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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.
The final publication is available at www.springerlink.com
retinal cdna, splice variant, retinal degeneration, mouse exon, affected dog, rna, polynucleotide, information biomacromolecule, bac clone, nucleic acid, opossum genome, proline, northern blot analysis, amino acid, arginine
Kukekova, A. V., Goldstein, O., Johnson, J. L., Richardson, M. A., Pearce-Kelling, S. E., Swaroop, A., Friedman, J. S., Aguirre, G. D., & Acland, G. M. (2009). Canine RD3 Mutation Establishes Rod-Cone Dysplasia Type 2 (rcd2) as Ortholog of Human and Murine rd3. Mammalian Genome, 20 (2), 109-123. http://dx.doi.org/10.1007/s00335-008-9163-4
Additional FilesKukekova_Mamm Genom Supp_2009.pdf (305 kB)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons, Eye Diseases Commons, Medical Cell Biology Commons, Medical Genetics Commons, Ophthalmology Commons, Optometry Commons, Veterinary Medicine Commons
Date Posted: 06 May 2015
This document has been peer reviewed.