May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Canine Oculoskeletal Dysplasia Models of Human Autosomal Recessive Stickler Syndrome
Author Affiliations & Notes
  • G. M. Acland
    James A Baker Institute, Cornell University, Ithaca, New York
  • R. Guyon
    Génétique et Développement, Faculté de Médecine, Rennes, France
  • A. V. Kukekova
    James A Baker Institute, Cornell University, Ithaca, New York
  • T. Kouznetsova
    School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
  • J. L. Johnson
    James A Baker Institute, Cornell University, Ithaca, New York
  • G. D. Aguirre
    School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
  • O. Goldstein
    James A Baker Institute, Cornell University, Ithaca, New York
  • Footnotes
    Commercial Relationships  G.M. Acland, Optigen LLC, I; Optigen LLC, P; R. Guyon, None; A.V. Kukekova, Optigen LLC, P; T. Kouznetsova, None; J.L. Johnson, Optigen LLC, P; G.D. Aguirre, Optigen LLC, I; Optigen LLC, P; O. Goldstein, Optigen LLC, P.
  • Footnotes
    Support  EY06855; MH069688; Morris Animal Foundation, Foundation Fighting Blindness; Marshfield Mammalian Genotyping Service; Van Sloun Fund
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 1703. doi:https://doi.org/
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    • Get Citation

      G. M. Acland, R. Guyon, A. V. Kukekova, T. Kouznetsova, J. L. Johnson, G. D. Aguirre, O. Goldstein; Canine Oculoskeletal Dysplasia Models of Human Autosomal Recessive Stickler Syndrome. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1703. doi: https://doi.org/.

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

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Abstract

Purpose: : To map and identify the genes and mutation responsible for these canine oculo-skeletal dysplasias.

Methods: : A genome wide scan of experimental 3-generation pedigrees informative for drd1 and drd2 was undertaken by the Mammalian Genotyping Service (Marshfield, WI), using the Marshfield canine screening set of 241 markers, a selection of canine microsatellite markers distributed relatively evenly across the canine genome. DNA was extracted from 138 dogs (4 normal, 43 carrier, 29 affected dogs for drd1, and 9 normal, 34 carrier, and 19 affected dogs for drd2). Two points linkage analysis was undertaken using Multimap.

Results: : Positive linkage was detected for drd2 on canine chromosome CFA15 (REN06C11, theta = 0.055, lod =12.852), and strongly suggestive linkage for drd1 on chromosome CFA24 (FH2079, theta = 0.151, lod= 2.957). Sequencing of positional candidates in the interval is currently in progress.

Conclusions: : Mutations in COL9A1 have previously been identified as causative in human autosomal recessive Stickler syndrome. Genome wide scans have ruled out this gene in canine OSD.However, these canine oculo-skeletal dysplasias are valuable models of autosomal recessive Stickler syndrome, and our results indicate that mutations in other collagen genes, or other novel genes, may account for previously unexplained cases of this syndrome in humans.

Keywords: genetics • development • retinal detachment 
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