inheritance

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  • 文章类型: Journal Article
    节食夜蛾是一种重要的全球性害虫,并且在中国广泛使用chloantraniliprole(CAP)进行控制。了解S.frugiperda的CAP抗性对于有效管理这种害虫至关重要。田间种群对CAP表现出不同程度的抗性(RR=1.74-5.60倍)。经过10代的选择,抗CAP菌株发展超过10倍的抗性,实现遗传力(h2)为0.10。遗传分析揭示了遗传模式为常染色体,不完全隐性,和单因子。CAP抗性菌株对卢芬隆和四氯苯三烯的交叉抗性有限,对spinetoram的负交叉抗性,并且没有观察到对其他杀虫剂的交叉抗性。生化分析表明,P450介导的解毒是主要的耐药机制,26个基因在CAP抗性菌株中过表达。此外,CYP4L13,CYP6B39,CYP6B40和CYP4G74的敲除显着增加了抗性幼虫对CAP的敏感性。这些发现强调了在S.frugiperda中CAP的抗性风险,并强调了P450酶在抗性中的关键作用。
    Spodoptera frugiperda is a significant global pest, and chlorantraniliprole (CAP) is extensively used in China for its control. Understanding CAP resistance in S. frugiperda is crucial for effective management of this pest. Field populations exhibited varying degrees of resistance to CAP (RR = 1.74-5.60-fold). After 10 generations of selection, the CAP-resistant strain developed over 10-fold resistance, with a realized heritability (h2) of 0.10. Genetic analysis reveals inheritance patterns as autosomal, incomplete recessive, and monofactorial. The CAP-resistant strain showed limited cross-resistance to lufenuron and tetrachlorantraniliprole, negative cross-resistance to spinetoram, and no observed cross-resistance to other insecticides. Biochemical analysis suggested that P450-mediated detoxification is the primary resistance mechanism, with 26 genes overexpressed in the CAP-resistant strain. Additionally, the knockdown of CYP4L13, CYP6B39, CYP6B40, and CYP4G74 significantly increased the sensitivity of the resistant larvae to CAP. These findings highlight the resistance risk of CAP in S. frugiperda and emphasize the crucial role of P450 enzymes in resistance.
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  • 文章类型: Journal Article
    为了探索临床特征,病因因素,与OmicronBF.7.14新型冠状病毒相关的急性坏死性脑病(ANE)儿童的临床相关遗传变异。
    通过全外显子组测序检测基因组变异。此外,我们总结了临床数据,以探讨与新型冠状病毒相关的ANE的遗传模式。
    这项研究包括4名患者(2名男性和2名女性),平均年龄为2.78±1.93岁。所有患者均有OmicronBF.7.14病毒感染的前驱症状,表现出意识改变等症状,癫痫发作和认知/语言障碍。头颅MRI扫描显示丘脑受损,基底神经节和脑干。脑脊液(CSF)细胞计数接近正常,但脑脊液中的蛋白质水平显著增加。遗传分析显示,在一名昏迷评分和预后更严重且在后期死亡的患者中,CRMP2基因的新型截短变体。所有儿童都表现出T淋巴细胞绝对计数的减少,辅助性T细胞,抑制性T细胞,和不同程度的NK细胞。此外,细胞因子的水平,包括IL-1β,IL-5、IL-6和IL-8在CSF中显著升高,特别是在CRMP2基因截短变异的患者中。
    OmicronBF.7.14型新型冠状病毒可导致ANE,其特征在于T细胞免疫抑制和CSF中细胞因子水平的显著增加。CRMP2基因的截短变异可能通过影响脑T细胞的迁移而影响ANE的预后。
    UNASSIGNED: To explore the clinical characteristics, etiological factors, and clinical-related genetic variant of children with acute necrotizing encephalopathy (ANE) related to the Omicron BF.7.14 novel coronavirus.
    UNASSIGNED: Genomic variations were detected through whole exome sequencing. Additionally, we summarized the clinical data to explore the inheritance patterns associated with novel coronavirus-related ANE.
