymeropoulos, M., Daiger, S.P., Pelias, M.Z., Wozencraft, L., Kaiser-Kupfer, M., Hejtmancik, J.F. 1995, Localisation of the Usher Syndrome Type 1 Gene in the French Acadian Population of Louisiana to Chromosome 11p14-15.1 by Linkage and Haplotype Analysis. Ind. J. Hum. Genet 1:93–103.

    Google Scholar 

  10. Keats, B.J., Nouri, N., Pelias, M.Z., Deininger, P.L., 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.

    PubMed  CAS  Google Scholar 

  11. Ayyagari, R., Smith, R.J.H., Lee, E.C., Kimberling, B.J., Jay, M., Bird, A., Hejtmancik, J.F. Heterogeneity of Usher syndrome type 1. In: Retinal Degeneration; Hollyfield, J. G.; Anderson, R. E.; La Vail, M. M. Eds. Plenum Press, New York: 1993, pp 127–133.

    Chapter  Google Scholar 

  12. Padma, T., Ayyagari, R., Murty, J.S., Basti, S., Fletcher, T., Rao, G.N., Kaiser-Kupfer, M., Hejtmancik, J.F. 1995, Autosomal dominant zonular cataract with suturai opacities localized to chromosome 17q11-12. Am. J. Hum. Genet. 57:840–845.

    PubMed  CAS  Google Scholar 

  13. Ayyagari, R., Li, Y., Smith, R.J.H., Pelias, M.Z., Hejtmancik, J.F. 1995, Fine Mapping of the Usher Syndrome Type 1C to Chromosome 11p14 and Idnetification of Flanking Markers by Haplotype Analysis. Mol. Vis. (http://www.emory.edu/MOLECULAR_VISION/v1/ayyagari.1

  14. Lathrop, G.M., Lalouel, J.M. 1984, Easy calculations of lod scores and genetic risks on small computers. Am. J. Hum. Genet. 36:460–465.

    PubMed  CAS  Google Scholar 

  15. Anand, R., Riley, J.H., Butler, R., Smith, J.C., Markham, A.F. 1990, A 3.5 genome equivalent multi access YAC library: construction, characterisation, screening and storage. Nucleic. Acids. Res. 18:1951–1956.

    Article  PubMed  CAS  Google Scholar 

  16. Albertsen, H.M., Abderrahim, H., Cann, H.M., Dausset, J., Le Paslier, D., Cohen, D. 1990, Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents. Proc. Natl. Acad. Sci. U. S. A. 87:4256–4260.

    Article  PubMed  CAS  Google Scholar 

  17. Green, E.D., Olson, M.V. 1990, Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction. Proc. Natl. Acad. Sci. U. S. A. 87:1213–1217.

    Article  PubMed  CAS  Google Scholar 

  18. Chumakov, I.M., Rigault, P., Le Gall, I., Bellanne-Chantelot, C., Billault, A., Guillou, S., Soularue, P., Guas-coni, G., Poullier, E., Gros, I. 1995, A YAC contig map of the human genome. Nature 377:175–297.

    PubMed  CAS  Google Scholar 

  19. Fantes, J.A., Oghene, K., Boyle, S., Danes, S., Fletcher, J.M., Bruford, E.A., Williamson, K., Seawright, A., Schedl, A., Hanson, I. 1995, A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1. Genomics 25:447–461.

    Article  PubMed  CAS  Google Scholar 

  20. Brownstein, B.H., Silverman, G.A., Little, R.D., Burke, D.T., Korsmeyer, S.J., Schlessinger, D., Olson, M.V. 1989, Isolation of single-copy human genes from a library of yeast artificial chromosome clones. Science 244:1348–1351.

    Article  PubMed  CAS  Google Scholar 

  21. Chandrasekharappa, S.C., Marchuk, D.A., Collins, F.S. Analysis of Yeast Artificial Chromosome Clones. In: Methods in Molecular Biology; Burmeister, M.; Ulanovsky, I Eds. The Humana Press Inc., Totowa, NJ. 1992, pp 235–257.

    Google Scholar 

  22. Kere, J., Nagaraja, R., Mumm, S., Ciccodicola, A., D’Urso, M., Schlessinger, D. 1992, Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts. Genomics 14:241–248.

    Article  PubMed  CAS  Google Scholar 

  23. Tagle, D.A., Collins, F.S. 1992, An optimized Alu-PCR primer pair for human-specific amplification of YACs and somatic cell hybrids. Hum. Mol. Genet. 1:121–122.

    Article  PubMed  CAS  Google Scholar 

  24. Glaser, T., Housman, D., Lewis, W.H., Gerhard, D., Jones, C. 1989, A fine-structure deletion map of human chromosome 11p: analysis of J1 series hybrids. Somat. Cell Mol. Genet. 15:477–501.

    Article  PubMed  CAS  Google Scholar 

  25. James, M.R., Richard, C.W., 3rd, Schott, J.J., Yousry, C., Clark, K., Bell, J., Terwilliger, J.D., Hazan, J., Dubay, C., Vignal, A. 1994, A radiation hybrid map of 506 STS markers spanning human chromosome 11. Nat. Genet. 8:70–76.

    Article  PubMed  CAS  Google Scholar 

  26. Qin, S., Nowak, N.J., Zhang, J., Sait, S.N., Mayers, P.G., Higgins, M.J., Cheng, Y., Li, L., Munroe, DJ., Gerhard, D.S., Weber, B.H., Bric, E., Housman, D.E., Evans, G.A., Shows, T.B. 1996, A high-resolution physical map of human chromosome 11. Proc. Natl. Acad. Sci. U. S. A. 93:3149–3154.

    Article  PubMed  CAS  Google Scholar 

  27. Sellar, G.C., Jordan, S.A., Bickmore, W.A., Fantes, J.A., van Heyningen, V., Whitehead, A.S. 1994, The human serum amyloid A protein (SAA) superfamily gene cluster: mapping to chromosome 11p15.1 by physical and genetic linkage analysis. Genomics 19:221–227.

    Article  PubMed  CAS  Google Scholar 

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Author information

Authors and Affiliations

  1. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA

    Radha Ayyagari

  2. National Eye Institute, NIH, Bethesda, Maryland, USA

    Anren Li, Yan Li & J. Fielding Hejtmancik

  3. Division of Metabolism and Endocrinology, Washington Univesity School of Medicine, St. Louis, Missouri, USA

    Ann Nestorowicz & M. Alan Permutt

  4. Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA

    Richard J. H. Smith

Authors
  1. Radha Ayyagari
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  2. Anren Li
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  3. Ann Nestorowicz
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  4. Yan Li
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  5. Richard J. H. Smith
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  6. M. Alan Permutt
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  7. J. Fielding Hejtmancik
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Editor information

Editors and Affiliations

  1. University of California, San Francisco, San Francisco, California, USA

    Matthew M. LaVail

  2. Cleveland Clinic Foundation, Cleveland, Ohio, USA

    Joe G. Hollyfield

  3. University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA

    Robert E. Anderson

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© 1997 Springer Science+Business Media New York

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Ayyagari, R. et al. (1997). Usher Syndrome Type 1C. In: LaVail, M.M., Hollyfield, J.G., Anderson, R.E. (eds) Degenerative Retinal Diseases. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-5933-7_33

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  • DOI: https://doi.org/10.1007/978-1-4615-5933-7_33

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4613-7718-4

  • Online ISBN: 978-1-4615-5933-7

  • eBook Packages: Springer Book Archive

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