00311-A: A Continued Molecular Genetic Study of Fanconi Syndrome in Basenjis

Grant Amount: $12,960

Gary S. Johnson, DVM, PhD; University of Missouri, Columbia

April 1, 2004 - March 31, 2005

Sponsor(s):

Breed(s): Basenji

Research Program Area: Kidney & Urological Disease

Abstract

Canine Fanconi Syndrome is an inherited adult-onset kidney disease, common among Basenjis. It can be fatal if untreated. We want to identify the mutation responsible for Fanconi Syndrome in Basenjis. If successful, we will be able to devise a DNA marker assay to identify affected dogs so they can receive early treatment and to identify carriers so Basenji breeders can avoid producing affecteds in future generations. Two recent scientific reports may help us identify the gene for canine Fanconi syndrome. A study of kidneys in transgenic mice with Fanconi Syndrome found substantial decreases in the activity of the SLC17A1 gene. In another study, the cause of inherited human Fanconi syndrome was located to a small region of human chromosome 15 containing only about 40 genes. Genes from this region of human chromosome 15 are found on canine chromosome 30. We plan to determine if the mutation responsible for Fanconi syndrome in Basenjis occurs in the canine SLC17A1 gene or in the target region of canine chromosome 30. If we do not find the Fanconi syndrome mutation in either of these places, we will evaluate the feasibility of searching for the Fanconi syndrome mutation by whole-genome mapping.

Publication(s)

None at this time.