genetic traits

  • 文章类型: Journal Article
    质粒与病原体和抗生素抗性密切相关,以至于它们赋予其他性状的潜力经常被忽视。很少有研究考虑质粒编码的全套性状与宿主的环境适应有关,特别是革兰氏阳性细菌。为了研究质粒性状在自然生态系统微生物群落中可能发挥的作用,我们从各种土壤环境中鉴定了由弯曲杆菌(放线菌门)分离物携带的质粒。我们发现质粒很常见,但不是无处不在,在属中,其大小和遗传多样性差异很大。即使是同一生态型中密切相关的细菌菌株,也几乎没有证据表明弯曲杆菌质粒之间的系统发育保守性,表明质粒的水平传输是常见的。质粒具有广泛的性状多样性,这些性状不是宿主染色体的随机子集。此外,这些质粒性状的组成与宿主细菌的环境相关。一起,结果表明,质粒对土壤细菌的微多样性有很大贡献,这种多样性可能在生态位分化和细菌对其局部环境的适应中起作用。
    Plasmids are so closely associated with pathogens and antibiotic resistance that their potential for conferring other traits is often overlooked. Few studies consider how the full suite of traits encoded by plasmids is related to a host\'s environmental adaptation, particularly for Gram-positive bacteria. To investigate the role that plasmid traits might play in microbial communities from natural ecosystems, we identified plasmids carried by isolates of Curtobacterium (phylum Actinomycetota) from a variety of soil environments. We found that plasmids were common, but not ubiquitous, in the genus and varied greatly in their size and genetic diversity. There was little evidence of phylogenetic conservation among Curtobacterium plasmids even for closely related bacterial strains within the same ecotype, indicating that horizontal transmission of plasmids is common. The plasmids carried a wide diversity of traits that were not a random subset of the host chromosome. Furthermore, the composition of these plasmid traits was associated with the environmental context of the host bacterium. Together, the results indicate that plasmids contribute substantially to the microdiversity of a soil bacterium and that this diversity may play a role in niche differentiation and a bacterium\'s adaptation to its local environment.
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  • 文章类型: Journal Article
    溶血葡萄球菌,葡萄球菌属的关键物种,在医疗保健相关感染中具有重要意义,由于其对抗菌药物的显著耐药性,比如甲氧西林,和熟练的生物膜形成能力。这种凝固酶阴性细菌在与医院感染的斗争中提出了重大挑战。最近的研究揭示了葡萄球菌。溶血病基因组可塑性,揭示了负责抗生素抗性的遗传元件及其在属中的广泛传播。这篇综述对葡萄球菌的临床意义和患病率进行了更新和全面的概述。溶血病,强调了它在一个健康框架中的人畜共患潜力和相关性,探索关键的毒力因子,并检查遗传学特征有助于其成功引起紧急和具有挑战性的感染。此外,我们仔细检查正在进行的旨在控制传播的研究和打击传播的替代方法。
    Staphylococcus haemolyticus, a key species of the Staphylococcus genus, holds significant importance in healthcare-associated infections, due to its notable resistance to antimicrobials, like methicillin, and proficient biofilms-forming capabilities. This coagulase-negative bacterium poses a substantial challenge in the battle against nosocomial infections. Recent research has shed light on Staph. haemolyticus genomic plasticity, unveiling genetic elements responsible for antibiotic resistance and their widespread dissemination within the genus. This review presents an updated and comprehensive overview of the clinical significance and prevalence of Staph. haemolyticus, underscores its zoonotic potential and relevance in the one health framework, explores crucial virulence factors, and examines genetics features contributing to its success in causing emergent and challenging infections. Additionally, we scrutinize ongoing studies aimed at controlling spread and alternative approaches for combating it.
