基于全基因组序列的八品种杂交合成系猪关联分析揭示骨骼肌纤维特征的遗传基础。

Whole-genome sequence-based association analyses on an eight-breed crossed heterogeneous stock of pigs reveal the genetic basis of skeletal muscle fiber characteristics.

作者信息

Huang Yizhong, Cai Liping, Duan Yanyu, Zeng Qingjie, He Maozhang, Wu Zhongping, Zou Xiaoxiao, Zhou Mengqing, Zhang Zhou, Xiao Shijun, Yang Bin, Ma Junwu, Huang Lusheng

机构信息

State Key Laboratory for Swine Genetics, Breeding and Production Technology, Jiangxi Agricultural University, Nanchang 330045, China.

出版信息

Meat Sci. 2022 Dec;194:108974. doi: 10.1016/j.meatsci.2022.108974. Epub 2022 Sep 9.

DOI:10.1016/j.meatsci.2022.108974

PMID:36167013

Abstract

Skeletal muscle fiber characteristics (MFCs) have been extensively studied due to their importance to human health and athletic ability, as well as to the quantity and quality of livestock meat production. Hence, we performed a genome-wide association study (GWAS) on nine muscle fiber traits by using whole genome sequence data in an eight-breed crossed heterogeneous stock pig population. This GWAS revealed 67 quantitative trait loci (QTLs) for these traits. The most significant GWAS signal was detected in the region of Sus scrofa chromosome 12 (SSC12) containing the MYH gene family. Notably, we identified a significant SNP rs322008693 (P = 7.52E-09) as the most likely causal mutation for the total number of muscle fibers (TNMF) QTL on SSC1. The results of EMSA and luciferase assays indicated that the rs322008693 SNP resided in a functional element. These findings provide valuable molecular markers for pig meat production selection as well as for deciphering the genetic mechanisms of the muscle fiber physiology.

摘要

由于骨骼肌纤维特征（MFCs）对人类健康和运动能力以及家畜肉类生产的数量和质量具有重要意义，因此已对其进行了广泛研究。因此，我们利用八品种杂交异质猪群的全基因组序列数据，对九个肌肉纤维性状进行了全基因组关联研究（GWAS）。该GWAS揭示了这些性状的67个数量性状位点（QTL）。在包含MYH基因家族的猪12号染色体（SSC12）区域检测到最显著的GWAS信号。值得注意的是，我们确定了一个显著的单核苷酸多态性rs322008693（P = 7.52E-09），它是SSC1上肌肉纤维总数（TNMF）QTL最可能的因果突变。电泳迁移率变动分析（EMSA）和荧光素酶检测结果表明，rs322008693单核苷酸多态性位于一个功能元件中。这些发现为猪肉生产选择提供了有价值的分子标记，也为解读肌肉纤维生理的遗传机制提供了帮助。