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全基因组拷贝数变异分析揭示了与印度瘤牛生长性状相关的变异。

Genome-wide CNV analysis reveals variants associated with growth traits in Bos indicus.

作者信息

Zhou Yang, Utsunomiya Yuri T, Xu Lingyang, Hay El Hamidi Abdel, Bickhart Derek M, Alexandre Pamela Almeida, Rosen Benjamin D, Schroeder Steven G, Carvalheiro Roberto, de Rezende Neves Haroldo Henrique, Sonstegard Tad S, Van Tassell Curtis P, Ferraz José Bento Sterman, Fukumasu Heidge, Garcia Jose Fernando, Liu George E

机构信息

Animal Genomics and Improvement Laboratory, BARC, USDA-ARS, Room 111, BARC-East, Beltsville, Maryland, 20705, USA.

College of Animal Science and Technology, Northwest A&F University, Shaanxi Key Laboratory of Agricultural Molecular Biology, Yangling, Shaanxi, 712100, China.

出版信息

BMC Genomics. 2016 Jun 1;17:419. doi: 10.1186/s12864-016-2461-4.

Abstract

BACKGROUND

Apart from single nucleotide polymorphism (SNP), copy number variation (CNV) is another important type of genetic variation, which may affect growth traits and play key roles for the production of beef cattle. To date, no genome-wide association study (GWAS) for CNV and body traits in beef cattle has been reported, so the present study aimed to investigate this type of association in one of the most important cattle subspecies: Bos indicus (Nellore breed).

RESULTS

We have used intensity data from over 700,000 SNP probes across the bovine genome to detect common CNVs in a sample of 2230 Nellore cattle, and performed GWAS between the detected CNVs and nine growth traits. After filtering for frequency and length, a total of 231 CNVs ranging from 894 bp to 4,855,088 bp were kept and tested as predictors for each growth trait using linear regression analysis with principal components correction. There were 49 significant associations identified among 17 CNVs and seven body traits after false discovery rate correction (P < 0.05). Among the 17 CNVs, three were significant or marginally significant for all the traits. We have compared the locations of associated CNVs with quantitative trait locus and the RefGene database, and found two sets of 9 CNVs overlapping with either known QTLs or genes, respectively. The gene overlapping with CNV100, KCNJ12, is a functional candidate for muscle development and plays critical roles in muscling traits.

CONCLUSION

This study presents the first CNV-based GWAS of growth traits using high density SNP microarray data in cattle. We detected 17 CNVs significantly associated with seven growth traits and one of them (CNV100) may be involved in growth traits through KCNJ12.

摘要

背景

除单核苷酸多态性(SNP)外,拷贝数变异(CNV)是另一种重要的遗传变异类型,可能影响生长性状并在肉牛生产中发挥关键作用。迄今为止,尚未有关于肉牛CNV与体躯性状的全基因组关联研究(GWAS)报道,因此本研究旨在调查这一关联,研究对象为最重要的牛亚种之一:印度瘤牛(内洛尔牛品种)。

结果

我们利用牛基因组中超过70万个SNP探针的强度数据,在2230头内洛尔牛样本中检测常见的CNV,并对检测到的CNV与9个生长性状进行GWAS分析。经过频率和长度筛选后,共保留了231个长度在894 bp至4,855,088 bp之间的CNV,并使用主成分校正的线性回归分析将其作为每个生长性状的预测因子进行测试。在错误发现率校正后(P < 0.05),17个CNV与7个体躯性状之间共鉴定出49个显著关联。在这17个CNV中,有3个对所有性状均显著或接近显著。我们将相关CNV的位置与数量性状基因座和RefGene数据库进行了比较,发现两组分别有9个CNV与已知QTL或基因重叠。与CNV100重叠的基因KCNJ12是肌肉发育的功能候选基因,在肌肉性状中起关键作用。

结论

本研究首次利用牛高密度SNP微阵列数据对生长性状进行基于CNV的GWAS分析。我们检测到17个与7个生长性状显著相关的CNV,其中一个(CNV100)可能通过KCNJ12参与生长性状。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3a6/4888316/8e394a882982/12864_2016_2461_Fig3_HTML.jpg

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