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牛种间、牛亚种间及非洲杂种牛的群体分化拷贝数变异。

Population differentiated copy number variation of Bos taurus, Bos indicus and their African hybrids.

机构信息

Interdisciplinary Program in Bioinformatics, Seoul National University, Seoul, Republic of Korea.

Addis Ababa University, MCMB Department, Addis Ababa, Ethiopia.

出版信息

BMC Genomics. 2021 Jul 12;22(1):531. doi: 10.1186/s12864-021-07808-7.

Abstract

BACKGROUND

CNV comprises a large proportion in cattle genome and is associated with various traits. However, there were few population-scale comparison studies on cattle CNV.

RESULTS

Here, autosome-wide CNVs were called by read depth of NGS alignment result and copy number variation regions (CNVRs) defined from 102 Eurasian taurine (EAT) of 14 breeds, 28 Asian indicine (ASI) of 6 breeds, 22 African taurine (AFT) of 2 breeds, and 184 African humped cattle (AFH) of 17 breeds. The copy number of every CNVRs were compared between populations and CNVRs with population differentiated copy numbers were sorted out using the pairwise statistics V and Kruskal-Wallis test. Three hundred sixty-two of CNVRs were significantly differentiated in both statistics and 313 genes were located on the population differentiated CNVRs.

CONCLUSION

For some of these genes, the averages of copy numbers were also different between populations and these may be candidate genes under selection. These include olfactory receptors, pathogen-resistance, parasite-resistance, heat tolerance and productivity related genes. Furthermore, breed- and individual-level comparison was performed using the presence or copy number of the autosomal CNVRs. Our findings were based on identification of CNVs from short Illumina reads of 336 individuals and 39 breeds, which to our knowledge is the largest dataset for this type of analysis and revealed important CNVs that may play a role in cattle adaption to various environments.

摘要

背景

CNV 在牛基因组中占很大比例,与各种性状相关。然而,关于牛 CNV 的群体规模比较研究较少。

结果

在这里,通过 NGS 比对结果的读深调用常染色体全基因组 CNV,并从 14 个品种的 102 头欧亚牛(EAT)、6 个品种的 28 头亚洲瘤牛(ASI)、2 个品种的 22 头非洲牛(AFT)和 17 个品种的 184 头非洲瘤牛(AFH)中定义了拷贝数变异区域(CNVR)。比较了每个 CNVR 在群体之间的拷贝数,并使用成对统计量 V 和 Kruskal-Wallis 检验对具有群体分化拷贝数的 CNVR 进行了排序。在这两种统计学方法中,有 362 个 CNVR 存在显著差异,其中 313 个基因位于群体分化的 CNVR 上。

结论

对于其中一些基因,其拷贝数在群体之间也存在差异,这些基因可能是受选择影响的候选基因。这些基因包括嗅觉受体、抗病性、寄生虫抗性、耐热性和生产力相关基因。此外,还使用常染色体 CNVR 的存在或拷贝数对个体和群体进行了比较。我们的研究结果是基于对 336 个个体和 39 个品种的短 Illumina 读取序列中的 CNV 进行鉴定,这是此类分析中最大的数据集,揭示了可能在牛适应各种环境中发挥作用的重要 CNV。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ae9f/8276479/6ae6ef5d1d25/12864_2021_7808_Fig1_HTML.jpg

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