    UNASSIGNED: This study included four patients (2 males and 2 females) with an average age of 2.78 ± 1.93 years. All the patients had prodromal symptoms of Omicron BF.7.14 virus infection, and exhibited symptoms such as altered consciousness, seizures and cognitive/language disturbances. Cranial MRI scans revealed damage to the thalamus, basal ganglia and brainstem. The cerebrospinal fluid (CSF) cell counts were nearly normal, but protein level in CSF increased significantly. Genetic analysis revealed a novel truncated variant of CRMP2 gene in one patient who suffered more severe coma score and prognosis and dead in the later stages. All children exhibited a decrease in the absolute count of T lymphocytes, helper T cells, suppressor T cells, and NK cells to varying degrees. Furthermore, levels of cytokines, including IL-1 β, IL-5, IL-6 and IL-8 were significantly elevated in the CSF, especially in patient with truncated variant of CRMP2 gene.
    UNASSIGNED: The Omicron BF.7.14 type novel coronavirus can lead to ANE, characterized by T cell immunosuppression and a significant increase in cytokine levels in the CSF. The truncated variation of CRMP2 gene may affect the prognosis of ANE by affecting the migration of cerebral T cells.
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  • 文章类型: Journal Article
    内分泌干扰物质(EDCs)在生态环境中普遍存在,自20世纪90年代以来已成为公众关注的重大问题。人们对EDCs的毒性有了深刻的科学认识。然而,最近的研究发现,由EDC引起的父母的异常生理功能可以传播给他们的未暴露的后代,导致代际毒性。我们质疑持续的表观遗传变化是否通过男性种系发生。在这次审查中,我们(1)系统地搜索了有关EDC在水生和哺乳动物生物中的代际影响的现有研究,包括42条,(2)总结了代际遗传效应,比如后代存活率下降,异常生殖功能障碍,代谢紊乱,和行为异常,(3)总结了通过父系相互作用产生代际毒性的机制,(4)对未来的研究方向提出建议,以加深对EDC生态风险的认识。
    Endocrine-disrupting chemicals (EDCs) are ubiquitous in ecological environments and have become a great issue of public health concern since the 1990 s. There is a deep scientific understanding of the toxicity of EDCs. However, recent studies have found that the abnormal physiological functions of the parents caused by EDCs could be transmitted to their unexposed offspring, leading to intergenerational toxicity. We questioned whether sustained epigenetic changes occur through the male germline. In this review, we (1) systematically searched the available research on the intergenerational impacts of EDCs in aquatic and mammal organisms, including 42 articles, (2) summarized the intergenerational genetic effects, such as decreased offspring survival, abnormal reproductive dysfunction, metabolic disorders, and behavioral abnormalities, (3) summarized the mechanisms of intergenerational toxicity through paternal interactions, and (4) propose suggestions on future research directions to develop a deeper understanding of the ecological risk of EDCs.
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  • 文章类型: Journal Article
    目的:关于强直性脊柱炎(AS)与继发性系统性淀粉样变性(SSA)之间的因果关系仍存在争议。本研究利用来自全基因组关联研究(GWAS)人群队列的汇总数据来调查AS和SSA之间是否存在因果关系。
    方法:使用双样本孟德尔随机化(TSMR)分析了AS状态和SSA之间的遗传因果关系。分析使用加权模式方法(WM2)进行,方差逆加权法(IVW),简单模式(SM),加权中位数法(WM1),和孟德尔随机化Egger回归(MR-Egger)。在这些方法中,主要结果基于IVW方法.使用比值比(OR)和95%置信区间(95%CI)评估关联。
    结果:IVW分析显示AS状态与SSA之间存在正的因果关系(OR=1.411,95%CI=1.069,1.862,P=0.015)。同时,WM1(OR=1.394,95%CI=1.115,1.742,P=0.004)和WM2(OR=1.393,95%CI=1.112,1.743,P=0.045)方法也确定了AS状态和SSA之间的正因果关系。MR-Egger方法未发现AS和SSA之间的因果关系(OR=1.175,95%CI=0.888,1.555,P=0.342)。SM结果表明,观察到的基因型在AS和SSA之间没有统计学上的显着差异(OR=1.184,95%CI=0.416,3.366,P=0.767)。MR-Egger回归结果表明,结果不受遗传多效性引起的偏倚影响(截距=0.283,SE=0.134,P=0.126)。Cochran的Q检验没有发现任何显著的异质性(Q=1.759,P=0.624)。“留一法”分析进一步证实,不存在任何单个SNP不会影响我们结果的稳健性。
    结论:这项研究揭示了AS状态与SSA发生之间的正因果关系,为SSA的遗传分析提供新的见解。
    OBJECTIVE: There is still controversy regarding the causal relationship between ankylosing spondylitis (AS) and secondary systemic amyloidosis (SSA). This study utilized aggregated data from genome-wide association studies (GWAS) on population cohorts to investigate whether a causal relationship exists between AS and SSA.
