Bouvet A, Henthorn PS, Wolfe JH, Haskins ME and Patterson DF.
Section of Medical Genetics Department of Clinical Studies- Philadelphia
Mucopolysaccharidosis type Vll (MPS Vll) is an inherited deficiency for the enzyme beta-glucuronidase (GUSB), reported in humans, mice, and dogs. As a first step toward the elucidation of the molecular basis of this disease in dogs, we have screened a canine testis cDNA library.
Our clones isolated to date contain 1.9 kb of the full-length 2.2 kb cDNA. Their sequences have been determined and compared with published human, mouse and rat GUSB cDNA sequences. The GUSB gene has been well conserved throughout evolution and the dog cDNA sequence is more closely related to the human cDNA sequence than to mouse or rat cDNAs. Work is in progress to isolate the full-length canine GUSB cDNA, determine the specific defect in the canine GUSB gene in MPS Vll dogs, and develop a DNA-based assay to identify carriers of the mutation.
Retour au CV Retour au Rapport d'Activités
Back to Publications List Back to Report