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通过大规模平行测序对韩国本土牛和荷斯坦奶牛品种进行全基因组分析。

Whole-genome analyses of Korean native and Holstein cattle breeds by massively parallel sequencing.

作者信息

Choi Jung-Woo, Liao Xiaoping, Stothard Paul, Chung Won-Hyong, Jeon Heoyn-Jeong, Miller Stephen P, Choi So-Young, Lee Jeong-Koo, Yang Bokyoung, Lee Kyung-Tai, Han Kwang-Jin, Kim Hyeong-Cheol, Jeong Dongkee, Oh Jae-Don, Kim Namshin, Kim Tae-Hun, Lee Hak-Kyo, Lee Sung-Jin

机构信息

Centre for Genetic Improvement of Livestock, Animal & Poultry Science, University of Guelph, Guelph, Ontario, Canada; Division of Animal Genomics and Bioinformatics, National Institute of Animal Science, Rural Development Administration, Suwon, Republic of Korea.

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

出版信息

PLoS One. 2014 Jul 3;9(7):e101127. doi: 10.1371/journal.pone.0101127. eCollection 2014.

Abstract

A main goal of cattle genomics is to identify DNA differences that account for variations in economically important traits. In this study, we performed whole-genome analyses of three important cattle breeds in Korea--Hanwoo, Jeju Heugu, and Korean Holstein--using the Illumina HiSeq 2000 sequencing platform. We achieved 25.5-, 29.6-, and 29.5-fold coverage of the Hanwoo, Jeju Heugu, and Korean Holstein genomes, respectively, and identified a total of 10.4 million single nucleotide polymorphisms (SNPs), of which 54.12% were found to be novel. We also detected 1,063,267 insertions-deletions (InDels) across the genomes (78.92% novel). Annotations of the datasets identified a total of 31,503 nonsynonymous SNPs and 859 frameshift InDels that could affect phenotypic variations in traits of interest. Furthermore, genome-wide copy number variation regions (CNVRs) were detected by comparing the Hanwoo, Jeju Heugu, and previously published Chikso genomes against that of Korean Holstein. A total of 992, 284, and 1881 CNVRs, respectively, were detected throughout the genome. Moreover, 53, 65, 45, and 82 putative regions of homozygosity (ROH) were identified in Hanwoo, Jeju Heugu, Chikso, and Korean Holstein respectively. The results of this study provide a valuable foundation for further investigations to dissect the molecular mechanisms underlying variation in economically important traits in cattle and to develop genetic markers for use in cattle breeding.

摘要

牛基因组学的一个主要目标是识别导致经济重要性状变异的DNA差异。在本研究中,我们使用Illumina HiSeq 2000测序平台对韩国的三个重要牛品种——韩牛、济州黑牛和韩国荷斯坦奶牛——进行了全基因组分析。我们分别实现了对韩牛、济州黑牛和韩国荷斯坦奶牛基因组25.5倍、29.6倍和29.5倍的覆盖,并总共鉴定出1040万个单核苷酸多态性(SNP),其中54.12%被发现是新的。我们还在全基因组中检测到1063267个插入缺失(InDel)(78.92%为新发现)。对数据集的注释总共鉴定出31503个非同义SNP和859个移码InDel,它们可能影响感兴趣性状的表型变异。此外,通过将韩牛、济州黑牛和先前发表的奇克索牛基因组与韩国荷斯坦奶牛基因组进行比较,检测到全基因组范围的拷贝数变异区域(CNVR)。在整个基因组中分别检测到992个、284个和1881个CNVR。此外,在韩牛、济州黑牛、奇克索牛和韩国荷斯坦奶牛中分别鉴定出53个、65个、45个和82个纯合性推定区域(ROH)。本研究结果为进一步研究剖析牛经济重要性状变异的分子机制以及开发用于牛育种的遗传标记提供了有价值的基础。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8e9/4081042/b9eddeebf0ee/pone.0101127.g001.jpg

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