Selection signatures

选择签名
  • 文章类型: Journal Article
    这项调查对枣北肉牛的基因组多样性和选择特征进行了全面分析,一种以适应炎热潮湿气候和优质肉质而闻名的土著品种。对23头枣北牛进行了全基因组重测序,与46只西门塔尔牛相比,突出了遗传差异。种群结构分析证实了枣北牛的遗传独特性。使用DASDCv1.01、XPEHH、和θπ比,我们通过DASDC鉴定了230、232和221个基因,包括硬扫,柔软的扫描,和联动扫描,分别。巧合的是,当使用XPEHH和θπ比率方法时,鉴定了109个基因。一起,这些分析揭示了八个阳性选择基因(ARHGAP15,ZNF618,USH2A,PDZRN4、SPATA6、ROR2、KCNIP3和VWA3B),这些特征与热应激适应等关键特征有关,生育力,和肉的质量。此外,功能富集分析显示与自噬相关的途径,免疫反应,能量代谢,和肌肉发育。从这项研究中获得的全面的基因组见解为旨在增强枣北牛有益性状的育种计划提供了有价值的知识。
    This investigation provides a comprehensive analysis of genomic diversity and selection signatures in Zaobei beef cattle, an indigenous breed known for its adaptation to hot and humid climates and superior meat quality. Whole-genome resequencing was conducted on 23 Zaobei cattle, compared with 46 Simmental cattle to highlight genetic distinctions. Population structure analysis confirmed the genetic uniqueness of Zaobei cattle. Using methods such as DASDC v1.01, XPEHH, and θπ ratio, we identified 230, 232, and 221 genes through DASDC, including hard sweeps, soft sweeps, and linkage sweeps, respectively. Coincidentally, 109 genes were identified when using XPEHH and θπ ratio methods. Together, these analyses revealed eight positive selection genes (ARHGAP15, ZNF618, USH2A, PDZRN4, SPATA6, ROR2, KCNIP3, and VWA3B), which are linked to critical traits such as heat stress adaptation, fertility, and meat quality. Moreover, functional enrichment analyses showed pathways related to autophagy, immune response, energy metabolism, and muscle development. The comprehensive genomic insights gained from this study provide valuable knowledge for breeding programs aimed at enhancing the beneficial traits in Zaobei cattle.
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  • 文章类型: Journal Article
    刺五加和沙巴是中国沿海重要的海洋经济物种,具有相似的外部形态特征和生活习惯,分布广、适应性强。为了研究这两个物种适应性进化的分子机制,我们对这两个物种的10个个体进行了全基因组重测序,福建,中国,采用高通量测序技术。我们获得了SNP,InDel,CNV,和SV变异信息,并注释了这些变异,构建两个物种的基因组变异数据库。通过将重新测序数据与参考基因组进行比较,我们在A.latus种群中鉴定了9,829,511个SNP基因座,在R.sarba种群中鉴定了34,051,056个SNP基因座。使用全基因组SNP数据,我们使用Fst和ROD方法来确定所选择的候选基因组区域.使用GO和KEGG数据库的功能注释和富集分析揭示了与免疫反应相关的R.sarba的潜在适应性进化,喂养,成长和发展,和运动,而A.latus显示出与免疫反应相关的潜在适应性进化,神经系统,成长和发展,和新陈代谢。
    Acanthopagrus latus and Rhabdosargus sarba are economically important marine species along the coast of China, with similar external morphological characteristics and living habits, with wide distribution and strong adaptability. To investigate the molecular mechanisms underlying the adaptive evolution of these two species, we conducted whole-genome resequencing of 10 individuals of both species from the coastal waters of Wuyu Island, Fujian, China, using high-throughput sequencing technology. We obtained SNP, InDel, CNV, and SV variation information and annotated these variations, constructing a genomic variation database for both species. By comparing the resequencing data with reference genomes, we identified 9,829,511 SNP loci in the population of A. latus and 34,051,056 SNP loci in the population of R. sarba. Using whole-genome SNP data, we employed Fst and ROD methods to identify candidate genomic regions under selection. Functional annotation and enrichment analysis using GO and KEGG databases revealed potential adaptive evolution in R. sarba associated with immune response, feeding, growth and development, and locomotion, while A. latus showed potential adaptive evolution associated with immune response, nervous system, growth and development, and metabolism.
