A missense mutation in SLC45A2 is associated with albinism in several small long haired dog breeds

Homozygosity for a large deletion in the solute carrier family 45, member 2 (SLC45A2) gene causes oculocutaneous albinism (OCA) in the Doberman Pinscher breed. An albino Lhasa Apso did not have this g.27141_31223del (CanFam2) deletion in her SLC45A2 sequence. Therefore, SLC45A2 was investigated in this female Lhasa Apso to search for other possible variants that caused her albinism. The albino Lhasa Apso was homozygous for a nonsynonymous substitution in the seventh exon, a c.1478G>A base change that resulted in a glycine to aspartic acid substitution (p.G493D). This mutation was not found in a wolf, a coyote, or any of the 15 other Lhasa Apso dogs or 32 other dogs of breeds related to the Lhasa Apso. However, an albino Pekingese, 2 albino Pomeranians, and an albino mixed breed dog that was small and long haired were also homozygous for the 493D allele. The colored puppies of the albino Lhasa Apso and the colored dam of the 2 albino Pomeranians were heterozygous for this allele. Howe...

溶质载体家族45成员2（SLC45A2）基因发生大片段缺失的纯合基因型，可导致杜宾犬（Doberman Pinscher）罹患眼皮肤白化病（OCA）。一只白化症拉萨犬（Lhasa Apso）的SLC45A2基因序列中，未携带该g.27141_31223缺失（CanFam2参考基因组）突变。为此，研究人员针对这只雌性拉萨犬的SLC45A2基因展开探究，以寻找可能引发其白化症的其他变异位点。该白化症拉萨犬的第7外显子存在一处错义突变：c.1478G>A碱基替换，该突变会使编码产物的第493位氨基酸由甘氨酸替换为天冬氨酸（p.G493D）。在1只灰狼、1只郊狼、其余15只拉萨犬，以及32只与拉萨犬亲缘关系相近的其他犬种中，均未检测到该突变。然而，1只白化症北京犬、2只白化症博美犬，以及1只小型长毛混血白化犬的493D等位基因均呈纯合状态。该白化症拉萨犬的有色后代，以及2只白化症博美犬的有色母犬，均为该等位基因的杂合子。……