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检测和描述大量商业美国霍尔斯坦牛群的复制号变异

Giovanni C Ladeira¹, Pablo J Pinedo², José E P Santos¹

¹Department of Animal Sciences, University of Florida, 2250 Shealy Drive, PO Box 110910, Gainesville, FL, 32611, USA.

|April 16, 2025

概括

荷尔斯坦牛的复制数变化 (CNV) 影响经济上重要的特征,如牛奶产量和健康. 这些遗传变异为改善乳牛育种计划和基因组选择策略提供了新的途径.

科学领域:

基因组学就是基因组学.
动物遗传学动物遗传学
乳牛养殖乳牛养殖乳牛养殖

背景情况:

副本数变异 (CNVs) 是基因组变异的重要来源,通过改变基因表达和剂量影响生物过程.
涉及超过1千基的删除和重复的CNVs在整个牲畜基因组中发现.
这项研究研究了大量的荷尔斯坦牛群中的CNV,以了解它们在经济上重要的特征中的作用.

研究的目的:

在一个大型的荷尔斯坦乳牛群中绘制和描述全基因组复制数变异 (CNVs).
探索已识别的CNV与定量特征位点 (QTLs),基因和生物通路的关联.
阐明CNV对乳牛经济重要特征的潜在生物学贡献,并为育种计划提供信息.

主要方法:

高密度单核酸多态化 (SNP) 基因型化阵列数据来自3,601只霍尔斯坦牛,用于绘制CNV.
已识别的CNV被分析为它们在牛自身染色体中的分布.
研究了CNV,编译的CNV区域 (CNVR) 和已知的QTL,基因和生物通路之间的关联.

主要成果:

确定了4,113个高度可靠的CNV,其中78%的缺失和22%的重复,分布在所有牛自身染色体上.
编制了1184个CNV区域 (CNVR),包括199个新区域,覆盖了3.02%的自体基因组.
CNVR重叠了140个经济重要特征,2,788个注释基因 (例如,DGAT1,AFF1,ADAMTS13),以及与代谢,免疫反应和细胞功能有关的丰富的GO术语,突出了它们对牛健康和繁殖的相关性.

结论:

用高密度SNP数组在一个大的霍尔斯坦人群中绘制和表征全基因组的CNV.
CNVs代表了遗传变异的宝贵来源,增强了对乳牛复杂经济特征的遗传结构的理解.
这些发现表明,有机会为霍尔斯坦牛开发新的和改进的基因组选择策略.

关键词:

乳牛牛奶牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛牛丰富分析是一种丰富分析.整个基因组的映射.结构变化的结构变化.

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Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...