    METHODS: The genetic causal relationship between AS status and SSA was analyzed utilizing a two-sample Mendelian randomization (TSMR). The analyses were conducted using the weighted mode method (WM2), inverse variance weighted method (IVW), simple mode (SM), weighted median method (WM1), and Mendelian randomization Egger regression (MR-Egger). Among these methods, the primary results were based on the IVW approach. The association was evaluated using the odds ratio (OR) along with a 95% confidence interval (95% CI).
    RESULTS: The IVW analysis revealed a positive causal relationship between AS status and SSA (OR = 1.411, 95 % CI = 1.069, 1.862, P = 0.015). Meanwhile, the WM1 (OR = 1.394, 95 % CI = 1.115, 1.742, P = 0.004) and WM2 (OR = 1.393, 95 % CI = 1.112, 1.743, P = 0.045) methods also identified a positive causal relationship between AS status and SSA. The MR-Egger method did not identify a causal relationship between AS and SSA (OR = 1.175, 95 % CI = 0.888, 1.555, P = 0.342). The SM results demonstrated that the observed genotypes did not exhibit statistically significant differences between AS and SSA (OR = 1.184, 95 % CI = 0.416, 3.366, P = 0.767). The results of the MR-Egger regression suggested that the results were unaffected by bias caused by genetic pleiotropy (Intercept = 0.283, SE = 0.134, P = 0.126). Cochran\'s Q test did not reveal any significant heterogeneity (Q = 1.759, P = 0.624). The \"leave-one-out\" analysis further confirmed that the absence of any single SNP did not impact the robustness of our results.
    CONCLUSIONS: This study revealed a positive causal relationship between AS status and the occurrence of SSA, providing new insights into the genetic analysis of SSA.
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  • 文章类型: Journal Article
    背景:柑橘红螨,citripanaonychuscitri(McGregor),一种全球性的柑橘害虫,在该领域对各种杀螨剂产生了不同程度的抗性。阿维菌素是世界范围内最重要的杀虫剂/杀螨剂之一,其目标是大量的昆虫和螨害虫。阿维菌素抗性的演变正在威胁阿维菌素用于控制螨的可持续使用。
    结果:阿维菌素抗性菌株(NN-Aba),通过与阿维菌素的一致选择从田间菌株NN中提取,与相对易感的P.citri菌株(SS)相比,对阿维菌素具有4,279倍的抗性。在阿维菌素和甲氨基阿维菌素苯甲酸酯之间观察到NN-Aba的交叉抗性,吡啶甲酸,甲氰菊酯,以及西氟美托芬。遗传分析表明,NN-Aba菌株的阿维菌素抗性是常染色体,不完全隐性和多基因。协同实验表明,胡椒基丁醚(PBO)对阿维菌素的毒性有协同作用,马来酸二乙酯(DEM),和在NN-Aba菌株中的三丁基磷酸三硫代磷酸酯(TPP),协同率为2.72-,2.48-,和2.13倍,分别。与NN菌株相比,NN-Aba菌株中的谷胱甘肽S-转移酶活性显着提高了2.08倍。
    结论:阿维菌素耐药是常染色体,不完全隐性和多基因的P.citri。NN-Aba菌株对具有不同作用方式的各种杀螨剂显示出交叉抗性。代谢解毒机制参与了NN-Aba菌株对阿维菌素的耐药性。这些发现为该领域的柑橘芽孢杆菌的抗性管理提供了有用的信息。本文受版权保护。保留所有权利。
    BACKGROUND: The citrus red mite, Panonychus citri (McGregor), a global pest of citrus, has developed different levels of resistance to various acaricides in the field. Abamectin is one of the most important insecticides/acaricides worldwide, targetting a wide number of insect and mite pests. The evolution of abamectin resistance in P. citri is threatening the sustainable use of abamectin for mite control.