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  • 文章类型: Journal Article
    阿留申病(AD)给水貂产业带来了巨大的经济损失。选择具有AD弹性的水貂来控制AD。这样的选择可能改变了响应于选择压力的遗传变异模式。这项研究旨在确定免疫应答(IRE)和对AD的弹性的选择特征。使用了来自AD阳性设施的总共1,411只水貂。对于IRE,根据酶联免疫吸附测定(ELISA)和反免疫电泳(CIEP)的组合结果对264只动物进行分类。对于韧性,使用了两种分组方法:1)一般弹性性能(GRP,n=30)基于进料转化率进行评估,克莱伯比率,和毛皮质量;和2)雌性繁殖性能(FRP,n=36)是根据出生后24小时存活的试剂盒数量来测量的。检测方法是成对固定指数,核苷酸多样性,和跨群体扩展单倍型纯合性。总共有619、569和526个SNP被确定为IRE的候选者,GRP,FRP,分别。所注释的基因参与了免疫系统过程,增长,繁殖,和色素沉着。两个嗅觉相关的基因本体论(GO)术语对所有性状都是显著的(q<0.05),提示AD对感染水貂嗅觉的影响。IRE的不同颜色类型之间检测到的基因和GO项的差异表明颜色类型之间对AD的免疫应答的差异。丝裂原活化蛋白激酶(MAPK)信号通路对FRP有显著意义(q<0.05),提示AD可能会破坏MAPK信号并影响FRP。这项研究的发现有助于我们了解水貂AD弹性的基因组结构和生物学机制。
    Aleutian disease (AD) brings tremendous financial losses to the mink industry. Selecting AD-resilient mink has been conducted to control AD. Such selections could have altered the patterns of genetic variation responding to selection pressures. This study aimed to identify selection signatures for immune response (IRE) and resilience to AD. A total of 1,411 mink from an AD-positive facility were used. For IRE, 264 animals were categorized according to the combined results of enzyme-linked immunosorbent assay (ELISA) and counterimmunoelectrophoresis (CIEP). For resilience, two grouping methods were used: 1) general resilience performance (GRP, n = 30) was evaluated based on the feed conversion ratio, Kleiber ratio, and pelt quality; and 2) female reproductive performance (FRP, n = 36) was measured based on the number of kits alive 24 h after birth. Detection methods were the pairwise fixation index, nucleotide diversity, and cross-population extended haplotype homozygosity. A total of 619, 569, and 526 SNPs were identified as candidates for IRE, GRP, and FRP, respectively. The annotated genes were involved in immune system process, growth, reproduction, and pigmentation. Two olfactory-related Gene Ontology (GO) terms were significant (q < 0.05) for all traits, suggesting the impact of AD on the sense of smell of infected mink. Differences in detected genes and GO terms among different color types for IRE indicated variations in immune response to AD among color types. The mitogen-activated protein kinase (MAPK) signaling pathway was significant (q < 0.05) for FRP, suggesting that AD may disrupt MAPK signaling and affect FRP. The findings of this research contribute to our knowledge of the genomic architecture and biological mechanisms underlying AD resilience in mink.
