May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
Radiation Hybrid Mapping of Cataract Candidate Genes
Author Affiliations & Notes
  • L.S. Hunter
    Baker Inst for Animal Health, Cornell University, Ithaca, NY
  • D.J. Sidjanin
    The Medical College of Wisconsin, Milwaukee, WI
  • J. Johnson
    Baker Inst for Animal Health, Cornell University, Ithaca, NY
  • G. Acland
    Baker Inst for Animal Health, Cornell University, Ithaca, NY
  • E. Kirkness
    The Institute For Genomic Research, Rockville, MD
  • B. Zangerl
    Baker Inst for Animal Health, Cornell University, Ithaca, NY
  • E. Talamas
    The Medical College of Wisconsin, Milwaukee, WI
  • G. Aguirre
    Baker Inst for Animal Health, Cornell University, Ithaca, NY
  • Footnotes
    Commercial Relationships  L.S. Hunter, None; D.J. Sidjanin, None; J. Johnson, None; G. Acland, None; E. Kirkness, None; B. Zangerl, None; E. Talamas, None; G. Aguirre, None.
  • Footnotes
    Support  NIH grant F32–EY13677, The Morris Animal Foundation/The Seeing Eye,Inc., Van Sloan Fund
Investigative Ophthalmology & Visual Science May 2004, Vol.45, 377. doi:
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      L.S. Hunter, D.J. Sidjanin, J. Johnson, G. Acland, E. Kirkness, B. Zangerl, E. Talamas, G. Aguirre; Radiation Hybrid Mapping of Cataract Candidate Genes . Invest. Ophthalmol. Vis. Sci. 2004;45(13):377.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Abstract: : Cataracts are the leading cause of blindness worldwide. Although there is no medical treatment to cure cataracts once they have formed, surgical removal of the cataractous lens can restore sight. There are over 40 cataract loci identified in humans and mouse, however, no pathogenic gene mutations have been identified within a large mammalian model such as the dog. This is worth pursuing because of the similarities between canine and human ocular anatomy and cataract phenotypes. Purpose: To map cataract candidate genes using a radiation hybrid (RH) panel and to use this information to develop and evaluate canine models for cataract formation. Methods: Primers were designed to amplify genomic sequence for canine cataract candidate genes: paired–box 6 (PAX6), lens intrinsic membrane protein 2 (LIM2), paired–like homeodomain transcription factor 3 (PITX3), connexin 46 (CX46), connexin 50 (CX50), beaded filament structural protein 2 (BFSP2), musculoaponeurotic fibrosarcoma oncogene homologue (MAF), gamma crystallin C (CRYGC), gamma crystallin S (CRYGS), and beta crystalllin B2. Radiation hybrid mapping was conducted using a canine/hamster RH panel and Multimap® analysis software. Results: To date, 3 of the 10 cataract candidate genes have been mapped to canine chromosomes. Pax6 maps to CFA 18 in an area with homology to human chromosome (HSA) 11p13. LIM2 maps to CFA1 in an area homologous to HSA19q13 and CRYGS maps to CFA34 in a region homologous to HSA 3. Microsatellite markers have been chosen proximal to these candidate genes on their respective chromosomes and will be used for association and linkage testing in canine pedigrees demonstrating inherited forms of cataract. Conclusions: The canine cataract genes which have been mapped so far, locate to the canine genomic position expected based on previously identified canine/human conserved syntenies. This genetic correlation along with the similarities in ocular anatomy and cataract phenotype further supports the development of canine models for the study of cataractogenesis.

Keywords: cataract • candidate gene analysis • genetics 
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