    RESULTS: The abamectin resistant strain (NN-Aba), derived from a field strain NN by consistent selection with abamectin, showed 4279-fold resistance to abamectin compared to a relatively susceptible strain (SS) of P. citri. Cross-resistance of NN-Aba was observed between abamectin and emamectin benzoate, pyridaben, fenpropathrin and cyflumetofen. Inheritance analyses indicated that abamectin resistance in the NN-Aba strain was autosomal, incompletely recessive and polygenic. The synergy experiment showed that abamectin toxicity was synergized by piperonyl butoxide (PBO), diethyl maleate (DEM) and tributyl phosphorotrithiotate (TPP) in the NN-Aba strain, and synergy ratios were 2.72-, 2.48- and 2.13-fold, respectively. The glutathione-S-transferases activity in the NN-Aba strain were significantly increased by 2.08-fold compared with the SS strain.
    CONCLUSIONS: The abamectin resistance was autosomal, incompletely recessive and polygenic in P. citri. The NN-Aba strain showed cross-resistance to various acaricides with different modes of action. Metabolic detoxification mechanism participated in abamectin resistance in NN-Aba strain. These findings provide useful information for resistance management of P. citri in the field. © 2023 Society of Chemical Industry.
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  • 文章类型: English Abstract
    With China\'s outstanding achievements in the prevention and treatment of hepatitis, hereditary cholestasis caused by genetic variants has gradually become an important cause of death or transplantation in children with liver disease. The continuous identification of new pathogenic genes expands the disease spectrum and clinician\'s understanding of disease. The disease characteristics and clinical manifestations of hereditary cholestasis caused by different gene variants vary, and the severity of diseases caused by the same gene variants and the response to treatment are also significantly different. Therefore, early genetic diagnosis is of great value for improving the clinical management of patients. In terms of treatment, in addition to traditional drugs and surgery, targeted therapy and gene therapy are also gradually moving towards clinical application. Advances in metabolomics, gene editing technology, and structural biology have made it possible to provide personalized and precise treatment of children with hereditary cholestasis in the future; however, this which will put forward higher requirements for on relevant practitioners.
    随着我国在病毒性肝炎防治方面取得巨大成就,由基因缺陷引起的遗传性胆汁淤积症已逐渐成为儿童期肝病死亡或移植的重要原因。不断发现新的致病基因拓展了疾病谱和人们对疾病的认知。不同基因缺陷引起的遗传性胆汁淤积症的疾病特点和临床表现各异,同一基因缺陷引起疾病的严重程度和对治疗的反应也差异显著,早期基因诊断对改善患者的临床管理具有重要价值。治疗方面,除了传统药物和手术外,靶向治疗和基因治疗等也逐步走向临床应用。代谢组学、基因编辑技术和结构生物学的发展使得未来对遗传性胆汁淤积病患儿的个体化精准治疗成为可能,这也给相关从业人员提出了更高要求。.
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  • The paper reviews the inheritance, innovation and development of heat-sensitive moxibustion; and explores the path for the clinical development of moxibustion of traditional Chinese medicine moxibustion (TCM). Practice has shown that the laws of clinical research on TCM moxibustion refer to phenomenon discovery, exploration of rules, technological innovation, verification of curative effects, theory sublimation, returning to clinical practice, discipline construction, and experimental research. It is deeply realized that TCM research should be based on clinical practice, originated from classics, focused on theoretical innovation and in serve of clinical practice.
