A frameshift mutation in the cubilin gene (CUBN) in Border Collies with Imerslund-Grasbeck syndrome (selective cobalamin malabsorption).

ABSTRACT: Imerslund-Gräsbeck syndrome (IGS) or selective cobalamin malabsorption has been described in humans and dogs. IGS occurs in Border Collies and is inherited as a monogenic autosomal recessive trait in this breed. Using 7 IGS cases and 7 non-affected controls we mapped the causative mutation by genome-wide association and homozygosity mapping to a 3.53 Mb interval on chromosome 2. We re-sequenced the genome of one affected dog at ∼10× coverage and detected 17 non-synonymous variants in the critical interval. Two of these non-synonymous variants were in the cubilin gene (CUBN), which is known to play an essential role in cobalamin uptake from the ileum. We tested these two CUBN variants for association with IGS in larger cohorts of dogs and found that only one of them was perfectly associated

SUBMITTER: Owczarek-Lipska M 

PROVIDER: S-EPMC3628801 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature