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首页> 外文期刊>Animal Genetics >De novo mutation of KIT discovered as a result of a non-hereditary white coat colour pattern
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De novo mutation of KIT discovered as a result of a non-hereditary white coat colour pattern

机译：由于非遗传性白大衣颜色图案而发现的KIT从头突变

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摘要

SummaryA new dominant white allele was suspected when two Thoroughbred horses with minimal white marking on the coat produced a colt with a large amount of coat depigmentation. Because of its association with similar patterns in other horses, the KIT gene was selected as a candidate gene, and all 21 exons were sequenced in the colt. A novel 5-bp deletion was discovered in exon 3 and was confirmed with allele-specific PCR. The mutation introduced a pre-mature stop codon, resulting in truncation of the protein. The deletion was not present in either parent and is suspected to be responsible for the extensive white coat colour in the colt. Additionally, a previously described missense mutation was detected in exon 14 of both the colt and sire but is not believe to be causative. Parentage testing was conducted as required by The Jockey Club for Thoroughbred registration, and the foal qualified for the stated parentage. This novel deletion in exon 3 is the 12th discovered dominant white allele in the horse.
机译：总结当两匹纯种马的外套上带有最少白色标记时，产生了大量的外套色素沉着的小马驹，怀疑是一个新的显性白色等位基因。由于它与其他马中的相似模式相关联，因此选择了KIT基因作为候选基因，并在驹子中对所有21个外显子进行了测序。在外显子3中发现了一个新的5-bp缺失，并通过等位基因特异性PCR得以证实。突变引入了提前终止密码子，导致蛋白质被截短。父母双方均不存在该缺失，并且怀疑是造成马驹的白色大衣颜色的原因。另外，在柯尔特和父亲的第14外显子中都检测到了先前描述的错义突变，但据信这不是诱因。根据赛马俱乐部进行的纯种注册要求进行了亲子鉴定，并且该小马驹符合所述亲子鉴定的条件。外显子3中的这种新颖的缺失是在马中发现的第12个显性​​白色等位基因。

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  • 来源
    《Animal Genetics》 |2010年第2期|p.196-198|共3页
  • 作者

    H. Holl; S. Brooks; E. Bailey;

  • 作者单位

    Department of Animal Science, Cornell University, Ithaca, NY 14853, USA.;

    Department of Animal Science, Cornell University, Ithaca, NY 14853, USA.;

    Department of Veterinary Science, University of Kentucky, Lexington, KY 40546, USA;

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  • 关键词

    coat colour; equine; gastric ulcer; hepatitis; horse; KIT;

    机译：毛色;马;胃溃疡;肝炎;马;KIT;

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