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  • 文章类型: Journal Article
    过去和正在进行的选择塑造了牲畜品种的基因组。识别这种选择特征可以揭示受影响表型的遗传基础,包括经济上重要的特征和环境适应,进一步改善品种遗传学,以应对气候和经济挑战。图拉诺-蒙古牛是一组牛磺酸品种,以适应极端环境条件和出色的生产性能而闻名。BuryatTurano-蒙古牛是适应寒冷气候和劣质饲料的少数品种之一。和牛,另一方面,以高生产率和独特的优质大理石花纹肉而闻名。我们用了hapFLK,多个信号的去相关复合(DCMS),PBS,和FST方法在他们的基因组中搜索选择的签名。扫描显示了与冷适应相关的基因中的信号(例如,布里亚特品种的STAT3,DOCK5,GSTM3和CXCL8)和食物消化率(SI),和生长和发育特征(例如,RBFOX2和SHOX2)和大理石花纹(例如,DGAT1、IQGAP2、RSRC1和DIP2B)。几个与生殖相关的推定选择基因,豁免权,在两个品种基因组中都发现了对病原体的抗性。我们的工作结果可用于创建新的生产性适应品种或改进现有品种。
    Past and ongoing selection shapes the genomes of livestock breeds. Identifying such signatures of selection allows for uncovering the genetic bases of affected phenotypes, including economically important traits and environmental adaptations, for the further improvement of breed genetics to respond to climate and economic challenges. Turano-Mongolian cattle are a group of taurine breeds known for their adaptation to extreme environmental conditions and outstanding production performance. Buryat Turano-Mongolian cattle are among the few breeds adapted to cold climates and poor forage. Wagyu, on the other hand, is famous for high productivity and unique top-quality marbled meat. We used hapFLK, the de-correlated composite of multiple signals (DCMS), PBS, and FST methods to search for signatures of selection in their genomes. The scans revealed signals in genes related to cold adaptation (e.g., STAT3, DOCK5, GSTM3, and CXCL8) and food digestibility (SI) in the Buryat breed, and growth and development traits (e.g., RBFOX2 and SHOX2) and marbling (e.g., DGAT1, IQGAP2, RSRC1, and DIP2B) in Wagyu. Several putatively selected genes associated with reproduction, immunity, and resistance to pathogens were found in both breed genomes. The results of our work could be used for creating new productive adapted breeds or improving the extant breeds.
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  • 文章类型: Journal Article
    全基因组选择特征的鉴定可以揭示通过自然或人工选择产生新品种的潜在遗传机制。在这项研究中,我们筛选了多产萨福克绵羊的全基因组选择特征,一种新的多胎羊羊,鉴定该新品系萨福克绵羊繁殖性状的候选基因,并揭示其种质特性和种群遗传进化。以20倍的有效测序深度进行全基因组重测序,以进行基因组多样性和种群结构分析。此外,在多产的萨福克绵羊中研究了选择特征,萨福克羊,和湖羊采用固定指数(F一ST)和杂合度H)分析。对于多产的萨福克绵羊,总共获得了5,236.338Gb的高质量基因组数据和28,767,952个SNP。此外,鉴定了跨越候选基因的99个选择信号。23个基因与KEGG通路和与生殖相关的基因本体论术语显著相关,增长,豁免权,和新陈代谢。通过选择性信号分析,基因如ARHGEF4,CATIP,和CCDC115被发现与多产萨福克绵羊的繁殖性状显着相关,并且与mTOR信号通路高度相关,黑色素生成途径,和河马信号通路,在其他人中。这些结果有助于了解多产萨福克绵羊的人工选择进化,并提供了与繁殖相关的候选基因,这些基因可能有益于建立新的绵羊品种。
    The identification of genome-wide selection signatures can reveal the potential genetic mechanisms involved in the generation of new breeds through natural or artificial selection. In this study, we screened the genome-wide selection signatures of prolific Suffolk sheep, a new strain of multiparous mutton sheep, to identify candidate genes for reproduction traits and unravel the germplasm characteristics and population genetic evolution of this new strain of Suffolk sheep. Whole-genome resequencing was performed at an effective sequencing depth of 20× for genomic diversity and population structure analysis. Additionally, selection signatures were investigated in prolific Suffolk sheep, Suffolk sheep, and Hu sheep using fixation index (F ST) and heterozygosity H) analysis. A total of 5,236.338 Gb of high-quality genomic data and 28,767,952 SNPs were obtained for prolific Suffolk sheep. Moreover, 99 selection signals spanning candidate genes were identified. Twenty-three genes were significantly associated with KEGG pathway and Gene Ontology terms related to reproduction, growth, immunity, and metabolism. Through selective signal analysis, genes such as ARHGEF4, CATIP, and CCDC115 were found to be significantly correlated with reproductive traits in prolific Suffolk sheep and were highly associated with the mTOR signaling pathway, the melanogenic pathway, and the Hippo signaling pathways, among others. These results contribute to the understanding of the evolution of artificial selection in prolific Suffolk sheep and provide candidate reproduction-related genes that may be beneficial for the establishment of new sheep breeds.