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  • 文章类型: Journal Article
    这项研究的目的是评估与Arauca双重目的牲畜系统中奶牛的亚临床乳腺炎(SCM)患病率相关的环境和品种风险因素,哥伦比亚Orinoquia.牛奶样本取自1924年的乳腺宿舍,对应于28个不同农场的481头牛,并应用加州乳腺炎测试(CMT)。使用多元logistic回归分析确定与SCM相关的危险因素。响应变量是SCM的存在(1)或不存在(0)。品种被列为遗传风险因素,和每日牛奶产量,生产中的奶牛数量,泌乳月,产牛数,奶牛年龄,气候时期,和身体状况作为环境危险因素。显著效应的比值比(OR)分析表明,与SCM存在显著相关的因素是奶牛的数量(OR=2.29;p=0.005),产奶量(OR=0.88;p=0.045),金牛座-Indicus品种(OR=1.79;p=0.009)和复合品种(OR=3.95;p=0.005)。在这项研究中,SCM的发生由以下危险因素决定:奶牛数量,牛奶生产,和品种。同样,最高的流行率似乎发生在技术发展和对来自最低社会经济阶层的生产者的卫生管理较少的农场。
    The aim of this study was to assess the environmental and breed risk factors associated with the prevalence of subclinical mastitis (SCM) in cows in the dual-purpose livestock system of Arauca, Colombian Orinoquia. Milk samples were taken from 1924 mammary quarters, corresponding to 481 cows on 28 different farms, and the California Mastitis Test (CMT) was applied. Risk factors associated with SCM were determined using multiple logistic regression analysis. The response variable was the presence (1) or absence (0) of SCM. Breed was included as a genetic risk factor, and daily milk production, number of cows in production, lactation month, calving number, cow age, climatic period, and body condition were included as environmental risk factors. The analysis of the odds ratio (OR) of significant effects indicated that the factors significantly associated with the presence of SCM were the number of cows (OR = 2.29; p = 0.005), milk production (OR = 0.88; p = 0.045), and the Taurus-Indicus breeds (OR = 1.79; p = 0.009) and composite breed (OR = 3.95; p = 0.005). In this study, the occurrence of SCM was determined by the following risk factors: number of cows, milk production, and breed. Likewise, the highest prevalence seemed to occur on farms with less technological development and sanitary management of producers from the lowest socioeconomic stratum.
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  • 文章类型: Journal Article
    原核生物-病毒相互作用在驱动生物地球化学循环中起关键作用。然而,对塑造他们互动网络结构的驱动因素知之甚少,特别是从主机功能。这里,我们在全球环境中的39个原核生物门中编译了7656个物种水平的基因组,并探索了它们的相互作用专业化如何受到宿主生活史特征的限制,比如增长率。
    我们首先报道,最小倍增时间的反向指示的宿主生长速率与跨各种生态系统和分类学组的宿主-前病毒网络中宿主的相互作用专业化呈负相关。这种负线性生长速率-专业化关系(GrSR)取决于宿主最佳生长温度(OGT),并且朝向OGT的两个梯度末端更强。例如,OGT≥40°C的原核物种显示出更强的GrSR(Pearson的r=-0.525,P<0.001)。在吸附阶段,随着宿主基因的存在,在促进感染周期中观察到显着的GrSR,建立,和病毒释放,但是免疫系统的存在并不重要,如限制性修饰系统和CRISPR-Cas系统。此外,GrSR强度随着温度依赖性裂解开关的存在而增加,数学建模也证实了这一点。
    一起,我们的研究结果促进了我们对原核生物和原生物之间相互作用的理解,并强调了溶源化过程中宿主生长速率在相互作用专业化中的重要性.视频摘要。
    Prokaryote-virus interactions play key roles in driving biogeochemical cycles. However, little is known about the drivers shaping their interaction network structures, especially from the host features. Here, we compiled 7656 species-level genomes in 39 prokaryotic phyla across environments globally and explored how their interaction specialization is constrained by host life history traits, such as growth rate.
    We first reported that host growth rate indicated by the reverse of minimal doubling time was negatively related to interaction specialization for host in host-provirus network across various ecosystems and taxonomy groups. Such a negative linear growth rate-specialization relationship (GrSR) was dependent on host optimal growth temperature (OGT), and stronger toward the two gradient ends of OGT. For instance, prokaryotic species with an OGT ≥ 40 °C showed a stronger GrSR (Pearson\'s r = -0.525, P < 0.001). Significant GrSRs were observed with the presences of host genes in promoting the infection cycle at stages of adsorption, establishment, and viral release, but nonsignificant with the presence of immune systems, such as restriction-modification systems and CRISPR-Cas systems. Moreover, GrSR strength was increased with the presence of temperature-dependent lytic switches, which was also confirmed by mathematical modeling.
    Together, our results advance our understanding of the interactions between prokaryotes and proviruses and highlight the importance of host growth rate in interaction specialization during lysogenization. Video Abstract.