    回顾热敏灸传承、创新与发展的历程,探讨中医灸法临床发展之路。实践表明,发现现象、认识规律、创新技术、检验疗效、升华理论、回归临床、学科建设、基础研究是中医灸法临床研究的自身规律。深刻认识到中医研究基于临床、源于经典、理论创新、回归临床的重要意义。.
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  • 文章类型: Journal Article
    神经核内包涵体病(NIID)是一种罕见的,但可能是由于NOTCH2NLC基因中致病性GGC扩增而未被诊断的神经退行性疾病。在这次审查中,我们总结了继承功能的最新进展,发病机制,NIID的组织病理学和放射学特征颠覆了以前对NIID的看法。GGC重复大小决定了NIID患者的发病年龄和临床表型。NIID中可能没有预期,但在NIID谱系中观察到父系偏倚。曾经被认为是NIID的病理标志的皮肤组织中的嗜酸性粒细胞核内包涵体也可以存在于其他GGC重复疾病中。曾经被认为是NIID的成像标志的沿皮质髓质交界处的弥散加权成像(DWI)高强度在NIID的肌肉无力和帕金森病表型中通常不存在。此外,DWI异常可在主要症状发作后数年出现,甚至可随疾病进展而完全消失。此外,其他神经退行性疾病患者中NOTCH2NLCGGC扩增的连续报道导致NOTCH2NLC相关GGC重复扩增障碍(NRED)的新概念的提出.然而,通过回顾以前的文献,我们指出了这些研究的局限性,并提供证据证明这些患者实际上患有NIID的神经退行性表型.
    Neuronal intranuclear inclusion disease (NIID) is a rare but probably underdiagnosed neurodegenerative disorder due to pathogenic GGC expansions in the NOTCH2NLC gene. In this review, we summarize recent developments in the inheritance features, pathogenesis, and histopathologic and radiologic features of NIID that subvert the previous perceptions of NIID. GGC repeat sizes determine the age of onset and clinical phenotypes of NIID patients. Anticipation may be absent in NIID but paternal bias is observed in NIID pedigrees. Eosinophilic intranuclear inclusions in skin tissues once considered pathological hallmarks of NIID can also present in other GGC repeat diseases. Diffusion-weighted imaging (DWI) hyperintensity along the corticomedullary junction once considered the imaging hallmark of NIID can frequently be absent in muscle weakness and parkinsonism phenotype of NIID. Besides, DWI abnormalities can appear years after the onset of predominant symptoms and may even disappear completely with disease progression. Moreover, continuous reports of NOTCH2NLC GGC expansions in patients with other neurodegenerative diseases lead to the proposal of a new concept of NOTCH2NLC-related GGC repeat expansion disorders (NRED). However, by reviewing the previous literature, we point out the limitations of these studies and provide evidence that these patients are actually suffering from neurodegenerative phenotypes of NIID.
