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对六个不同品种的马的基因组序列和结构多态性进行全基因组检测。

Whole genome detection of sequence and structural polymorphism in six diverse horses.

机构信息

Department of Animal and Veterinary Sciences, College of Agriculture and Marine Sciences, Sultan Qaboos University, Al Khod, Muscat, Oman.

Department of Animal Science, Cornell University, Ithaca, NY, United States of America.

出版信息

PLoS One. 2020 Apr 9;15(4):e0230899. doi: 10.1371/journal.pone.0230899. eCollection 2020.

Abstract

The domesticated horse has played a unique role in human history, serving not just as a source of animal protein, but also as a catalyst for long-distance migration and military conquest. As a result, the horse developed unique physiological adaptations to meet the demands of both their climatic environment and their relationship with man. Completed in 2009, the first domesticated horse reference genome assembly (EquCab 2.0) produced most of the publicly available genetic variations annotations in this species. Yet, there are around 400 geographically and physiologically diverse breeds of horse. To enrich the current collection of genetic variants in the horse, we sequenced whole genomes from six horses of six different breeds: an American Miniature, a Percheron, an Arabian, a Mangalarga Marchador, a Native Mongolian Chakouyi, and a Tennessee Walking Horse, and mapped them to EquCab3.0 genome. Aside from extreme contrasts in body size, these breeds originate from diverse global locations and each possess unique adaptive physiology. A total of 1.3 billion reads were generated for the six horses with coverage between 15x to 24x per horse. After applying rigorous filtration, we identified and functionally annotated 17,514,723 Single Nucleotide Polymorphisms (SNPs), and 1,923,693 Insertions/Deletions (INDELs), as well as an average of 1,540 Copy Number Variations (CNVs) and 3,321 Structural Variations (SVs) per horse. Our results revealed putative functional variants including genes associated with size variation like LCORL gene (found in all horses), ZFAT in the Arabian, American Miniature and Percheron horses and ANKRD1 in the Native Mongolian Chakouyi horse. We detected a copy number variation in the Latherin gene that may be the result of evolutionary selection impacting thermoregulation by sweating, an important component of athleticism and heat tolerance. The newly discovered variants were formatted into user-friendly browser tracks and will provide a foundational database for future studies of the genetic underpinnings of diverse phenotypes within the horse.

摘要

家马在人类历史上扮演了独特的角色,不仅是动物蛋白质的来源,还是长途迁移和军事征服的催化剂。因此,马为了适应气候环境和与人类的关系,发展出了独特的生理适应性。2009 年完成的第一个家马参考基因组组装(EquCab 2.0)产生了该物种大多数公开可用的遗传变异注释。然而,目前有大约 400 个地理和生理上多样化的马品种。为了丰富马的遗传变异数据库,我们对六个不同品种的马进行了全基因组测序:美国迷你马、佩尔什马、阿拉伯马、马兰加马、蒙古查科伊马和田纳西走马,并将它们映射到 EquCab3.0 基因组上。除了体型极端的差异外,这些品种来自不同的全球地区,每个品种都具有独特的适应生理特性。这六匹马共产生了 13 亿个读取,每个马的覆盖率在 15 到 24 倍之间。经过严格的过滤,我们鉴定并功能注释了 17514723 个单核苷酸多态性(SNP)和 1923693 个插入/缺失(INDEL),以及每个马平均 1540 个拷贝数变异(CNV)和 3321 个结构变异(SV)。我们的结果揭示了一些可能具有功能的变异,包括与大小变化相关的基因,如 LCORL 基因(在所有马中都有发现)、阿拉伯马、美国迷你马和佩尔什马中的 ZFAT 基因以及蒙古查科伊马中的 ANKRD1 基因。我们检测到 Latherin 基因的拷贝数变异,这可能是通过出汗来影响体温调节的进化选择的结果,而这是运动能力和耐热性的重要组成部分。新发现的变异被格式化到用户友好的浏览器轨道中,将为未来研究马的不同表型的遗传基础提供一个基础数据库。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa95/7144971/efa0f862c319/pone.0230899.g001.jpg

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