Yu Y, Grahn R A, Lyons L A
Department of Clinical Veterinary Medicine, Nippon Veterinary and Life Science University, Musashino, Tokyo, 180-8602, Japan.
Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri - Columbia, Columbia, MO, 65201, USA.
Anim Genet. 2019 Apr;50(2):182-186. doi: 10.1111/age.12765. Epub 2019 Feb 4.
A novel coloration named 'mocha' has been identified in the Burmese cat breed from Thailand. Tyrosinase (TYR) mutations are known to be associated with coat coloration in cats, such as the sable Burmese, the points of the Siamese and albino cats. Additionally, sable Burmese that produced mocha-colored cats had unexpected genotypes for TYR. Therefore, TYR was considered a candidate gene for mocha in cats. Sanger sequencing for genomic DNA revealed NC_018732.3:chromosome D1:45 898 609_45 898 771dup in exon 2 and intron 2 of TYR. Transcription analysis using cDNA detected c.820_936delinsAATCTC (p.I274_L312delinsNL), which caused a 111-bp (37 amino acid) deletion in the reading frame of TYR. The identified variant was concordant with the phenotype and segregated with TYR variants in a pedigree of 12 Burmese cats. This findings of this study suggest that TYR is associated with the mocha coloration in cats. The new color variant adds to the allelic series for TYR (C > c = c > c, c ) and is recessive to full color (C); however, interactions with the c and c alleles are unclear due to the temperature-sensitivity of the alleles.
在来自泰国的缅甸猫品种中发现了一种名为“摩卡”的新毛色。已知酪氨酸酶(TYR)突变与猫的毛色有关,比如貂色缅甸猫、暹罗猫和白化猫的色斑。此外,繁育出摩卡色小猫的貂色缅甸猫具有意想不到的TYR基因型。因此,TYR被认为是猫中摩卡毛色的候选基因。对基因组DNA进行桑格测序,结果显示在TYR基因的外显子2和内含子2中存在NC_018732.3:染色体D1:45 898 609_45 898 771dup。使用cDNA进行转录分析检测到c.820_936delinsAATCTC(p.I274_L312delinsNL),这导致TYR阅读框中出现111个碱基对(37个氨基酸)的缺失。所鉴定的变异与表型一致,并在一个由12只缅甸猫组成的家系中与TYR变异一起分离。本研究的这些发现表明,TYR与猫的摩卡毛色有关。这种新的毛色变异增加了TYR的等位基因系列(C>c^b = c^s > c^a, c),并且对全色(C)呈隐性;然而,由于这些等位基因的温度敏感性,它们与c^b和c^s等位基因的相互作用尚不清楚。