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  • 文章类型: Review
    秋天的粘虫,节食夜蛾,是玉米的重要经济害虫,棉花,和大豆,和表达苏云金芽孢杆菌(Bt)蛋白的转基因作物的主要目标。近年来,这种昆虫入侵了非洲的大多数国家,东南亚,大洋洲,对粮食安全构成巨大威胁。在美国成功使用Bt作物表明,Bt技术可以成为其他国家管理S.frugiperda的有效工具。昆虫抗性的进化是Bt技术长期功效的主要威胁。有许多因素可能影响昆虫对Bt作物的抗性进化速度,其中包括初始抗性等位基因频率,Bt作物中Bt蛋白的剂量,交叉电阻,完全/不完全抗性,以及与抵抗力相关的健身成本。目前,高剂量/避难所和基因金字塔方法是美国用于对抗昆虫抗性进化的两种主要IRM策略。在本文中,本文综述了植物对Cry1、Cry2和Vip3Aa蛋白的抗性研究。具体来说,我们讨论了S.frugiperda对这三种蛋白质的抗性等位基因频率,抗性的遗传基础,交叉抵抗的模式,以及与抵抗力相关的健身成本。从这些研究中获得的经验和知识为成功使用Bt作物技术在全球范围内控制S.frugiperda提供了有价值的信息。
    The fall armyworm, Spodoptera frugiperda, is an economically important pest of corn, cotton, and soybean, and a major target of transgenic crops expressing Bacillus thuringiensis (Bt) proteins. In recent years, this insect has invaded most countries in Africa, Southeastern Asia, and Oceania, posing a great threat to food security. Successful use of Bt crops in the U.S. indicates that Bt technology can be an effective tool for management of S. frugiperda in other countries. Evolution of insect resistance is the primary threat to the long-term efficacy of Bt technology. There are many factors that may affect the rate of evolution of insect resistance to Bt crops, which include initial resistance allele frequency, the dose of Bt protein in Bt crops, cross-resistance, complete/incomplete resistance, and fitness costs associated with resistance. Currently, the high dose/refuge and gene-pyramiding approaches are the two main IRM strategies used in the U.S. to combat evolution of insect resistance. In this paper, we review research on resistance of S. frugiperda to Cry1, Cry2, and Vip3Aa proteins. Specifically, we discuss the resistance allele frequencies of S. frugiperda to these three proteins in the field, the genetic basis of resistance, the patterns of cross-resistance, and the fitness costs associated with resistance. Experience and knowledge gained from these studies provide valuable information for the successful use of Bt crop technology for control of S. frugiperda worldwide.
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  • 文章类型: Journal Article
    阿维菌素,由居住在土壤中的放线菌产生,属于大环内酯类农药,有杀线虫作用,杀螨,和杀虫活性,并且在针对目标物种使用时非常有效。烟粉虱,烟草粉虱,是一种对全球农业生产具有高度破坏性的昆虫,并且在中国已经鉴定出各种抗杀虫剂菌株。这里,我们监测了来自中国北方的12个野外收集的烟粉虱种群对阿维菌素的抗性水平,并确认,与实验室参考应变相比,六个野外种群表现出强烈的阿维菌素抗性,而其他六个表现出低到中等的电阻。其中,新郑(XZ)群体对阿维菌素的抗性增加了约40倍,对毒死蜱和吡虫啉有明显的交叉抗性。发现XZ的阿维菌素抗性是常染色体和不完全显性的。进行了代谢酶和协同作用试验,和两种代谢酶,谷胱甘肽S-转移酶和P450单加氧酶,被发现有利于XZ种群的田间开发的阿维菌素抗性。以上结果提供了有价值的信息,可用于确定新的害虫控制策略和延缓粉虱田间种群对阿维菌素的抗性演变。
    Abamectin, produced by the soil-dwelling actinomycete Streptomyces avermitilis, belongs to the macrocyclic lactones class of pesticides, has nematocidal, acaricidal, and insecticidal activity, and is highly effective when used against targeted species. Bemisia tabaci, the tobacco whitefly, is a highly destructive insect to agricultural production worldwide, and various insecticide-resistant strains have been identified in China. Here, we monitored levels of resistance to abamectin in twelve field-collected B. tabaci populations from northern China, and confirmed that, compared with the lab reference strain, six field populations exhibited strong abamectin resistance, while the other six exhibited low-to-medium resistance. Among these, the Xinzheng (XZ) population displayed about a 40-fold increased resistance to abamectin, and experienced significant cross-resistance to chlorpyrifos and imidacloprid. The abamectin resistance of XZ was found to be autosomal and incompletely dominant. Metabolic enzyme and synergism tests were conducted, and two metabolic enzymes, glutathione S-transferase and P450 monooxygenase, were found to be conducive to the field-developed abamectin resistance of the XZ population. The above results provide valuable information that can be used in identifying new pest control strategies and delaying the evolution of resistance to abamectin in field populations of whiteflies.
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