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Paradoxical sleep deprivation and restriction promote castration-like effects and local inflammatory responses in male gerbil prostate 反常的睡眠剥夺和限制会促进雄性沙鼠前列腺的阉割样效应和局部炎症反应
IF 2.9 4区 生物学 Q2 BIOLOGY Pub Date : 2024-07-26 DOI: 10.1007/s12038-024-00450-x
Ricardo A Fochi, Thalles F R Ruiz, Mariana M Jesus, Lucas R Azevedo, Luiz R Falleiros-Júnior, Silvana G P Campos, Rejane M Góes, Sonia M Oliani, Patricia S L Vilamaior, Sebastião R Taboga

Paradoxical sleep deprivation (PSD) presents different effects on metabolism and neurological functions. In addition, over long duration, sleep restriction (SR) can promote permanent changes. The prostate is an endocrine-dependent organ with homeostatic regulation directly related to hormone levels. Our study proposed to demonstrate the experimental prostatic effects of PSD (96 h), PSD with recovery (PSR – 96/96 h), and sleep restriction (SR – 30 PSD cycles/recovery). PSD and SR promoted decrease in serum testosterone and significant increase in serum and intraprostatic corticosterone. In agreement, androgen receptors (AR) were less expressed and glucocorticoid receptors (GR) were enhanced in PSR and SR. Thus, the prostate, especially under SR, demonstrates a castration-like effect due to loss of responsiveness and sensitization by androgens. SR triggered an important inflammatory response through enhancement of serum and intraprostatic pro- (IL-1α, IL-6, TNF-α) and anti-inflammatory (IL-10) cytokines. Furthermore, the respective receptors of anti-inflammatory cytokines (IL-1RI and TNF-R) were highly expressed in the prostatic epithelium and stroma. PSR can partially restore prostate homeostasis, as it restores testosterone and the prostate proliferation index, in addition to promoting balance in the inflammatory response that is considered protective. PSD and SR are key factors in the endocrine axis that coordinate prostatic homeostasis, and significant changes in these factors have consequences on prostate functionality.

Graphical abstract

矛盾性剥夺睡眠(PSD)会对新陈代谢和神经功能产生不同的影响。此外,长期限制睡眠(SR)会导致永久性变化。前列腺是一个依赖内分泌的器官,其平衡调节与激素水平直接相关。我们的研究拟证明 PSD(96 小时)、PSD 与恢复(PSR - 96/96 小时)和睡眠限制(SR - 30 PSD 周期/恢复)对前列腺的实验性影响。PSD 和 SR 会导致血清睾酮下降,血清和前列腺内皮质酮显著增加。同样,在 PSR 和 SR 中,雄激素受体(AR)表达较少,糖皮质激素受体(GR)表达增强。因此,前列腺,尤其是在 SR 条件下,由于对雄激素失去反应性和敏感性,表现出类似阉割的效应。SR通过增强血清和前列腺内促炎症(IL-1α、IL-6、TNF-α)和抗炎症(IL-10)细胞因子,引发了重要的炎症反应。此外,抗炎细胞因子的相应受体(IL-1RI 和 TNF-R)在前列腺上皮细胞和基质中高度表达。PSR 能部分恢复前列腺的平衡,因为它能恢复睾酮和前列腺增生指数,此外还能促进被认为具有保护作用的炎症反应的平衡。PSD和SR是协调前列腺稳态的内分泌轴的关键因素,这些因素的显著变化会对前列腺功能产生影响。
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引用次数: 0
Social learning and culture in bees: Simple mechanisms, complex outcomes 蜜蜂的社会学习和文化:简单的机制,复杂的结果
IF 2.9 4区 生物学 Q2 BIOLOGY Pub Date : 2024-07-23 DOI: 10.1007/s12038-024-00463-6
Vivek Nityananda

Bees have been excellent model systems to study social learning – the ability of animals to change their behaviour based on observations of other individuals. Researchers have investigated several aspects of social learning in bees, including how it can lead to cultural traditions. A recent study also argues that bees have the capacity to socially learn behaviours that they could not innovate on their own. To understand these findings better, I review what we know about the mechanisms underlying social learning in bees and use these findings to compare social learning and culture in bees and humans. The findings suggest that the seemingly complex social behaviours of bees could arise from simple mechanisms underlying learning in general. I highlight the importance of investigating cognitive mechanisms and how they might differ across animals.

