SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system.

ABSTRACT:

Background

Cystinuria, one of the first recognized inborn errors of metabolism, has been reported in many dog breeds.

Hypothesis/objectives

To determine urinary cystine concentrations, inheritance, and mutations in the SLC3A1 and SLC7A9 genes associated with cystinuria in 3 breeds.

Animals

Mixed and purebred Labrador Retrievers (n = 6), Australian Cattle Dogs (6), Miniature Pinschers (4), and 1 mixed breed dog with cystine urolithiasis, relatives and control dogs.

Methods

Urinary cystinuria and aminoaciduria was assessed and exons of the SLC3A1 and SLC7A9 genes were sequenced from genomic DNA.

Results

In each breed, male and female dogs, independent of neuter status, were found to form calculi. A frameshift mutation in SLC3A1 (c.350delG) resulting in a p

SUBMITTER: Brons AK 

PROVIDER: S-EPMC3946761 | biostudies-literature | 2013 Nov-Dec

REPOSITORIES: biostudies-literature