Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation.
Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation.
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DOI：
10.1111/j.1365-2052.2005.01409.x
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发表时间：
2006-04
期刊：
影响因子：
2.4
通讯作者：
Lyons LA
中科院分区：
文献类型：
--
作者：
Imes DL;Geary LA;Grahn RA;Lyons LA
白化病的表型在包括家猫在内的各种物种中都有记录。由于其他物种的白化表型与酪氨酸酶(TYR)突变相关，TYR基因被认为是猫白化病的候选基因。通过连锁分析和序列分析，对一个分离白化病的东方短毛猫家系和Colourpoint Shoreair家系与TYR的关联进行了分析。对与TYR和TYR序列变异紧密连锁的微卫星FCA931进行了白化表型的分离检测。对野生型和白化猫基因组DNA的序列分析发现，TYR在外显子2的975位处存在胞嘧啶缺失，这导致了突变下游9个残基的提前终止密码子。TYR的缺失突变和FCA931的一个等位基因的分离与白化表型一致。综上所述，我们的结果表明，TYR基因与猫的颜色基因座相对应，其等位基因从显性到隐性依次为：C(全色)&Gt；CB(缅甸人)≥cs(暹罗人)&Gt；c(白化)。
Albino phenotypes are documented in a variety of species including the domestic cat. As albino phenotypes in other species are associated with tyrosinase (TYR) mutations, TYR was proposed as a candidate gene for albinism in cats. An Oriental and Colourpoint Shorthair cat pedigree segregating for albinism was analysed for association with TYR by linkage and sequence analyses. Microsatellite FCA931, which is closely linked to TYR and TYR sequence variants were tested for segregation with the albinism phenotype. Sequence analysis of genomic DNA from wild-type and albino cats identified a cytosine deletion in TYR at position 975 in exon 2, which causes a frame shift resulting in a premature stop codon nine residues downstream from the mutation. The deletion mutation in TYR and an allele of FCA931 segregated concordantly with the albino phenotype. Taken together, our results suggest that the TYR gene corresponds to the colour locus in cats and its alleles, from dominant to recessive, are as follows: C (full colour) > cb (burmese) ≥ cs (siamese) > c (albino).
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影响因子：
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