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  • 文章类型: Journal Article
    这项研究旨在探索遗传特征的种内分布,这些遗传特征有利于在胃肠道(GIT)中的持久性和属于乳杆菌属的细菌的宿主相互作用。这些细菌物种包括在消费者中最广泛使用的商业益生菌和在GIT和发酵食品中天然存在的菌株。由于对粘附能力的遗传性状的分布知之甚少,多糖生产,生物膜的形成,以及对GIT生存至关重要的底物的利用,影响益生菌的特性,通过在广泛表征的益生菌鼠李糖乳杆菌GG的基因组中搜索涉及上述方面的特定基因,创建了可能涉及这些功能的遗传决定子列表。检索了82个基因位点,它们在其他乳杆菌中的存在和变异性。通过与公开的完全注释的基因组序列进行比对来评估基因组。L.paracasei,L.鼠李糖,还有L.Zeae.发现这些基因中有49个在某些菌株或物种中不存在。其余的基因是保守的,几乎涵盖了所有的功能,表明该属的所有菌株都可能发挥一些益生菌作用。在可变基因座中,通过基于PCR的测试,检查了从婴儿粪便中分离出的26个菌株中牛磺酸利用操纵子和α-L-岩藻糖苷酶的存在/不存在。结果在分离株之间是可变的,尽管它们的共同起源表明了在肠道利基中生存的能力。这项研究表明,乳杆菌具有发挥益生菌作用的能力。取决于一组保守的基因,但可变的遗传因素,其作用仅部分阐明,更多,可以解释一些菌株的益生菌特性增强。通过分析一组可变性状的存在/不存在,选择最有希望用于食品的益生菌候选物是可行的。
    This study aims to explore the intra-species distribution of genetic characteristics that favor the persistence in the gastrointestinal tract (GIT) and host interaction of bacteria belonging to species of the Lacticaseibacillus genus. These bacterial species comprise commercial probiotics with the widest use among consumers and strains naturally occurring in GIT and in fermented food. Since little is known about the distribution of genetic traits for adhesion capacity, polysaccharide production, biofilm formation, and utilization of substrates critically important for survival in GIT, which influence probiotic characteristics, a list of genetic determinants possibly involved in such functions was created by a search for specific genes involved in the above aspects in the genome of the extensively characterized probiotic L. rhamnosus GG. Eighty-two gene loci were retrieved and their presence and variability in other Lacticaseibacillus spp. genomes were assessed by alignment with the publicly available fully annotated genome sequences of L. casei, L. paracasei, L. rhamnosus, and L. zeae. Forty-nine of these genes were found to be absent in some strains or species. The remaining genes were conserved and covered almost all the functions considered, indicating that all strains of the genus may exert some probiotic effects. Among the variable loci, a taurine utilization operon and a α-L-fucosidase were examined for the presence/absence in 26 strains isolated from infant feces by PCR-based tests. Results were variable among the isolates, though their common origin indicated the capacity to survive in the intestinal niche. This study indicated that the capacity to exert probiotic actions of Lacticaseibacillus spp. depends on a conserved set of genes but variable genetic factors, whose role is only in part elucidated, are more numerous and can explain the enhanced probiotic characteristics for some strains. The selection of the most promising probiotic candidates to be used in food is feasible by analyzing the presence/absence of a set of variable traits.
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  • 文章类型: Journal Article
    宫颈癌是全球女性癌症相关死亡的第四大原因。尽管已经进行了许多测序研究,宫颈癌的遗传特征仍有待充分阐明,尤其是亚洲人口。在这里,我们使用经过验证的多基因下一代测序(NGS)小组调查了中国宫颈癌患者的遗传格局.我们分析了64个样本,由来自32名中国宫颈癌患者的32个肿瘤和32个血液样本组成,通过对571个癌症相关基因进行多基因NGS。共有810个体细胞变异,鉴定了2730种系突变和701个拷贝数变异(CNV)。FAT1,HLA-B,PIK3CA,MTOR,KMT2D和ZFHX3是突变最多的基因。Further,PIK3CA,BRCA1、BRCA2、ATM和TP53基因位点具有较高的CNVs发生频率。此外,通过与ONCOKB数据库的比较,进一步强调了PIK3CA在宫颈癌中的作用,尤其是E545K和E542K,据报道,这对宫颈癌具有放射抗性。值得注意的是,对潜在治疗靶点的分析表明,宫颈癌患者可以从PARP抑制剂中获益.这种多基因NGS分析揭示了中国宫颈癌患者的几种新的遗传改变,并强调了PIK3CA在宫颈癌中的作用。总的来说,这项研究表明,遗传变异不仅影响宫颈癌的遗传易感性,还会影响宫颈癌对放疗的抵抗力,但应该开展更多患者人群的进一步研究来验证这些发现.
