Mammalian Genome

, Volume 20, Issue 2, pp 109–123 | Cite as

Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3

  • Anna V. Kukekova
  • Orly Goldstein
  • Jennifer L. Johnson
  • Malcolm A. Richardson
  • Susan E. Pearce-Kelling
  • Anand Swaroop
  • James S. Friedman
  • Gustavo D. Aguirre
  • Gregory M. Acland


Rod-cone dysplasia type 2 (rcd2) is an autosomal recessive disorder that segregates in collie dogs. Linkage disequilibrium and meiotic linkage mapping were combined to take advantage of population structure within this breed and to fine map rcd2 to a 230-kb candidate region that included the gene C1orf36 responsible for human and murine rd3, and within which all affected dogs were homozygous for one haplotype. In one of three identified canine retinal RD3 splice variants, an insertion was found that cosegregates with rcd2 and is predicted to alter the last 61 codons of the normal open reading frame and further extend the open reading frame. Thus, combined meiotic linkage and LD mapping within a single canine breed can yield critical reduction of the disease interval when appropriate advantage is taken of within-breed population structure. This should permit a similar approach to tackle other hereditary traits that segregate in single closed populations.


Linkage Disequilibrium Splice Variant Linkage Disequilibrium Mapping Canine Genome Progressive Retinal Atrophy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



We are grateful to Amanda Nickle, Gerri Antonini, and the staff of the RDS facility for research support. This study was supported by EY006855, MH077811, Foundation Fighting Blindness, Morris Animal Foundation, Collie Health Foundation, and Cornell VERGE Initiative. The content is solely the responsibility of the authors and does not necessarily represent the official views of the supporting institutions or foundations.

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Copyright information

© Springer Science+Business Media, LLC 2008

Authors and Affiliations

  • Anna V. Kukekova
    • 1
  • Orly Goldstein
    • 1
  • Jennifer L. Johnson
    • 1
  • Malcolm A. Richardson
    • 1
    • 2
  • Susan E. Pearce-Kelling
    • 1
  • Anand Swaroop
    • 3
    • 4
  • James S. Friedman
    • 4
  • Gustavo D. Aguirre
    • 5
  • Gregory M. Acland
    • 1
  1. 1.James A. Baker Institute for Animal Health, College of Veterinary MedicineCornell UniversityIthacaUSA
  2. 2.Department of Microbiology and ImmunologyDartmouth Medical School, Dartmouth-Hitchcock Medical CenterLebanonUSA
  3. 3.W. K. Kellogg Eye Center, University of MichiganAnn ArborUSA
  4. 4.National Eye Institute, National Institutes of HealthBethesdaUSA
  5. 5.School of Veterinary MedicineUniversity of PennsylvaniaPhiladelphiaUSA

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