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利用短读长测序构建印度牛泛基因组草图。

Constructing a draft Indian cattle pangenome using short-read sequencing.

作者信息

Azam Sarwar, Sahu Abhisek, Pandey Naveen Kumar, Neupane Mahesh, Van Tassell Curtis P, Rosen Benjamin D, Gandham Ravi Kumar, Rath Subha Narayan, Majumdar Subeer S

机构信息

National Institute of Animal Biotechnology, Hyderabad, India.

Indian Institute of Technology Hyderabad, Sangareddy, India.

出版信息

Commun Biol. 2025 Apr 13;8(1):605. doi: 10.1038/s42003-025-07978-0.

DOI:10.1038/s42003-025-07978-0
PMID:40223124
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11994783/
Abstract

Indian desi cattle, known for their adaptability and phenotypic diversity, represent a valuable genetic resource. However, a single reference genome often fails to capture the full extent of their genetic variation. To address this, we construct a pangenome for desi cattle by identifying and characterizing non-reference novel sequences (NRNS). We sequence 68 genomes from seven breeds, generating 48.35 billion short reads. Using the PanGenome Analysis (PanGA) pipeline, we identify 13,065 NRNS (~41 Mbp), with substantial variation across the population. Most NRNS were unique to desi cattle, with minimal overlap (4.1%) with the Chinese indicine pangenome. Approximately 40% of NRNS exhibited ancestral origins within the Bos genus and were enriched in genic regions, suggesting functional roles. These sequences are linked to quantitative trait loci for traits such as milk production. The pangenome approach enhances read mapping accuracy, reduces spurious single nucleotide polymorphism calls, and uncovers novel genetic variants, offering a deeper understanding of desi cattle genomics.

摘要

印度本土牛以其适应性和表型多样性而闻名,是一种宝贵的遗传资源。然而,单一的参考基因组往往无法完全捕捉其遗传变异的全貌。为了解决这个问题,我们通过识别和表征非参考新序列(NRNS)构建了本土牛的泛基因组。我们对七个品种的68个基因组进行了测序,产生了483.5亿条短读段。使用泛基因组分析(PanGA)流程,我们识别出13065个NRNS(约41兆碱基对),群体间存在大量变异。大多数NRNS是本土牛特有的,与中国瘤牛泛基因组的重叠极少(4.1%)。约40%的NRNS在牛属内表现出祖先起源,并且在基因区域富集,表明具有功能作用。这些序列与产奶等性状的数量性状位点相关。泛基因组方法提高了读段映射准确性,减少了虚假单核苷酸多态性的调用,并揭示了新的遗传变异,有助于更深入地了解本土牛基因组学。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/146e/11994783/3fa367d88d7b/42003_2025_7978_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/146e/11994783/b4bd25c6de0c/42003_2025_7978_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/146e/11994783/2c55a692d1a2/42003_2025_7978_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/146e/11994783/e86b2e782874/42003_2025_7978_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/146e/11994783/86ce5c98e224/42003_2025_7978_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/146e/11994783/3fa367d88d7b/42003_2025_7978_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/146e/11994783/b4bd25c6de0c/42003_2025_7978_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/146e/11994783/2c55a692d1a2/42003_2025_7978_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/146e/11994783/e86b2e782874/42003_2025_7978_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/146e/11994783/86ce5c98e224/42003_2025_7978_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/146e/11994783/3fa367d88d7b/42003_2025_7978_Fig5_HTML.jpg

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本文引用的文献

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Anim Biotechnol. 2024 Nov;35(1):2309954. doi: 10.1080/10495398.2024.2309954. Epub 2024 Jan 31.
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Assembly of novel sequences for Chinese domestic pigs reveals new genes and regulatory variants providing new insights into their diversity.组装中国本土猪的新序列揭示了新基因和调控变异,为其多样性提供了新的见解。
Genomics. 2024 Mar;116(2):110782. doi: 10.1016/j.ygeno.2024.110782. Epub 2024 Jan 3.
3
Structural variation and introgression from wild populations in East Asian cattle genomes confer adaptation to local environment.
东亚牛种基因组中的结构变异和来自野生种群的基因渗入赋予了它们对当地环境的适应性。
Genome Biol. 2023 Sep 18;24(1):211. doi: 10.1186/s13059-023-03052-2.
4
A Chinese indicine pangenome reveals a wealth of novel structural variants introgressed from other species.一个中国综合基因组揭示了大量从其他物种中引入的新型结构变异。
Genome Res. 2023 Aug;33(8):1284-1298. doi: 10.1101/gr.277481.122. Epub 2023 Sep 15.
5
A sheep pangenome reveals the spectrum of structural variations and their effects on tail phenotypes.绵羊泛基因组揭示了结构变异的范围及其对尾巴表型的影响。
Genome Res. 2023 Mar;33(3):463-477. doi: 10.1101/gr.277372.122. Epub 2023 Mar 27.
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Graph construction method impacts variation representation and analyses in a bovine super-pangenome.图构建方法影响牛超级泛基因组中的变异表示和分析。
Genome Biol. 2023 May 22;24(1):124. doi: 10.1186/s13059-023-02969-y.
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Non-Synonymous Variants in Fat QTL Genes among High- and Low-Milk-Yielding Indigenous Breeds.高产和低产本地品种中脂肪QTL基因的非同义变异
Animals (Basel). 2023 Feb 28;13(5):884. doi: 10.3390/ani13050884.
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Pangenome obtained by long-read sequencing of 11 genomes reveal hidden functional structural variants in pigs.通过对11个基因组进行长读长测序获得的泛基因组揭示了猪中隐藏的功能性结构变异。
iScience. 2023 Feb 2;26(3):106119. doi: 10.1016/j.isci.2023.106119. eCollection 2023 Mar 17.
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Long read genome assemblies complemented by single cell RNA-sequencing reveal genetic and cellular mechanisms underlying the adaptive evolution of yak.长读基因组组装辅以单细胞 RNA 测序揭示了牦牛适应进化的遗传和细胞机制。
Nat Commun. 2022 Sep 6;13(1):4887. doi: 10.1038/s41467-022-32164-9.
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