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首页> 外文期刊>Journal of Animal and Feed Sciences >Novel polymorphisms detected in the prolactin receptor gene of Yili horse (Equus caballus) by PCR-SSCP.
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Novel polymorphisms detected in the prolactin receptor gene of Yili horse (Equus caballus) by PCR-SSCP.

机译：通过PCR-SSCP在伊犁马催乳素催乳素受体基因中检测到新的多态性。

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摘要

The prolactin receptor (PRLR) is a receptor for a polypeptide hormone that stimulates mammary gland development and lactation in mammals. Associations between the PRLR genotype and cow and goat milk traits have been reported. To date, the nucleotide polymorphisms within the PRLR gene in equine species have not been investigated. Single-nucleotide polymorphism (SNP) is the most abundant form of genetic variation and a resource for useful genetic traits. In the present study, SNPs within the coding regions of the PRLR gene were detected by polymerase chain reaction-single-strand conformation polymorphism (SSCP) and DNA sequencing on the Yili horse of China. Ten novel SNPs were identified in the PRLR gene: one located within exon 4 (XM_001500104: c.156 C>T); one within exon 5 (c.312 T>C); and eight within exon 10 (c.1062 T>C, c.1083 G>A, c.1226 A>C, c.1233 C>T, c.1279 C>A, c.1749 A>T, c.1764 G>C, and c.1778 T>A). The mutation allele frequencies and effective allele numbers ranged from 0.10 to 0.30 and from 1.2195 to 1.7240, respectively. Four of the identified SNPs are non-synonymous and involve four amino acid substitutions, namely, p.H409P (c.1226 A>C), p.H427N (c.1279 C>A), p.Q588H (c.1764 G>C), and p.I593K (c.1778 T>A), in the cytoplasmic domain of the PRLR, which plays a fundamental role in signal transduction. Theoretically, the four nucleotide substitutions would result in altered spatial structure and functions of the PRLR molecules. Further study is required, however, to determine whether these mutations affect the milk yield of the Yili horse.
机译：催乳素受体（PRLR）是一种多肽激素的受体，可刺激哺乳动物的乳腺发育和泌乳。已经报道了PRLR基因型与牛和山羊乳性状之间的关联。迄今为止，尚未研究马种中PRLR基因内的核苷酸多态性。单核苷酸多态性（SNP）是遗传变异中最丰富的形式，也是有用的遗传性状资源。在本研究中，通过聚合酶链反应-单链构象多态性（SSCP）和中国伊犁马的DNA测序检测PRLR基因编码区内的SNP。在PRLR基因中鉴定出十个新的SNP：一个位于外显子4（XM_001500104：c.156 C> T）中;另一个位于外显子4中。外显子5中的一个（c.312 T> C）;外显子10中的八个（c.1062 T> C，c.1083 G> A，c.1226 A> C，c.1233 C> T，c.1279 C> A，c.1749 A> T，c。 1764 G> C，和c.1778 T> A）。突变等位基因频率和有效等位基因数目分别为0.10至0.30和1.2195至1.7240。所鉴定的SNP中有四个不是同义的，并且涉及四个氨基酸取代，即p.H409P（c.1226 A> C），p.H427N（c.1279 C> A），p.Q588H（c.1764 G > C）和PRLR的胞质结构域中的p.I593K（c.1778 T> A），在信号转导中起着基本作用。从理论上讲，四个核苷酸取代将导致PRLR分子的空间结构和功能发生变化。但是，需要进一步研究以确定这些突变是否影响伊利马的产奶量。

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