Multiple variants in XDH and MOCOS underlie xanthine urolithiasis in dogs
Nicole M. Tate, Katie M. Minor, Jody P. Lulıch, James R. Mickelson, Allyson Berent, Jonathan D. Foster, Kasey H. Petersen, Eva Furrow
Abstract
p.Leu46Pro variant has not been previously reported in human or other animal cases and provides novel data supporting this residue as critical to MOCOS function. All variants were present in the homozygous state in affected dogs, indicating an autosomal recessive mode of inheritance. Allele frequencies of these variants in breed-specific populations ranged from 0 to 0.18. In conclusion, multiple diverse variants appear to be responsible for hereditary xanthinuria in dogs.
Topics & Concepts
Missense mutationGeneticsExonBiologyAlleleFrameshift mutationGeneMutationMetabolism and Genetic DisordersBiochemical and Molecular ResearchFolate and B Vitamins Research