Benkel Bernhard F, Rouvinen-Watt Kirsti, Farid Hossain, Anistoroaei Razvan
Department of Plant and Animal Sciences, Nova Scotia Agricultural College, P.O. Box 550, Truro, NS, B2N 5E3, Canada.
Mamm Genome. 2009 Apr;20(4):256-9. doi: 10.1007/s00335-009-9177-6. Epub 2009 Mar 24.
A rare color variant of the American mink (Neovison vison), discovered on a ranch in Nova Scotia and referred to as the "marbled" variety, carries a distinctive pigment distribution pattern resembling that found in some other species, e.g., the Siamese cat and the Himalayan mouse. We tested the hypothesis that the color pattern in question-light-colored body with dark-colored points (ears, face, tail, and feet)-is due to a mutation in the melanin-producing enzyme tyrosinase (TYR) that results in temperature-sensitive pigment production. Our study shows that marbled mink carry a mutation in exon 4 of the TYR gene (c.1835C > G) which results in an amino acid substitution (p.H420Q). The location of this substitution corresponds to the amino acid position that is also mutated in the TYR protein of the Himalayan mouse. Thus, the marbled variant is more aptly referred to as the Himalayan mink.
在新斯科舍省一个牧场发现的一种罕见的美洲水貂(Neovison vison)颜色变种,被称为“大理石纹”变种,其具有独特的色素分布模式,类似于在其他一些物种中发现的模式,例如暹罗猫和喜马拉雅小鼠。我们检验了这样一个假设,即上述颜色模式——浅色身体搭配深色部位(耳朵、面部、尾巴和脚)——是由于产生黑色素的酪氨酸酶(TYR)发生突变,导致色素生成对温度敏感。我们研究表明,大理石纹水貂在TYR基因的第4外显子中存在一个突变(c.1835C > G),该突变导致一个氨基酸替换(p.H420Q)。这个替换的位置与喜马拉雅小鼠TYR蛋白中也发生突变的氨基酸位置相对应。因此,大理石纹变种更恰当地应被称为喜马拉雅水貂。