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  • 文章类型: Journal Article
    背景:中国土牛具有丰富的遗传多样性和悠久的人工选择历史,在适应性上给予当地品种优势,牧草的耐受性和抗性。选择性扫描的检测和选定品种和祖先群体的比较基因组分析为理解品种之间的差异以及候选基因的鉴定和利用提供了基础。我们调查了遗传多样性,人口结构,以及使用全基因组测序数据对秦川牛新品种进行选择的签名(QNC,n=21),祖传秦川牛(QCC,n=20),和枣生牛(ZSC,n=19)。
    结果:种群结构分析表明,QNC和ZSC的祖先成分相似。此外,QNC和ZSC组的欧洲牛磺酸血统比例高于QCC,这可以解释QNC的更大的身体尺寸,在长期驯化和选择下接近欧洲牛的水平。邻居连接树显示QCC个体密切相关,而QNC形成了一个不同的群体。要在QNC基因组中搜索选择的签名,我们评估了核苷酸多样性(θπ),固定指数(FST)和Tajima'sD.重叠选择性扫描富集了一条KEGG通路,apelin信号通路,并包括五个候选基因(MEF2A,SMAD2、CAMK4、RPS6和PIK3CG)。我们对QNC中的基因组变异进行了全面回顾,QCC,和ZSC使用全基因组测序数据。品管圈具有丰富的新型遗传多样性,虽然QNC和ZSC牛的多样性由于强烈的人工选择而减少,与原始牛不同。
    结论:我们鉴定了与生产性状相关的候选基因。这些结果支持了选育的成功,可以指导秦川牛的进一步育种和资源保护。
    BACKGROUND: Indigenous Chinese cattle have abundant genetic diversity and a long history of artificial selection, giving local breeds advantages in adaptability, forage tolerance and resistance. The detection of selective sweeps and comparative genome analysis of selected breeds and ancestral populations provide a basis for understanding differences among breeds and for the identification and utilization of candidate genes. We investigated genetic diversity, population structure, and signatures of selection using genome-wide sequencing data for a new breed of Qinchuan cattle (QNC, n = 21), ancestral Qinchuan cattle (QCC, n = 20), and Zaosheng cattle (ZSC, n = 19).
    RESULTS: A population structure analysis showed that the ancestry components of QNC and ZSC were similar. In addition, the QNC and ZSC groups showed higher proportions of European taurine ancestry than that of QCC, and this may explain the larger body size of QNC, approaching that of European cattle under long-term domestication and selection. A neighbor-joining tree revealed that QCC individuals were closely related, whereas QNC formed a distinct group. To search for signatures of selection in the QNC genome, we evaluated nucleotide diversity (θπ), the fixation index (FST) and Tajima\'s D. Overlapping selective sweeps were enriched for one KEGG pathway, the apelin signaling pathway, and included five candidate genes (MEF2A, SMAD2, CAMK4, RPS6, and PIK3CG). We performed a comprehensive review of genomic variants in QNC, QCC, and ZSC using whole-genome sequencing data. QCC was rich in novel genetic diversity, while diversity in QNC and ZSC cattle was reduced due to strong artificial selection, with divergence from the original cattle.
    CONCLUSIONS: We identified candidate genes associated with production traits. These results support the success of selective breeding and can guide further breeding and resource conservation of Qinchuan cattle.
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  • 文章类型: Journal Article
    评估当地品种的遗传结构并了解其遗传数据对于有效管理和保存至关重要。然而,当地品种之间的遗传差异需要进一步解释。加强对其种群结构和遗传多样性的认识,利用基因组序列和限制性位点相关DNA测序技术对巢湖和吉安红鸭进行了全基因组比较研究。我们的分析揭示了两个品种之间明显的遗传区别,导致分裂的群体。巢湖鸭的系统发育树显示了两个分支,可能表明人工选择的影响最小。此外,我们的ROH(纯合性运行)分析表明,巢湖鸭的平均近交系数低于吉安红鸭。我们在这些本地鸭品种中确定了几个具有高度遗传相似性的基因组区域。通过进行选择性扫描分析,我们确定了574个与肌肉生长相关的候选基因(BMP2,ITGA8,MYLK,和PTCH1),脂肪沉积(ELOVL1和HACD2),和色素沉着(ASIP和LOC101797494)。这些结果为进一步加强和保护中国本土鸭品种提供了有价值的见解。
    Assessing the genetic structure of local varieties and understanding their genetic data are crucial for effective management and preservation. However, the genetic differences among local breeds require further explanation. To enhance our understanding of their population structure and genetic diversity, we conducted a genome-wide comparative study of Chaohu and Ji\'an Red ducks using genome sequence and restriction site-associated DNA sequencing technology. Our analysis revealed a distinct genetic distinction between the two breeds, leading to divided groups. The phylogenetic tree for Chaohu duck displayed two branches, potentially indicating minimal impact from artificial selection. Additionally, our ROH (runs of homozygosity) analysis revealed that Chaohu ducks had a lower average inbreeding coefficient than Ji\'an Red ducks. We identified several genomic regions with high genetic similarity in these indigenous duck breeds. By conducting a selective sweep analysis, we identified 574 candidate genes associated with muscle growth (BMP2, ITGA8, MYLK, and PTCH1), fat deposits (ELOVL1 and HACD2), and pigmentation (ASIP and LOC101797494). These results offer valuable insights for the further enhancement and conservation of Chinese indigenous duck breeds.
