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SINE 插入导致家犬出现黑褐色和鞍褐色表型。

A SINE insertion causes the black-and-tan and saddle tan phenotypes in domestic dogs.

机构信息

Department of Animal and Poultry Science, University of Saskatchewan, Saskatoon, Canada.

出版信息

J Hered. 2011 Sep-Oct;102 Suppl 1:S11-8. doi: 10.1093/jhered/esr042.

DOI:10.1093/jhered/esr042
PMID:21846741
Abstract

Agouti Signaling Protein (ASIP) controls the localized expression of red and black pigment in the domestic dog through interaction with other genes, such as Melanocortin 1 Receptor and Beta-Defensin 103. Specific ASIP alleles are necessary for many of the coat color patterns, such as black-and-tan and saddle tan. Mutations in 2 ASIP alleles, a(y) and a, have previously been identified. Here, we characterize a mutation consisting of a short interspersed nuclear element (SINE) insertion in intron 1 of ASIP that allows for the differentiation of the a(w) wolf sable and a(t) black-and-tan alleles. The SINE insertion is present in dogs with the a(t) and a alleles but absent from dogs with the a(w) and a(y) alleles. Dogs with the saddle tan phenotype were all a(t)/a(t). Schnauzers were all a(w)/a(w). Genotypes of 201 dogs of 35 breeds suggest that there are only 4 ASIP alleles, as opposed to the 5 or 6 predicted in previous literature. These data demonstrate that the dominance hierarchy of ASIP is a(y) > a(w) > a(t) > a.

摘要

Agouti 信号蛋白(ASIP)通过与其他基因(如黑素皮质素 1 受体和β-防御素 103)相互作用,控制着家犬中红色和黑色色素的局部表达。特定的 ASIP 等位基因对于许多毛色模式是必需的,例如黑褐色和鞍褐色。以前已经确定了 2 个 ASIP 等位基因(a(y)和 a)的突变。在这里,我们描述了一个由短散在核元件(SINE)插入 ASIP 内含子 1 引起的突变,该突变允许区分 a(w)狼貂色和 a(t)黑褐色等位基因。SINE 插入存在于具有 a(t)和 a 等位基因的狗中,但不存在于具有 a(w)和 a(y)等位基因的狗中。具有鞍褐色表型的狗均为 a(t)/a(t)。雪纳瑞均为 a(w)/a(w)。35 个品种的 201 只狗的基因型表明,只有 4 种 ASIP 等位基因,而不是以前文献中预测的 5 种或 6 种。这些数据表明,ASIP 的显性等级是 a(y) > a(w) > a(t) > a。

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