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阿鲁纳恰尔牦牛的从头基因组组装与注释

De Novo Genome Assembly and Annotation of the Arunachali Yak.

作者信息

Pukhrambam Martina, Tribhuvan Kishor U, Paul Vijay, Pandey Avinash, Dutta Atrayee, Bhadana Vijai Pal, Dabas Suresh, Ramakrushna G I, Raghavendra K P, Verma Pooja, Prasad Y G, Mohanty A K, Rakshit Sujay, Sarkar Mihir

机构信息

ICAR - National Research Centre on Yak, Dirang, 790101, Arunachal Pradesh, India.

ICAR- Indian Institute of Agricultural Biotechnology, Ranchi, 834003, Jharkhand, India.

出版信息

Sci Data. 2025 Jun 18;12(1):1027. doi: 10.1038/s41597-025-05362-5.

DOI:10.1038/s41597-025-05362-5
PMID:40533522
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12177079/
Abstract

The Arunachali yak (Bos grunniens), a high-altitude ruminant endemic to India, is genetically and economically significant for pastoral communities. However, challenges such as population decline, inbreeding, and genetic dilution through crossbreeding threaten its conservation. We generated a high-quality reference genome using PacBio HiFi long-read sequencing, Bionano optical mapping, and Hi-C sequencing to elucidate its genomic features and adaptive mechanisms. The 2.85 Gb genome, assembled with hifiasm, achieved a contig N50 of 70.4 Mb and a scaffold N50 of 102.99 Mb, with high completeness validated by BUSCO analysis. Annotation identified 25,855 protein-coding genes, with 81.5% functionally characterized. Repeat analysis revealed 44.68% transposable elements, with LINEs (28.26%) being the most abundant. This comprehensive genomic resource can help provide crucial insights into high-altitude adaptation, disease resistance, and productivity traits, and could support genomic-assisted breeding, conservation, and sustainable management of the Arunachali yak.

摘要

阿鲁纳恰尔牦牛(Bos grunniens)是印度特有的一种高海拔反刍动物,对牧民社区具有重要的遗传和经济意义。然而,诸如种群数量下降、近亲繁殖以及杂交导致的基因稀释等挑战,威胁着它的保护。我们利用PacBio HiFi长读长测序、Bionano光学图谱和Hi-C测序技术生成了高质量的参考基因组,以阐明其基因组特征和适应机制。该基因组大小为2.85 Gb,使用hifiasm进行组装,重叠群N50达到70.4 Mb,支架N50达到102.99 Mb,通过BUSCO分析验证具有高完整性。注释鉴定出25,855个蛋白质编码基因,其中81.5%具有功能特征。重复序列分析显示,转座元件占44.68%,其中长散在核元件(LINEs,占28.26%)最为丰富。这一全面的基因组资源有助于深入了解高海拔适应、抗病性和生产性状,并可为阿鲁纳恰尔牦牛的基因组辅助育种、保护和可持续管理提供支持。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/063f/12177079/3da9207da448/41597_2025_5362_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/063f/12177079/3679862f927d/41597_2025_5362_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/063f/12177079/7cf568fa48a6/41597_2025_5362_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/063f/12177079/e8e4ae03b79c/41597_2025_5362_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/063f/12177079/3da9207da448/41597_2025_5362_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/063f/12177079/3679862f927d/41597_2025_5362_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/063f/12177079/7cf568fa48a6/41597_2025_5362_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/063f/12177079/e8e4ae03b79c/41597_2025_5362_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/063f/12177079/3da9207da448/41597_2025_5362_Fig4_HTML.jpg

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