Platinum coat color in red fox (Vulpes vulpes) is caused by a mutation in an autosomal copy of KIT
Platinum coat color in red fox (Vulpes vulpes) is caused by a mutation in an autosomal copy of KIT
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DOI：
10.1111/age.12270
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发表时间：
2015-04-01
期刊：
影响因子：
2.4
通讯作者：
Kukekova, A. V.
中科院分区：
文献类型：
--
作者：
Johnson, J. L.;Kozysa, A.;Kukekova, A. V.
红狐(秃狐)表现出包括白金在内的多种毛色，这是农场饲养的狐狸种群中常见的一种表型。白金等位基因杂合子的狐狸有浅银色的皮毛和广泛的白色斑点，而纯合子是胚胎致命的。在白金狐皮肤中发现了两个KIT转录本。长的转录本与银狐的KIT转录本相同，而短的转录本没有外显子17，是白金特有的。KIT基因在狐狸基因组中有几个拷贝：2号染色体上的一个常染色体拷贝和B染色体上的额外拷贝。为了鉴定白金特异的试剂盒序列，对一只白金和一只银狐的基因组进行了测序。在白狐KIT内含子17的第一个核苷酸上发现了单核苷酸多态(SNP)。在白金狐狸中，SNP的A等位基因扰乱了供体剪接位点，并导致外显子17被跳过，外显子17是编码保守的酪氨酸激酶结构域的片段的一部分。连锁图谱(LOD 25.59)证实A等位基因与白金表型完全共分离。所有来自俄罗斯和美国的养殖场饲养的白狐都是SNP(A/G)杂合子，而不同毛色的狐狸都是G等位基因纯合子。对白金突变的鉴定表明，其他与白金等位的狐狸白斑表型也可能是由KIT基因突变引起的。
The red fox (Vulpes vulpes) demonstrates a variety of coat colors including platinum, a common phenotype maintained in farm-bred fox populations. Foxes heterozygous for the platinum allele have a light silver coat and extensive white spotting, whereas homozygosity is embryonic lethal. Two KIT transcripts were identified in skin cDNA from platinum foxes. The long transcript was identical to the KIT transcript of silver foxes, whereas the short transcript, which lacks exon 17, was specific to platinum. The KIT gene has several copies in the fox genome: an autosomal copy on chromosome 2 and additional copies on the B chromosomes. To identify the platinum-specific KIT sequence, the genomes of one platinum and one silver fox were sequenced. A single nucleotide polymorphism (SNP) was identified at the first nucleotide of KIT intron 17 in the platinum fox. In platinum foxes, the A allele of the SNP disrupts the donor splice site and causes exon 17, which is part of a segment that encodes a conserved tyrosine kinase domain, to be skipped. Complete cosegregation of the A allele with the platinum phenotype was confirmed by linkage mapping (LOD 25.59). All genotyped farm-bred platinum foxes from Russia and the US were heterozygous for the SNP (A/G), whereas foxes with different coat colors were homozygous for the G allele. Identification of the platinum mutation suggests that other fox white-spotting phenotypes, which are allelic to platinum, would also be caused by mutations in the KIT gene.