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首页> 外文期刊>Small Ruminant Research >Polymorphisms in MC1R and ASIP genes and their association with coat color phenotypes in llamas (Lama glama)
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Polymorphisms in MC1R and ASIP genes and their association with coat color phenotypes in llamas (Lama glama)

机译：美洲驼MC1R和ASIP基因多态性及其与毛色表型的关系

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摘要

The melanocortin 1-receptor (MC1R) and the agouti signaling protein (ASIP) are the major genes controlling the type and location of pigments produced in mammals. In recent years, polymorphisms in these genes have been associated with coat color variation in a number of species. Llamas (Lama glama) are characterized by a great diversity of coat colors. However, the genetic basis of coat color determination is still unknown. Here, we sequenced the MC1R and ASIP genes in llamas and studied the association between the polymorphisms identified and the coat color. Sequence analysis revealed ten nonsynonymous single nucleotide polymorphisms in the MC1R gene. Three main haplotypes were identified, none of which were completely associated to a particular color phenotype. However, significant association was detected between the MC1R*1 haplotype and the presence of pigmented coat (P0.0001). Compared to the wild allele, MC1R*1 carried two amino acid substitutions, p.G126S and p.V87 M. This last replacement occurs at a highly conserved residue among mammals and the same substitution has been previously associated to melanic phenotypes in avian species. Furthermore, two polymorphisms in ASIP exon 4, a 57 by deletion (c.325_381de1) and c.292C > T that are both predicted to have a deleterious effect on the protein, were found in homozygous state or combined in most llamas with eumelanic coat. (C) 2016 Elsevier B.V. All rights reserved.
机译：黑皮质素1-受体（MC1R）和刺豚鼠信号蛋白（ASIP）是控制哺乳动物中产生的色素的类型和位置的主要基因。近年来，这些基因的多态性与许多物种的毛色变化有关。骆驼（Lama glama）的特征是外套颜色的多样性。但是，外套颜色确定的遗传基础仍然未知。在这里，我们对美洲驼中的MC1R和ASIP基因进行了测序，并研究了鉴定出的多态性与外套颜色之间的关联。序列分析揭示了MC1R基因中的十个非同义单核苷酸多态性。确定了三个主要的单倍型，没有一个与特定的颜色表型完全相关。但是，在MC1R * 1单倍型与有色涂层之间存在显着关联（P <0.0001）。与野生等位基因相比，MC1R * 1带有两个氨基酸取代，即p.G126S和p.V87M。最后一次取代发生在哺乳动物中高度保守的残基上，而先前相同的取代与禽类中的黑色素表型有关。此外，在ASIP外显子4中有两个多态性，分别是57个被删除的残基（c.325_381de1）和c.292C> T，它们均被认为对蛋白质具有有害作用，在纯合状态下发现，或在大多数美洲驼中带有真木兰外壳。 （C）2016 Elsevier B.V.保留所有权利。

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