    Cervical cancer is the fourth leading cause of cancer-related deaths in women worldwide. Although many sequencing studies have been carried out, the genetic characteristics of cervical cancer remain to be fully elucidated, especially in the Asian population. Herein, we investigated the genetic landscape of Chinese cervical cancer patients using a validated multigene next generation sequencing (NGS) panel. We analyzed 64 samples, consisting of 32 tumors and 32 blood samples from 32 Chinese cervical cancer patients by performing multigene NGS with a panel targeting 571 cancer-related genes. A total of 810 somatic variants, 2730 germline mutations and 701 copy number variations (CNVs) were identified. FAT1, HLA-B, PIK3CA, MTOR, KMT2D and ZFHX3 were the most mutated genes. Further, PIK3CA, BRCA1, BRCA2, ATM and TP53 gene loci had a higher frequency of CNVs. Moreover, the role of PIK3CA in cervical cancer was further highlighted by comparing with the ONCOKB database, especially for E545K and E542K, which were reported to confer radioresistance to cervical cancer. Notably, analysis of potential therapeutic targets suggested that cervical cancer patients could benefit from PARP inhibitors. This multigene NGS analysis revealed several novel genetic alterations in Chinese patients with cervical cancer and highlighted the role of PIK3CA in cervical cancer. Overall, this study showed that genetic variations not only affect the genetic susceptibility of cervical cancer, but also influence the resistance of cervical cancer to radiotherapy, but further studies involving a larger patient population should be undertaken to validate these findings.
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  • 文章类型: Journal Article
    沿海地形的变化可能在遗传上改变了Chilika湖现存的物种多样性。从未从该生态系统中尝试过口足类的遗传评估。该研究产生了黄连的第一个遗传信息(mtCOI)。C.immaculata的DNA序列与NJ树的姊妹种Harpiosquillaharpax和进化枝显示12.9%的遗传差异。Alima,Harpiosquilla,和Oratosquilla表现出很高的同属/同种遗传差异(20.9%,15.7%,和7.2%),并在系统发育中分别存在;与其不同的种群相关。我们建议对口足类进行更广泛的调查并生成分子数据,以解决分类学的不确定性。
    The changes of coastal topography might have genetically altered the extant species diversity in Chilika Lake. The genetic assessment of stomatopods has never been attempted from this ecosystem. The study generate the first genetic information (mtCOI) of Cloridopsis immaculata. DNA sequences of C. immaculata shows 12.9% genetic divergence with Harpiosquilla harpax and clade as sister species in NJ tree. Alima, Harpiosquilla, and Oratosquilla shows high congeneric/conspecific genetic divergence (20.9%, 15.7%, and 7.2%) and cladded separately in the phylogeny; correlate to their diverse populations. We recommend more extensive survey of stomatopods and generation of molecular data to resolve the taxonomic uncertainty.
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  • 文章类型: Journal Article
    The Sicilian black pig (SB) (Nero Siciliano), also known as the Nero dei Nebrodi, Nero delle Madonie, or Nero dell\'Etna pig ecotype, is an autochthonous Italian breed. The origins of this breed date back to Greek and Carthaginian dominations. In ancient times, its breeding was fairly common throughout Sicily, registering only a temporary reduction during the Arab domination. This breed is known primarily for its distinctive black coat, although some individuals display wattles and a partially or wholly white face. The SB pig has a birth rate with an average per sow of 7.6 piglets, each of 1.4 kg live body weight, showing an average daily gain (ADG) of 346 g/day during the fattening period. Slaughter generally takes place at an average age of 390 days, with an average live weight of 95 kg. This breed also appears to withstand adverse climatic conditions and resist disease. The purpose of this manuscript is to offer a general overview regarding the Sicilian Black pig and to consider the recent findings related to genome investigation. The recent application of Next Generation Sequencing (NGS) technologies in the study of the genome of autochthonous breeds showed that polymorphisms of some candidate genes for production performance and phenotypic traits represent important information for selection processes. The protection of autochthonous breeds, intended as sources of genomic diversity for the further improvements of pigs for commercial use, constitutes a valuable opportunity to create new sustainable pig chains.
