TYRP1 and MC1R genotypes and their effects on coat color in dogs
TYRP1 and MC1R genotypes and their effects on coat color in dogs
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DOI：
10.1007/s00335-001-2147-2
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发表时间：
2002-07-01
期刊：
影响因子：
2.5
通讯作者：
Goldfinch, AD
中科院分区：
文献类型：
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作者：
Schmutz, SM;Berryere, TG;Goldfinch, AD
我们使用从皮肤活检制备的 cDNA 进行 PCR 扩增，以确定狗 TYRP1 的近全长蛋白质编码序列，并确定可能与 B 基因座相关的序列变异。一种常见的变体在外显子 5 (Q331 ter) 中包含提前终止密码子，另一种则删除了外显子 5 (345de1P) 中的脯氨酸残基。外显子 2 (S41C) 中的第三个变异出现频率较低。我们对 43 只棕色（包括棕色和白色）狗和 34 只黑色（包括三色、黑棕褐色和黑白）狗进行了基因分型。棕色组的所有 43 个人都携带两个或多个可能干扰 TYRP1 功能的序列变体，而黑色组的 34 个人中有 0 个携带两个或多个这些变体（10 个携带一种变体）。我们还对 13 只黑鼻狗和 10 只棕鼻狗进行了基因分型，它们的皮毛颜色被描述为红色、黄色、金色、杏色或橙色（包括不同程度的白色）。所有这些狗的 R306X MC1R 变异都是纯合的，该变异与这些毛色表型相关。黑色或棕色的鼻子与上述三种 TYRP1 变体的缺失或存在完全相关。 TYRP1 连锁定位于狗 11 号染色体，在外显子 7 中有一个 SNP。
We used PCR amplification of cDNA prepared from skin biopsies to determine the nearly full-length, protein-coding sequence of dog TYRP1, and to define sequence variants potentially responsible for the B locus. One common variant contained a premature stop codon in exon 5 (Q331 ter), and the other deleted a proline residue in exon 5 (345de1P). A third variant in exon 2 (S41C) occurred less frequently. We genotyped 43 brown (including brown and white) and 34 black (including tricolor, black-and-tan, and black and white) dogs. All 43 of the brown group carried two or more of these sequence variants likely to interfere with TYRP1 function, whereas 0 of 34 in the black group carried two or more of these variants (10 carried one variant). We also genotyped 13 black-nosed and 10 brown-nosed dogs whose coat color was described as red, yellow, gold, apricot, or orange (including various degrees of white). All these dogs were homozygous for a R306X MC1R variant shown to be associated with these coat color phenotypes. The black or brown nose correlated perfectly with the absence or presence of the same three TYRP1 variants described above. TYRP1 was linkage mapped to dog chromosome 11, with a SNP in exon 7.