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蒙古牛近端粒到端粒的基因组组装:对群体遗传变异和牛肉品质的影响

Near telomere-to-telomere genome assembly of Mongolian cattle: implications for population genetic variation and beef quality.

作者信息

Su Rina, Zhou Hao, Yang Wenhao, Moqir Sorgog, Ritu Xiji, Liu Lei, Shi Ying, Dong Ai, Bayier Menghe, Letu Yibu, Manxi Xin, Chulu Hasi, Nasenochir Narenhua, Meng He, Herrid Muren

机构信息

Grassland & Cattle Investment Co., Ltd., R&D Center, Hohhot 010000, Inner Mongolia.

School of Agriculture and Biology, Shanghai Jiao Tong University, Shanghai 200240, China.

出版信息

Gigascience. 2024 Jan 2;13. doi: 10.1093/gigascience/giae099.

Abstract

BACKGROUND

Mongolian cattle, a unique breed indigenous to China, represent valuable genetic resources and serve as important sources of meat and milk. However, there is a lack of high-quality genomes in cattle, which limits biological research and breeding improvement.

FINDINGS

In this study, we conducted whole-genome sequencing on a Mongolian bull. This effort yielded a 3.1 Gb Mongolian cattle genome sequence, with a BUSCO integrity assessment of 95.9%. The assembly achieved both contig N50 and scaffold N50 values of 110.9 Mb, with only 3 gaps identified across the entire genome. Additionally, we successfully assembled the Y chromosome among the 31 chromosomes. Notably, 3 chromosomes were identified as having telomeres at both ends. The annotation data include 54.31% repetitive sequences and 29,794 coding genes. Furthermore, a population genetic variation analysis was conducted on 332 individuals from 56 breeds, through which we identified variant loci and potentially discovered genes associated with the formation of marbling patterns in beef, predominantly located on chromosome 12.

CONCLUSIONS

This study produced a genome with high continuity, completeness, and accuracy, marking the first assembly and annotation of a near telomere-to-telomere genome in cattle. Based on this, we generated a variant database comprising 332 individuals. The assembly of the genome and the analysis of population variants provide significant insights into cattle evolution and enhance our understanding of breeding selection.

摘要

背景

蒙古牛是中国特有的品种,是宝贵的遗传资源,也是重要的肉奶来源。然而,牛的高质量基因组缺乏,这限制了生物学研究和育种改良。

研究结果

在本研究中,我们对一头蒙古公牛进行了全基因组测序。这项工作产生了一个31亿碱基对的蒙古牛基因组序列,BUSCO完整性评估为95.9%。该组装的重叠群N50和支架N50值均达到1.109亿碱基对,整个基因组仅发现3个缺口。此外,我们成功组装了31条染色体中的Y染色体。值得注意的是,有3条染色体两端都有端粒。注释数据包括54.31%的重复序列和29794个编码基因。此外,对来自56个品种的332个个体进行了群体遗传变异分析,通过该分析我们确定了变异位点,并潜在地发现了与牛肉大理石花纹形成相关的基因,主要位于12号染色体上。

结论

本研究产生了一个具有高连续性、完整性和准确性的基因组,标志着首次对牛的近端粒到端粒基因组进行组装和注释。基于此,我们生成了一个包含332个个体的变异数据库。基因组的组装和群体变异分析为牛的进化提供了重要见解,并增强了我们对育种选择的理解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80d9/11653892/3b0d06485cda/giae099fig1.jpg

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