蜜蜂是研究社会学习--动物根据对其他个体的观察而改变自身行为的能力--的绝佳模型系统。研究人员已经对蜜蜂社会学习的多个方面进行了研究,其中包括如何通过社会学习形成文化传统。最近的一项研究还认为,蜜蜂有能力通过社会学习自己无法创新的行为。为了更好地理解这些发现,我回顾了我们所知道的蜜蜂社会学习的基本机制,并利用这些发现来比较蜜蜂和人类的社会学习和文化。研究结果表明,蜜蜂看似复杂的社会行为可能源于一般学习的简单机制。我强调了研究认知机制的重要性,以及不同动物的认知机制可能存在的差异。
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引用次数: 0
Defining genomic landscape for identification of potential candidate resistance genes associated with major rice diseases through MetaQTL analysis 通过元 QTL 分析确定与水稻主要病害相关的潜在候选抗性基因的基因组图谱
IF 2.9 4区 生物学 Q2 BIOLOGY Pub Date : 2024-07-23 DOI: 10.1007/s12038-024-00460-9
Simran Goyal, Dinesh Kumar Saini, Pankaj Kumar, Gurwinder Kaur, Umesh Preethi Praba, Krishna Sai Karnatam, Gautam Chhabra, Rajveer Singh, Yogesh Vikal

Rice production is severely affected by various diseases such as bacterial leaf blight (BLB), brown spot (BS), false smut (FS), foot rot (FR), rice blast (RB), and sheath blight (SB). In recent years, several quantitative trait loci (QTLs) studies involving different populations have been carried out, resulting in the identification of hundreds of resistance QTLs for each disease. These QTLs can be integrated and analyzed using meta-QTL (MQTL) analysis for better understanding of the genetic architecture underlying multiple disease resistance (MDR). This study involved an MQTL analysis on 661 QTLs (378, 161, 21, 41, 44, and 16 QTLs for SB, RB, BLB, BS, FS, and FR, respectively) retrieved from 50 individual studies published from 1995 to 2021. Of these, 503 QTLs were projected finally onto the consensus map saturated with 6,275 markers, resulting in 73 MQTLs, including 27 MDR-MQTLs conferring resistance to three or more diseases. Forty-seven MQTLs were validated using marker-trait associations identified in published genome-wide association studies. A total of 3,310 genes, including both R and defense genes, were also identified within some selected high-confidence MQTL regions that were investigated further for the syntenic relationship with barley, wheat, and maize genomes. Thirty-nine high-confidence candidate genes were selected based on their expression patterns and recommended for future studies involving functional validation, genetic engineering, and gene editing. Nineteen MQTLs were co-localized with 39 known R genes for BLB and RB diseases. These results could pave the way to utilize candidate genes in a marker-assisted breeding program for MDR in rice.

水稻生产受到多种病害的严重影响,如细菌性叶枯病(BLB)、褐斑病(BS)、假烟病(FS)、稻曲病(FR)、稻瘟病(RB)和鞘枯病(SB)。近年来,对不同群体进行了多项定量性状位点(QTLs)研究,为每种病害鉴定了数百个抗性 QTLs。利用元 QTL(MQTL)分析法可对这些 QTL 进行整合和分析,从而更好地了解多重抗病性(MDR)的遗传结构。本研究对从 1995 年至 2021 年发表的 50 项单独研究中检索到的 661 个 QTL(分别为 SB、RB、BLB、BS、FS 和 FR 的 378、161、21、41、44 和 16 个 QTL)进行了 MQTL 分析。其中,503 个 QTL 最终被投射到饱和了 6275 个标记的共识图谱上,产生了 73 个 MQTL,包括 27 个对三种或三种以上疾病具有抗性的 MDR-MQTL。利用已发表的全基因组关联研究中确定的标记-性状关联对 47 个 MQTL 进行了验证。在一些选定的高置信度 MQTL 区域内还发现了共计 3,310 个基因,包括抗病基因和防御基因,并进一步研究了这些基因与大麦、小麦和玉米基因组的同源关系。根据其表达模式,选出了 39 个高置信度候选基因,并建议今后进行功能验证、基因工程和基因编辑等方面的研究。19个MQTL与39个已知的BLB和RB疾病R基因共定位。这些结果可为在水稻 MDR 的标记辅助育种计划中利用候选基因铺平道路。
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引用次数: 0
Trehalase inhibition in Helicoverpa armigera activates machinery for alternate energy acquisition 抑制 Helicoverpa armigera 中的 Trehalase 可激活替代能量获取机制
IF 2.9 4区 生物学 Q2 BIOLOGY Pub Date : 2024-07-18 DOI: 10.1007/s12038-024-00453-8
Meenakshi Tellis, Sharada Mohite, Rakesh Joshi

Trehalose serves as a primary circulatory sugar in insects which is crucial in energy metabolism and stress recovery. It is hydrolyzed into two glucose molecules by trehalase. Silencing or inhibiting trehalase results in reduced fitness, developmental defects, and insect mortality. Despite its importance, the molecular response of insects to trehalase inhibition is not known. Here, we performed transcriptomic analyses of Helicoverpa armigera treated with validamycin A (VA), a trehalase inhibitor. VA ingestion resulted in increased mortality, developmental delay, and reduced ex vivo trehalase activity. Pathway enrichment and gene ontology analyses suggest that key genes involved in carbohydrate, protein, fatty acid, and mitochondria-related metabolisms are deregulated. The activation of protein and fat degradation may be necessary to fulfil energy requirements, evidenced by the dysregulated expression of critical genes in these metabolisms. Co-expression analysis supports the notion that trehalase inhibition leads to putative interaction with key regulators of other pathways. Metabolomics correlates with transcriptomics to show reduced levels of key energy metabolites. VA generates an energy-deficient condition, and insects activate alternate pathways to facilitate the energy demand. Overall, this study provides insights into the molecular mechanisms underlying the response of insects to trehalase inhibition and highlights potential targets for insect control.