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  • 文章类型: Journal Article
    拷贝数变异(CNV)是用于阐明复杂经济性状的重要结构变异。在这项研究中,我们对25头Wannan斑点猪(WSP)进行了测序,以检测它们的CNV,并与10头亚洲野猪进行了比较,以确定它们的选择特征。在WSP中总共检测到14,161CNV,占猪基因组的0.72%。固定指数(Fst)用于识别选择签名,并选择Fst值的前1%的195个CNV。在所选择的CNV区域中鉴定出80个基因。功能GO和KEGG分析显示,这些选择的CNV中的基因与关键性状如繁殖(GAL3ST1和SETD2)相关,脂肪酸组成(PRKG1、ACACA、ACSL3,UGT8),免疫系统(LYZ),耳朵大小(WIF1),和饲料效率(VIPR2)。这项研究的结果为WSP特征的遗传CNV提供了新的见解,并为WSP种群的保护和利用提供了必要的信息。
    Copy number variation (CNV) is an important structural variation used to elucidate complex economic traits. In this study, we sequenced 25 Wannan spotted pigs (WSPs) to detect their CNVs and identify their selection signatures compared with those of 10 Asian wild boars. A total of 14,161 CNVs were detected in the WSPs, accounting for 0.72% of the porcine genome. The fixation index (Fst) was used to identify the selection signatures, and 195 CNVs with the top 1% of the Fst value were selected. Eighty genes were identified in the selected CNV regions. Functional GO and KEGG analyses revealed that the genes within these selected CNVs are associated with key traits such as reproduction (GAL3ST1 and SETD2), fatty acid composition (PRKG1, ACACA, ACSL3, UGT8), immune system (LYZ), ear size (WIF1), and feed efficiency (VIPR2). The findings of this study contribute novel insights into the genetic CNVs underlying WSP characteristics and provide essential information for the protection and utilization of WSP populations.
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  • 文章类型: Journal Article
    湖羊(HS),一种带有FecB突变基因的绵羊,以其“全年发情期和多胎”而闻名,是研究牲畜高繁殖力机制的理想模型。通过分析和比较湖羊和其他绵羊品种的基因组选择特征,我们确定了一系列可能在湖羊高繁殖力机制中起作用的候选基因。在这项研究中,我们对6个绵羊品种进行了全基因组重测序,筛选出与高繁殖性状显著相关的关键突变。值得注意的是,在HS和其他5个品种中,通过固定指数(FST)和交叉群体复合似然比(XP-CLR)方法选择CC2D1B基因.值得注意的是,HS中的CC2D1B基因与其他绵羊品种不同,并鉴定出7个错义突变.此外,连锁不平衡(LD)分析显示该特定基因区域存在强烈的连锁不平衡。随后,通过对湖羊的FecB基因型进行不同的分组,全基因组选择性信号分析筛选了几个与繁殖相关的基因,例如BMPR1B和PPM1K。此外,FST分析确定了与生殖性状相关的功能基因,包括RHEB,HSPA2,PPP1CC,HVCN1和CCDC63。此外,在CCDC63基因中发现了一个错义突变,HS的高繁殖(HR)组和低繁殖(LR)组的单倍型不同。总之,我们在全基因组水平上发现了六个不同种绵羊的遗传分化。此外,我们确定了一组与湖羊繁殖性能相关的基因,并观察了这些基因在不同品种中的差异。这些发现为理解绵羊高产量性状背后的遗传机制奠定了理论基础。
    Hu sheep (HS), a breed of sheep carrying the FecB mutation gene, is known for its \"year-round estrus and multiple births\" and is an ideal model for studying the high fecundity mechanisms of livestock. Through analyzing and comparing the genomic selection features of Hu sheep and other sheep breeds, we identified a series of candidate genes that may play a role in Hu sheep\'s high fecundity mechanisms. In this study, we conducted whole-genome resequencing on six breeds and screened key mutations significantly correlated with high reproductive traits in sheep. Notably, the CC2D1B gene was selected by the fixation index (FST) and the cross-population composite likelihood ratio (XP-CLR) methods in HS and other five breeds. It was worth noting that the CC2D1B gene in HS was different from that in other sheep breeds, and seven missense mutations have been identified. Furthermore, the linkage disequilibrium (LD) analysis revealed a strong