A Mutation in the SLC45A2 Gene is Associated with Albinism in a Lhasa Apso Dog

Abstract Text:                                                                 

Mutations in Solute Carrier Family 45, member 2 gene (SLC45A2) have previously been reported to cause albinism in humans, mice, and horses. The objective of this study was to determine if a mutation in the SLC45A2 gene caused albinism in a Lhasa Apso. The study reveals a novel mutation in the seventh exon, a c.1479G>A base change that leads to an amino acid change G493A. This amino acid was conserved as a glycine in all other domesticated species. This mutation was not found in any of the 30 other dogs of related breeds, all of whom were colored. The albino female Lhasa Apso was mated to a colored male and their four colored pups were all heterozygous for this mutation, suggesting that her albinism was due to a recessive 493A allele. 

Keywords:

albino

oculocutaneous albinism

OCA

Pug

MATP