Linkage mapping of the primary disease locus for collie eye anomaly

• Published in: Genomics (San Diego, Calif.) Calif.), 2003-07, Vol.82 (1), p.86-95
• Main Authors: Lowe, Jennifer K., Kukekova, Anna V., Kirkness, Ewen F., Langlois, Mariela C., Aguirre, Gustavo D., Acland, Gregory M., Ostrander, Elaine A.
• Format: Article
• Language: English
• Subjects: Animals; Biological and medical sciences; Canine; Choroid; Choroid - abnormalities; Chromosome Mapping; Chromosomes, Mammalian; Collie; Dog; Dog Diseases - genetics; Dogs; Eye; Eye Abnormalities - genetics; Eye Abnormalities - pathology; Eye Abnormalities - veterinary; Female; Fundamental and applied biological sciences. Psychology; Genes, Recessive; Genetic Linkage; Genetic Markers; Linkage mapping; Lod Score; Male; Microsatellite Repeats; Molecular and cellular biology; Molecular Sequence Data; Pedigree; Penetrance; Radiation Hybrid Mapping; Synteny
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1016/S0888-7543(03)00078-8

Collie eye anomaly ( cea) is a hereditary ocular disorder affecting development of the choroid and sclera segregating in several breeds of dog, including rough, smooth, and Border collies and Australian shepherds. The disease is reminiscent of the choroidal hypoplasia phenotype observed in humans in conjunction with craniofacial or renal abnormalities. In dogs, however, the clinical phenotype can vary significantly; many dogs exhibit no obvious clinical consequences and retain apparently normal vision throughout life, while severely affected animals develop secondary retinal detachment, intraocular hemorrhage, and blindness. We report genetic studies establishing that the primary cea phenotype, choroidal hypoplasia, segregates as an autosomal recessive trait with nearly 100% penetrance. We further report linkage mapping of the primary cea locus to a 3.9-cM region of canine chromosome 37 (LOD = 22.17 at θ = 0.076), in a region corresponding to human chromosome 2q35. These results suggest the presence of a developmental regulatory gene important in ocular embryogenesis, with potential implications for other disorders of ocular vascularization.