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首页> 外文期刊>Molecular biology reports >Identification of single nucleotide polymorphisms in the agouti signaling protein (ASIP) gene in some goat breeds in tropical and temperate climates
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Identification of single nucleotide polymorphisms in the agouti signaling protein (ASIP) gene in some goat breeds in tropical and temperate climates

机译：在热带和温带气候下，某些山羊品种的刺豚鼠信号蛋白（ASIP）基因中的单核苷酸多态性的鉴定

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The agouti-signaling protein (ASIP) plays a major role in mammalian pigmentation as an antagonist to melanocortin-1 receptor gene to stimulate pheomelanin synthesis, a major pigment conferring mammalian coat color. We sequenced a 352 bp fragment of ASIP gene spanning part of exon 2 and part of intron 2 in 215 animals representing six goat breeds from Nigeria and the United States: West African Dwarf, predominantly black; Red Sokoto, mostly red; and Sahel, mostly white from Nigeria; black and white Alpine, brown and white Spanish and white Saanen from the US. Twenty haplotypes from nine mutations representing three intronic, one silent and five missense (p.S19R, p.N35K, p.L36V, p.M42L and p.L45W) mutations were identified in Nigerian goats. Approximately 89 % of Nigerian goats carry haplotype 1 (TGCCATCCG) which seems to be the wild type configuration of mutations in this region of the gene. Although we found no association between these polymorphisms in the ASIP gene and coat color in Nigerian goats, in-silico functional analysis predicts putative deleterious functional impact of the p.L45W mutation on the basic amino-terminal domain of ASIP. In the American goats, two intronic mutations, g.293G > A and g.327C > A, were identified in the Alpine breed, although the g.293G > A mutation is common to American and Nigerian goat populations. All Sannen and Sahel goats in this study belong to haplotypes 1 of both populations which seem to be the wild-type composite ASIP haplotype. Overall, there was no clear association of this portion of the ASIP gene interrogated in this study with coat color variation. Therefore, additional genomic analyses of promoter sequence, the entire coding and non-coding regions of the ASIP gene will be required to obtain a definite conclusion.
机译：刺骨信号蛋白（ASIP）在哺乳动物色素沉着中起主要作用，作为黑皮质素-1受体基因的拮抗剂来刺激苯丙氨酸合成，后者是赋予哺乳动物毛色的主要色素。我们在代表来自尼日利亚和美国的六个山羊品种的215只动物中对ASIP基因的352 bp片段进行了测序，该片段跨越部分外显子2和部分内含子2：西非矮人，主要是黑色;红色Sokoto，大部分为红色;萨赫勒地区，多数是尼日利亚白人。黑色和白色来自美国的高山，棕色和白色西班牙文和白色Saanen。在尼日利亚山羊中鉴定出代表三个内含子，一个沉默子和五个错义（p.S19R，p.N35K，p.L36V，p.M42L和p.L45W）的9个突变的20个单倍型。大约89％的尼日利亚山羊携带单倍型1（TGCCATCCG），这似乎是该基因区域中突变的野生型构型。尽管我们没有发现尼日利亚山羊的ASIP基因多态性与被毛颜色之间存在关联，但计算机内功能分析预测p.L45W突变对ASIP的基本氨基末端结构域可能具有有害的功能影响。在美洲山羊中，虽然美国和尼日利亚山羊种群中普遍存在g.293G> A突变，但在高山品种中发现了两个内含子突变，即g.293G> A和g.327C>A。在这项研究中，所有Sannen和Sahel山羊都属于两个种群的单倍型1，这似乎是野生型复合ASIP单倍型。总体而言，在这项研究中被询问的ASIP基因的这一部分与皮毛颜色变化没有明确的关联。因此，将需要对启动子序列，ASIP基因的整个编码区和非编码区进行其他基因组分析，以获得确定的结论。

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