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山羊P2RY12-P2RY13单倍型渗入鉴定及其功能分析OACSTPCD

Introgressed Identification and Functional Analysis of P2RY12-P2RY13 Haplotype in Goats

中文摘要英文摘要

基因渗入对动物的驯化以及适应性的提高起到了至关重要的作用.该研究收集了世界范围内共163只现代家山羊、81只古代家山羊以及69只山羊野生近缘种的基因组数据,进行全基因组遗传变异检测、构建Neighbor-joining树、单倍型网络图以及蛋白质结构预测.我们发现家山羊基因组chr1:116 312 kb~116 397 kb区域内存在来自阿尔卑斯北山羊或伊比利亚北山羊的渗入.这段长达85 kb的渗入单倍型包含2个与乳腺炎相关的蛋白编码基因P2RY12和P2RY13,其中P2RY12基因上来自渗入单倍型的变异Pro317Ser导致了蛋白质末端α—螺旋的增长,该渗入单倍型主要存在于欧洲和非洲的现代家山羊群体中,频率分别为52.1%和32.1%.通过对古代样本进行分析,推测该单倍型的渗入最早发生于3 000 a前的欧洲地区,可能由于对泌乳性状的选择而导致其频率升高并扩散至非洲地区.该研究为家山羊基因组中P2RY12-P2RY13单倍型的来源与功能提供了新的见解.

Gene introgression plays a crucial role in the domestication of animals and the improvement of adaptability.In this study,the genomic data from a total of 163 modern domestic goats,81 ancient do-mestic goats,and 69 goat wild relatives worldwide were collected for whole-genome genetic variation de-tection,Neighbor-joining tree construction,haplotype network map and protein structure prediction.The introgression in the domestic goat genome chr1:116 312 kb~116 397 kb region from Capra ibex or Capra pyrenaica was found.This 85 kb-long introgressed haplotype contains two protein-coding genes associated with mastitis,P2RY12 and P2RY13,where the variant Pro317Ser from the introgressed haplotype on the P2RY12 gene causes the growth of the protein-terminal α-helix.It is found that the introgressed haplotype is mainly present in the modern goat populations in Europe and Africa,with a frequency of 52.1%and 32.1%,respectively.By analyzing ancient samples,it is speculated that the introgression of this haplotype first occurred in Europe 3 000 years ago,and may have increased its frequency and spread to Africa due to the selection of lactation traits.The results of this study provide new insights into the origin and function of the P2RY12-P2RY13 haplotype in the genome of domestic goats.

刘晓懿;蔡钰东;郑惠玲;姜雨

西北农林科技大学动物科技学院,陕西杨凌 712100

畜牧业

山羊渗入基因组古代DNA

goatintrogressiongenomeancient DNA

《家畜生态学报》 2024 (001)

9-15 / 7

陕西省畜禽育种"两链融合"重点专项;陕西省重点研发项目(2022ZDLNY01-02)

10.3969/j.issn.1673-1182.2024.01.002

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