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高海拔地区雪豹(Panthera pardus)染色体水平基因组组装揭示了其对环境的适应。

Chromosome-level Genome Assembly of the High-altitude Leopard (Panthera pardus) Sheds Light on Its Environmental Adaptation.

机构信息

Key Laboratory of Bioresources and Ecoenvironment (Ministry of Education), College of Life Sciences, Sichuan University, Chengdu, P.R. China.

College of Animal Science and Veterinary Medicine, Southwest Minzu University, Chengdu, P.R. China.

出版信息

Genome Biol Evol. 2022 Sep 6;14(9). doi: 10.1093/gbe/evac128.

Abstract

The leopard (Panthera pardus) has the largest natural distribution from low- to high-altitude areas of any wild felid species, but recent studies have revealed that leopards have disappeared from large areas, probably owing to poaching, a decline of prey species, and habitat degradation. Here, we reported the chromosome-scale genome assembly of the high-altitude leopard (HL) based on nanopore sequencing and high-throughput chromatin conformation capture (Hi-C) technology. Panthera genomes revealed similar repeat composition, and there was an appreciably conserved synteny between HL and the other two Panthera genomes. Divergence time analysis based on the whole genomes revealed that the HL and the low-altitude leopard differentiate from a common ancestor ∼2.2 Ma. Through comparative genomics analyses, we found molecular genetic signatures that may reflect high-altitude adaptation of the HL. Three HL-specific missense mutations were detected in two positively selected genes, that is, ITGA7 (Ala112Gly, Asp113Val, and Gln115Pro) and NOTCH2 (Ala2398Ser), which are likely to be associated with hypoxia adaptation. The chromosome-level genome of the HL provides valuable resources for the investigation of high-altitude adaptation and protection management of the vulnerable leopard.

摘要

豹(Panthera pardus)是所有野生猫科动物中分布范围最广的物种,从低海拔到高海拔地区都有其踪迹,但最近的研究表明,由于偷猎、猎物物种减少以及栖息地退化,豹已经从大片区域消失。在这里,我们报告了基于纳米孔测序和高通量染色质构象捕获(Hi-C)技术的高海拔豹(HL)的染色体级基因组组装。豹属基因组显示出相似的重复组成,HL 和其他两个豹属基因组之间存在明显的保守同线性。基于全基因组的分化时间分析表明,HL 和低海拔豹大约在 220 万年前从一个共同的祖先分化出来。通过比较基因组学分析,我们发现了可能反映 HL 高海拔适应的分子遗传特征。在两个正选择基因中检测到三个 HL 特异性错义突变,即 ITGA7(Ala112Gly、Asp113Val 和 Gln115Pro)和 NOTCH2(Ala2398Ser),这可能与缺氧适应有关。HL 的染色体水平基因组为研究高海拔适应和保护脆弱的豹提供了有价值的资源。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fd34/9452791/de85988be328/evac128f1.jpg

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