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该基因的多态性及其与中国黄羽鹌鹑羽毛色素沉着的关联。

Polymorphism in the gene and its association with feather pigmentation in Chinese yellow quail ().

作者信息

Zhang X, Wu F, Hu J, Ji X, Qi Y

机构信息

College of Animal Science, Henan University of Science and Technology, Luoyang, China.

Luoyang Key Laboratory of Animal Genetics and Breeding, Henan University of Science and Technology, Luoyang, China.

出版信息

Br Poult Sci. 2025 Feb 3:1-5. doi: 10.1080/00071668.2025.2451243.

Abstract
  1. Melan-A plays a key role in the development of the melanosome, making it a strong candidate for the pigmentation phenotype observed in animals. The main purpose of this study was to analyse the relationship between gene polymorphisms and tyrosinase (TYR) enzyme activity in skin tissues and melanin content in dorsal down feathers of Chinese yellow quail.2. The coding sequence region of mRNA was cloned and sequenced to detect polymorphisms. The melanin content in down feathers of 266 Chinese yellow quails was analysed by spectrophotometry, and TYR enzyme activity was measured in dorsal skin tissues. The expression of mRNA in skin tissues of individuals with different genotypes was analysed using RT-qPCR.3. One non-synonymous single nucleotide polymorphisms (NSSNP; c.218T/A) was identified, which resulted in a Leu36Val mutation in the transmembrane helix region of the MLANA protein. This NSSNP significantly reduced the expression level of mRNA and TYR enzyme activity in dorsal skin tissues, leading to a significant reduction in melanin content in down feathers.4. The c.218T/A locus of the gene is closely related to the pigmentation TYR of the down feathers in Chinese yellow quail and can be used as a molecular marker locus for breeding pure feather colour in quail.
摘要
  1. Melan - A在黑素小体的形成过程中起关键作用,使其成为在动物中观察到的色素沉着表型的有力候选者。本研究的主要目的是分析中国黄羽鹌鹑皮肤组织中基因多态性与酪氨酸酶(TYR)活性以及背部绒羽中黑色素含量之间的关系。

  2. 克隆并测序mRNA的编码序列区域以检测多态性。采用分光光度法分析266只中国黄羽鹌鹑绒羽中的黑色素含量,并测定背部皮肤组织中的TYR酶活性。使用RT - qPCR分析不同基因型个体皮肤组织中mRNA的表达。

  3. 鉴定出一个非同义单核苷酸多态性(NSSNP;c.218T/A),其导致MLANA蛋白跨膜螺旋区域出现Leu36Val突变。该NSSNP显著降低了背部皮肤组织中mRNA的表达水平和TYR酶活性,导致绒羽中黑色素含量显著降低。

  4. 基因的c.218T/A位点与中国黄羽鹌鹑绒羽的色素沉着TYR密切相关,可作为鹌鹑纯羽色育种的分子标记位点。

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