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  • 文章类型: Journal Article
    Trophoblast cells play essential roles in the maintenance of normal embryo implantation, growth and development. The study of abnormal gene changes in trophoblastic cells from arrested embryos is helpful to understand the developmental mechanism of embryo developmental cessation or adverse pregnancy outcomes. In this study, we sequenced and analyzed the transcriptomes of the villi from ten women who have undergone abortion with either normal pregnancy or embryo development cessation. We found that there were 436 differentially expressed genes, of which 406 mRNA were significantly up-regulated and 32 mRNA were significantly down-regulated. Gene enrichment analysis showed that these genes were significantly enriched in immune-related functions and intercellular adhesion, such as lymphocyte activation, myeloid cell activation, extracellular matrix and collagen junction. And their potential regulatory pathways were enriched in terms of complement and coagulation cascade, extracellular matrix degradation. In addition, in this study the co-expression analysis of WGCNA was used to obtain the lncRNA with co-expression relationship with the differential genes. According to the different functions of the modules, two network diagrams were drawn, and four key genes were obtained, namely VSIG4, C1QC, CD36 and SPP1. These differential genes obtained in this study can be used as key molecules with potential effects on embryo development cessation. The enriched entries can provide a theoretical basis and new direction for further understanding of the etiology and mechanism of embryo development cessation or adverse pregnancy outcomes.
    滋养层细胞对维持正常胚胎植入、生长发育有重要作用。研究停育胚胎的滋养层细胞的基因表达差异有助于了解胚胎发育停止或不良妊娠结局的发生发展机制。本研究通过对26例正常妊娠、胚胎停育妇女的绒毛组织进行全转录组测序和初步生物信息学分析,发现胚胎停育组存在436个差异基因,其中406个mRNA为显著上调基因,32个mRNA为显著下调基因。基因富集分析显示这些基因显著富集于免疫相关功能、细胞间黏附等方面,如淋巴细胞激活、髓系细胞激活、细胞外基质及胶原连接等,其潜在调控通路富集到补体及凝血级联反应和细胞外基质降解等条目。此外,本研究利用WGCNA共表达分析得到和差异基因存在共表达关系的lncRNA。根据模块功能不同,绘制了两个网络图,可得4个关键基因,分别为VSIG4、C1QC、CD36和SPP1。本研究得到的这些差异基因可作为对胚胎停育具有潜在影响的关键分子,所富集到的条目可为深入了解胚胎发育停止或不良妊娠结局的病因及机制提供理论依据及方向。.
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  • 文章类型: Journal Article
    急性间歇性卟啉症(AIP)是一种显性遗传性疾病,具有低外显率,是由编码羟甲基双环合酶(HMBS)的基因突变引起的。关于这种罕见疾病的流行病学和分子遗传学特征的信息对临床研究至关重要,特别是评估新的治疗方法。各种研究中AIP的患病率和外显率的差异可能是由于纳入标准和评估方法的不同。这里,系统分析了AIP的患病率和外显率,并总结了不同群体的遗传性状和基因型-表型相关性的发现。此外,不少研究表明AIP易感性受其他因素影响,比如修改基因。关于可能的修饰基因的发现记录在这里,有助于揭示AIP的发病机制和治疗方法。中国对AIP的研究现状揭示了中国人群缺乏流行病学和遗传学研究,需要及时补救的情况。
    Acute intermittent porphyria (AIP) is a dominant inherited disorder with a low penetrance that is caused by mutations in the gene coding for hydroxymethylbilane synthase (HMBS). Information about the epidemiology and molecular genetic features of this rare disorder is crucial to clinical research, and particularly to the evaluation of new treatments. Variations in the prevalence and penetrance of AIP in various studies may due to the different inclusion criteria and methods of assessment. Here, the prevalence and penetrance of AIP are analyzed systematically, and the genetic traits of different populations and findings regarding the genotype-phenotype correlation are summarized. In addition, quite a few studies have indicated that AIP susceptibility was affected by other factors, such as modifying genes. Findings regarding possible modifying genes are documented here, helping to reveal the pathogenesis of and treatments for AIP. The status of research on AIP in China reveals the lack of epidemiological and genetic studies of the Chinese population, a situation that needs to be promptly remedied.
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