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通过全基因组序列变异的基因组关联研究揭示肉牛数量性状的遗传结构:I:饲料效率和组成性状。

Genetic architecture of quantitative traits in beef cattle revealed by genome wide association studies of imputed whole genome sequence variants: I: feed efficiency and component traits.

机构信息

Lacombe Research and Development Centre, Agriculture and Agri-Food Canada, Lacombe, AB, Canada.

Department of Agricultural, Food and Nutritional Science, University of Alberta, Edmonton, AB, Canada.

出版信息

BMC Genomics. 2020 Jan 13;21(1):36. doi: 10.1186/s12864-019-6362-1.

Abstract

BACKGROUND

Genome wide association studies (GWAS) on residual feed intake (RFI) and its component traits including daily dry matter intake (DMI), average daily gain (ADG), and metabolic body weight (MWT) were conducted in a population of 7573 animals from multiple beef cattle breeds based on 7,853,211 imputed whole genome sequence variants. The GWAS results were used to elucidate genetic architectures of the feed efficiency related traits in beef cattle.

RESULTS

The DNA variant allele substitution effects approximated a bell-shaped distribution for all the traits while the distribution of additive genetic variances explained by single DNA variants followed a scaled inverse chi-squared distribution to a greater extent. With a threshold of P-value < 1.00E-05, 16, 72, 88, and 116 lead DNA variants on multiple chromosomes were significantly associated with RFI, DMI, ADG, and MWT, respectively. In addition, lead DNA variants with potentially large pleiotropic effects on DMI, ADG, and MWT were found on chromosomes 6, 14 and 20. On average, missense, 3'UTR, 5'UTR, and other regulatory region variants exhibited larger allele substitution effects in comparison to other functional classes. Intergenic and intron variants captured smaller proportions of additive genetic variance per DNA variant. Instead 3'UTR and synonymous variants explained a greater amount of genetic variance per DNA variant for all the traits examined while missense, 5'UTR and other regulatory region variants accounted for relatively more additive genetic variance per sequence variant for RFI and ADG, respectively. In total, 25 to 27 enriched cellular and molecular functions were identified with lipid metabolism and carbohydrate metabolism being the most significant for the feed efficiency traits.

CONCLUSIONS

RFI is controlled by many DNA variants with relatively small effects whereas DMI, ADG, and MWT are influenced by a few DNA variants with large effects and many DNA variants with small effects. Nucleotide polymorphisms in regulatory region and synonymous functional classes play a more important role per sequence variant in determining variation of the feed efficiency traits. The genetic architecture as revealed by the GWAS of the imputed 7,853,211 DNA variants will improve our understanding on the genetic control of feed efficiency traits in beef cattle.

摘要

背景

基于 7853211 个已导入的全基因组序列变体,对来自多个肉牛品种的 7573 头动物的剩余采食量 (RFI) 及其组成性状(包括每日干物质采食量 (DMI)、平均日增重 (ADG) 和代谢体重 (MWT))进行了全基因组关联研究 (GWAS)。GWAS 结果用于阐明肉牛饲料效率相关性状的遗传结构。

结果

所有性状的 DNA 变异等位基因替代效应均接近钟形分布,而单个 DNA 变异解释的加性遗传方差的分布在更大程度上遵循缩放逆卡方分布。当 P 值阈值 < 1.00E-05 时,16、72、88 和 116 个位于多个染色体上的先导 DNA 变异与 RFI、DMI、ADG 和 MWT 分别显著相关。此外,在 6、14 和 20 号染色体上发现了对 DMI、ADG 和 MWT 具有潜在大多效性影响的先导 DNA 变异。平均而言,错义、3'UTR、5'UTR 和其他调控区变异的等位基因替代效应大于其他功能类别。内含子和基因间变异每个 DNA 变异的加性遗传方差比例较小。相反,3'UTR 和同义变异对所有检查性状的每个 DNA 变异解释了更大的遗传方差,而错义、5'UTR 和其他调控区变异对 RFI 和 ADG 的每个序列变异分别解释了相对更多的加性遗传方差。总共确定了 25 到 27 个丰富的细胞和分子功能,其中脂质代谢和碳水化合物代谢对饲料效率性状最为重要。

结论

RFI 受许多相对较小效应的 DNA 变异控制,而 DMI、ADG 和 MWT 则受少数大效应和许多小效应的 DNA 变异影响。调控区和同义功能类别的核苷酸多态性在决定饲料效率性状变异方面,每个序列变异的作用更为重要。通过对已导入的 7853211 个 DNA 变异进行 GWAS 揭示的遗传结构将提高我们对肉牛饲料效率性状遗传控制的理解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f668/6956504/ed2d543dc112/12864_2019_6362_Fig1_HTML.jpg

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