The researchers analysed the DNA of five ill bobtails brought in for consultation at the veterinary clinic and compared it to that of 15 other healthy bobtails. The analysis of this DNA, with the help of 40,000 genetic markers, enabled the identification of a region of canine chromosome 34 linked to the disease, and more particularly a mutation within gene CDC39.

'We were thus able to identify 15 different mutations of this disease,' explains Anne-Christine Merveille, a researcher in Professor Michel Georges team at the GIGA-ULg Unit. 'These mutations explain half of the cases analysed, or close to 5% of the patients throughout the world who are suffering from this disease.'

The study illustrates well the usefulness of dogs for a rapid decrypting of complex human genetic diseases. 'The demonstration of this gene's responsibility in this pathology will enable the families affected to be better advised,' adds Doctor Anne-Sophie Lequarr?©, in charge of the LUPA project.

nature/ng/journal/vaop/ncurrent/full/ng.726.html