Integration of multi-omics resources reveals genetic features associated with environmental adaptation in the Wuzhishan pig genome

IF 2.9 2区 生物学 Q2 BIOLOGY
Ziqi Zhong , Feng Wang , Xinfeng Xie , Ziyi Wang , Deyou Pan , Zhen Wang , Qian Xiao
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引用次数: 0

Abstract

In light of the challenges posed by global climate change, the environmental adaptability of organisms is becoming increasingly important. The Wuzhishan (WZS) pig, tolerant to high heat and humidity, is an ideal model for genomic study. By characterizing its genome and assessing its genetic diversity and runs of homozygosity (ROH), we can gain insights into its current conservation status and genomic architecture. To this end, we analyzed whole-genome resequencing data from WZS pigs, identifying a comprehensive set of genetic variations: 12,844,858 single nucleotide polymorphisms (SNPs), 4,723,303 insertions and deletions (InDels), 39,311 copy number variations (CNVs), and 70,392 structural variations (SVs). ROH analysis revealed mostly short segments, indicating limited recent admixture and relatively low inbreeding, reflecting high genetic diversity. Linkage disequilibrium decay and effective population size analyses supported these findings, consistent with previous studies. Population genetic analyses of pig populations from Asia, Europe, and the Americas were conducted using SNPs, InDels, and SVs. The results obtained from different variant types were largely concordant, suggesting that the constructed genomic variation database is robust. Notably, the WZS pig displayed relatively unique genetic characteristics compared to other breeds. By intersecting the top 5 % of genes under selection signatures, we identified key pathways and candidate genes associated with important traits in WZS pigs, including reproduction (ABCC9, APC2, CABS1, CSNK1G1), immunity (ARPIN, CMAS, ITPR1, SLC25A13), meat quality (GANC, OBSCN, SLC5A4), environmental adaptability (MAGI1, PHF3), and heat tolerance (GABPB1, LRRC25). Further integrative analyses based on transcriptomic, single-cell transcriptomic, and epigenomic data were conducted to explore the regulatory mechanisms of key genes such as LRRC25 and ITPR1. We identified relevant expression quantitative trait loci (eQTLs), associated tissues, and distal regulatory elements that potentially influence gene expression. These findings suggest that epigenetic modifications may contribute to the enhanced heat tolerance and immune function observed in WZS pigs. In conclusion, WZS pigs represent a valuable genetic resource. Further research on this breed will deepen our understanding of mechanisms underlying environmental adaptability, and provide important insights into evolutionary biology and breeding strategies for improved resilience in livestock.
整合多组学资源揭示五指山猪基因组与环境适应相关的遗传特征
鉴于全球气候变化带来的挑战,生物的环境适应性变得越来越重要。五指山(WZS)猪耐高温高湿,是基因组学研究的理想模型。通过对其基因组特征、遗传多样性和纯合子运行数(ROH)的评估,我们可以了解其目前的保护状况和基因组结构。为此,我们分析了来自WZS猪的全基因组重测序数据,确定了一组全面的遗传变异:12,844,858个单核苷酸多态性(snp), 4,723,303个插入和缺失(InDels), 39,311个拷贝数变异(cnv)和70,392个结构变异(SVs)。ROH分析显示大部分片段较短,表明近期混合有限,近交相对较低,反映了较高的遗传多样性。连锁不平衡衰减和有效种群大小分析支持这些发现,与先前的研究一致。使用snp、InDels和sv对来自亚洲、欧洲和美洲的猪群进行群体遗传分析。不同变异类型得到的结果基本一致,表明构建的基因组变异数据库是鲁棒性的。值得注意的是,与其他品种相比,WZS猪表现出相对独特的遗传特征。通过交叉选择特征下前5%的基因,我们确定了与WZS猪重要性状相关的关键途径和候选基因,包括繁殖(ABCC9、APC2、CABS1、CSNK1G1)、免疫(ARPIN、CMAS、ITPR1、SLC25A13)、肉质(GANC、obcn、SLC5A4)、环境适应性(MAGI1、PHF3)和耐热性(GABPB1、LRRC25)。进一步基于转录组学、单细胞转录组学和表观基因组学数据进行综合分析,探索LRRC25和ITPR1等关键基因的调控机制。我们确定了相关的表达数量性状位点(eqtl)、相关组织和可能影响基因表达的远端调控元件。这些发现表明,表观遗传修饰可能有助于WZS猪的耐热性和免疫功能的增强。总之,WZS猪是一种宝贵的遗传资源。对该品种的进一步研究将加深我们对环境适应机制的理解,并为提高家畜的适应能力提供进化生物学和育种策略的重要见解。
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来源期刊
Journal of thermal biology
Journal of thermal biology 生物-动物学
CiteScore
5.30
自引率
7.40%
发文量
196
审稿时长
14.5 weeks
期刊介绍: The Journal of Thermal Biology publishes articles that advance our knowledge on the ways and mechanisms through which temperature affects man and animals. This includes studies of their responses to these effects and on the ecological consequences. Directly relevant to this theme are: • The mechanisms of thermal limitation, heat and cold injury, and the resistance of organisms to extremes of temperature • The mechanisms involved in acclimation, acclimatization and evolutionary adaptation to temperature • Mechanisms underlying the patterns of hibernation, torpor, dormancy, aestivation and diapause • Effects of temperature on reproduction and development, growth, ageing and life-span • Studies on modelling heat transfer between organisms and their environment • The contributions of temperature to effects of climate change on animal species and man • Studies of conservation biology and physiology related to temperature • Behavioural and physiological regulation of body temperature including its pathophysiology and fever • Medical applications of hypo- and hyperthermia Article types: • Original articles • Review articles
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