linkage disequilibrium in this specific gene region. Subsequently, by performing different grouping based on FecB genotypes in Hu sheep, genome-wide selective signal analysis screened several genes related to reproduction, such as BMPR1B and PPM1K. Besides, FST analysis identified functional genes related to reproductive traits, including RHEB, HSPA2, PPP1CC, HVCN1, and CCDC63. Additionally, a missense mutation was found in the CCDC63 gene and the haplotype was different between the high reproduction (HR) group and low reproduction (LR) group in HS. In summary, we discovered genetic differentiation among six distinct breeding sheep breeds at the whole genome level. Additionally, we identified a set of genes which were associated with reproductive performance in Hu sheep and visualized how these genes differed in different breeds. These findings laid a theoretical foundation for understanding genetic mechanisms behind high prolific traits in sheep.
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  • 文章类型: Journal Article
    Yarkand野兔(Lepusyarkandensis)栖息在干旱的沙漠地区,是中国特有的。它已经进化出各种适应性,可以在炎热的干旱环境中生存,包括应激反应,保持水稳态和耐热性的能力。这里,我们进行了选择性扫描分析,以确定Yarkand野兔适应炎热干旱环境的候选基因。共有397237个单核苷酸多态性来自80只Yarkand兔,居住在炎热干旱的环境中,和36个托莱兔(Lepustolai),居住在气候温和的环境中,通过特定基因座扩增片段测序。我们确定了几个与热应激反应(HSPE1)相关的候选基因,氧化应激反应(SLC23A和GLRX2),免疫应答(IL1R1和IRG1),中枢神经系统发育(FGF13,THOC2,FMR1和MECP2)以及根据固定指数值和选择性扫描分析中的θπ比率调节水稳态(CDK1),其中6个基因(GLRX2、IRG1、FGF13、FMR1、MECP2和CDK1)是新发现的基因。据我们所知,这是第一项在Yarkand野兔中确定适应炎热干旱环境的候选基因的研究。这项研究的结果增强了我们对Yarkand野兔对炎热干旱环境的适应性的理解,并将有助于旨在从功能上验证这些候选基因的未来研究。
    The Yarkand hare (Lepus yarkandensis) inhabits arid desert areas and is endemic to China. It has evolved various adaptations to survive in hot arid environments, including stress responses, the ability to maintain water homeostasis and heat tolerance. Here, we performed a selective sweep analysis to identify the candidate genes for adaptation to hot arid environments in the Yarkand hare. A total of 397 237 single-nucleotide polymorphisms were obtained from 80 Yarkand hares, which inhabit hot arid environments, and 36 Tolai hares (Lepus tolai), which inhabit environments with a mild climate, via specific-locus amplified fragment sequencing. We identified several candidate genes that were associated with the heat stress response (HSPE1), oxidative stress response (SLC23A and GLRX2), immune response (IL1R1 and IRG1), central nervous system development (FGF13, THOC2, FMR1 and MECP2) and regulation of water homeostasis (CDK1) according to fixation index values and θπ ratios in the selective sweep analysis, and six of these genes (GLRX2, IRG1, FGF13, FMR1, MECP2 and CDK1) are newly discovered genes. To the best of our knowledge, this is the first study to identify candidate genes for adaptation to hot arid environments in the Yarkand hare. The results of this study enhance our understanding of the adaptation of the Yarkand hare to hot arid environments and will aid future studies aiming to functionally verify these candidate genes.
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