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The Journal of Heredity 2002:93(1)
© 2002 The American Genetic Association 93:70-73

Brief Communication

Characterization of Three Microsatellite Loci Linked to the Canine RP3 Interval

B. Zangerl, Q. Zhang, G. M. Acland, and G. D. Aguirre

From the James A. Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853.

Address correspondence to Dr. G. D. Aguirre at the address above or e-mail: gda1{at}cornell.edu.

X-linked retinitis pigmentosa (XLRP) is one of the most prevalent forms of a genetically heterogeneous group of inherited retinal disorders of man; more than 70% of XLRP families map to the RP2 or RP3 loci on the human X chromosome. Canine X-linked progressive retinal atrophy (XLPRA), observed in the Siberian husky, is the locus homologue of human RP3, but the gene responsible for XLPRA has not yet been identified. To develop polymorphic markers in the RP3 interval in dogs we have isolated microsatellites from canine BAC clones. Three tightly linked microsatellite loci, CUX20001, CUX30001, and CUX40002, have been investigated in 17 dog breeds or breed varieties. Calculated parameters of variability correspond with the number of repeats at each locus. Pedigree analyses showed tight linkage between the canine t-complex-associated testis-expressed 1-like gene (TCTE1l) and the gene ornithine carbamoyltransferase (OTC). Each microsatellite shows conservation within Canidae, and CUX20001 also amplified in Mustelidae and Ursidae. These markers represent an important tool in the fine mapping process for the canine region homologous to the RP3 disease interval and are valuable for evaluation of conservation and homology of this region among related species.


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B. Zangerl, J. L. Johnson, G. M. Acland, and G. D. Aguirre
Independent Origin and Restricted Distribution of RPGR Deletions Causing XLPRA
J. Hered., August 1, 2007; (2007) esm060v2.
[Abstract] [Full Text] [PDF]


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