ITHACA, N.Y. -- Two groups of researchers collaborating on a map of the canine genome have discovered the probable genetic correlation between the most widespread cause of inherited blindness in dogs and a similar human disease.
The scientists, working at Cornell University's James A. Baker Institute for Animal Health and the Fred Hutchinson Cancer Research Center in Seattle, report their findings in Proceedings of the National Academy of Sciences published tomorrow (March 17). They say that the genetic defect responsible for progressive rod-cone degeneration (called prcd), a form of progressive retinal atrophy known to cause blindness in at least five dog breeds, appears to be the canine version of the human gene defect producing RP17, one of the numerous forms of retinitis pigmentosa, a leading cause of familial blindness.
Before this latest research, no association had been suspected between RP17 and prcd. Now the researchers consider it likely that RP17 and prcd spring from mutations in corresponding genes in humans and dogs.
"If this is true, the identification of the prcd gene may lead not only to an unequivocal diagnostic test for dogs but also to gene therapy methods for prcd in dogs -- which eventually may be applicable to human RP17 patients," says veterinary ophthalmologist and geneticist Gregory Acland, the lead author of the report and a senior research associate in the laboratory of Gustavo Aguirre at the Baker Institute, a unit of Cornell's College of Veterinary Medicine.
"This is an important finding for the field of canine genetics as well, since it represents the first use of the map for identifying a disease locus," says Elaine Ostrander, a molecular biologist in Hutchinson's clinical research division and a co-author of the report.
"It is exciting that we now have a road map and have identified signposts indicating where to look for the defective gene
causing prcd, a possibility that did not exist before," adds co-au
Contact: Roger Segelken
Cornell University News Service