Coat color genotypes and risk and severity of melanoma in gray quarter horses.
Coat color genotypes and risk and severity of melanoma in gray quarter horses.
复制标题
DOI：
10.1111/jvim.12133
复制
发表时间：
2013-09
影响因子：
2.6
通讯作者：
Raffaella B Teixeira;Aaron Rendahl;S. Anderson;James R. Mickelson;D. Sigler;B. Buchanan;R. Coleman;Molly E. McCue
中科院分区：
文献类型：
--
作者：
Raffaella B Teixeira;Aaron Rendahl;S. Anderson;James R. Mickelson;D. Sigler;B. Buchanan;R. Coleman;Molly E. McCue
马的变灰和黑色素瘤的形成最近都与STX17基因的重复有关。这种重复，以及ASIP基因的突变，增加了MC1R通路的信号，影响了灰马患黑色素瘤的风险和严重程度。目的：确定灰色四分之一马（QH）的黑色素瘤易感性是否低于其他品种的灰色马，因为MC1R栗色等位基因在QH人群中的高发病率导致MC1R信号减少。动物共335只有或没有皮肤黑色素瘤的灰色QH。方法采集所有马的血液或毛根标本，提取STX17、ASIP和MC1R基因型DNA并分型。记录年龄、性别和外部黑色素瘤的存在和分级。通过候选基因关联评估年龄和基因型对黑色素瘤存在和严重程度的影响。结果：该QH队列的黑色素瘤患病率（16%）和等级（0.35）低于其他品种的报道。年龄与黑色素瘤患病率（P = 5.28 × 10(-11)）和严重程度（P = 2.2 × 10(-13)）显著相关。未发现MC1R基因型对黑色素瘤患病率或严重程度有显著影响。未发现ASIP基因型对黑色素瘤风险的影响。低STX17纯合性妨碍了灰色等位基因效应的评价。结论和临床重要性：该灰色QH人群中黑色素瘤的患病率和严重程度低于其他品种的报道。这可能是由于STX17不常见的纯合性，MC1R突变对黑色素瘤ASIP增强的缓解作用，MC1R信号通路中的其他基因，或品种遗传背景的差异。
BACKGROUND Both graying and melanoma formation in horses have recently been linked to a duplication in the STX17 gene. This duplication, as well as a mutation in the ASIP gene that increases MC1R pathway signaling, affects melanoma risk and severity in gray horses. OBJECTIVE To determine if melanoma susceptibility in gray Quarter Horses (QH) is lower than gray horses from other breeds because of decreased MC1R signaling resulting from a high incidence of the MC1R chestnut coat color allele in the QH population. ANIMALS A total of 335 gray QH with and without dermal melanomas. METHODS Blood or hair root samples were collected from all horses for DNA extraction and genotyping for STX17, ASIP, and MC1R genotypes. Age, sex, and external melanoma presence and grade were recorded. The effect of age and genotype on melanoma presence and severity was evaluated by candidate gene association. RESULTS Melanoma prevalence (16%) and grade (0.35) in this QH cohort was lower than that reported in other breeds. Age was significantly associated with melanoma prevalence (P = 5.28 × 10(-11)) and severity (P = 2.2 × 10(-13)). No significant effect of MC1R genotype on melanoma prevalence or severity was identified. An effect of ASIP genotype on melanoma risk was not detected. Low STX17 homozygosity precluded evaluation of the gray allele effect. CONCLUSION AND CLINICAL IMPORTANCE Melanoma prevalence and severity is lower in this population of gray QH than what is reported in other breeds. This could be because of the infrequent STX17 homozygosity, a mitigating effect of the MC1R mutation on ASIP potentiation of melanoma, other genes in the MC1R signaling pathway, or differences in breed genetic background.