曲哈糖是昆虫体内的主要循环糖,对能量代谢和应激恢复至关重要。它通过曲哈糖酶水解成两个葡萄糖分子。沉默或抑制三卤糖酶会导致昆虫体能下降、发育缺陷和死亡。尽管trehalase很重要,但昆虫对trehalase抑制的分子反应还不清楚。在这里,我们对用三卤酶抑制剂有效霉素 A(VA)处理的 Helicoverpa armigera 进行了转录组分析。摄入 VA 会导致死亡率上升、发育迟缓以及体内外三卤酶活性降低。通路富集和基因本体分析表明,参与碳水化合物、蛋白质、脂肪酸和线粒体相关代谢的关键基因发生了失调。激活蛋白质和脂肪降解可能是满足能量需求的必要条件,这些代谢过程中关键基因的表达失调就是证明。共表达分析支持这样一种观点,即三卤素酶抑制会导致与其他通路的关键调控因子发生假定的相互作用。代谢组学与转录组学相互关联,显示出关键能量代谢产物水平的降低。VA 会产生能量不足的情况,昆虫会激活其他途径来满足能量需求。总之,这项研究深入揭示了昆虫对曲卤酶抑制反应的分子机制,并突出了昆虫控制的潜在目标。
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引用次数: 0
Goat weed (Ageratum conyzoides L.): A biological threat to plant diversity in Eastern Ghats of India 山羊草(Ageratum conyzoides L.):对印度东高止山植物多样性的生物威胁
IF 2.9 4区 生物学 Q2 BIOLOGY Pub Date : 2024-07-10 DOI: 10.1007/s12038-024-00455-6
Prakash Paraseth, Kakoli Banerjee

The Kunming–Montreal Global Biodiversity Framework (GBF) is a recently signed protocol by the conference of the parties (COP 15) with an aim to protect biodiversity from risks imposed by biological threats such as invasive alien species (IAS). The present work is an effort to meet target 6 of GBF which directly deals with IAS by assessing the current and future distribution of Ageratum species in regions of the Eastern Ghats of India. Prediction of Ageratum distribution was done based on greenhouse gas emission levels, namely RCP 4.5, 6.0 and 8.5 for the climatic years 2030, 2050 and 2080. Of a total of 23 environmental parameters (19 bioclimatic, 1 land use land cover (LULC) and 3 topographic) seven were selected for species distribution modeling (SDM) considering value inflation factor (VIF) scores <3 by using maximum entropy. In the current climatic scenario, 40.09% of the geographical area (TGA) is covered by Ageratum species which will reach 76.51%, 77.44%, 82.58% for RCP 4.5, 6.0 and 8.5 respectively by the end of 2100. Both the AUC value (0.884) and Jackknife test have shown a good model performance. The Eastern Ghats, being a biodiversity-rich zone, needs efficient conservation and management strategies to decrease the extent of invaded areas to maximize biodiversity returns.

昆明-蒙特利尔全球生物多样性框架(GBF)是缔约方大会(COP 15)最近签署的一项议定书,旨在保护生物多样性免受外来入侵物种(IAS)等生物威胁带来的风险。本研究通过评估印度东高止山脉地区龙舌兰物种目前和未来的分布情况,努力实现《生物多样性框架》中直接涉及外来入侵物种的目标 6。根据 2030、2050 和 2080 气候年的温室气体排放水平,即 RCP 4.5、6.0 和 8.5,对龙舌兰的分布进行了预测。在总共 23 个环境参数(19 个生物气候参数、1 个土地利用土地覆被参数(LULC)和 3 个地形参数)中,考虑到价值膨胀因子(VIF)分数 <3,使用最大熵法选择了 7 个参数进行物种分布建模(SDM)。在当前气候情景下,40.09%的地理区域(TGA)被龙舌兰物种覆盖,到 2100 年底,在 RCP 4.5、6.0 和 8.5 条件下,这一比例将分别达到 76.51%、77.44% 和 82.58%。AUC值(0.884)和积刀检验都显示了模型的良好性能。东高止山脉是生物多样性丰富的地区,需要有效的保护和管理策略来减少入侵区域的范围,从而最大限度地提高生物多样性回报。
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引用次数: 0
Nitric oxide brings innate immune resistance to M. tuberculosis infection among high-risk household contacts of pulmonary tuberculosis patients 一氧化氮使肺结核患者的高危家庭接触者对结核杆菌感染产生先天免疫抵抗力
IF 2.9 4区 生物学 Q2 BIOLOGY Pub Date : 2024-07-10 DOI: 10.1007/s12038-024-00459-2
Sudhasini Panda, Ambrish Tiwari, Kalpana Luthra, Kuldeep Kumar, Archana Singh

Nitric oxide (NO) and iNOS are crucial host factors in innate immunity against intracellular pathogens. However, the role of NO in Mycobacterium tuberculosis (M. tb) infection in humans remains controversial, unlike in the murine model of TB. To investigate this, levels of NO, iNOS, and L-arginine, as well as the NOS2A gene polymorphism rs57234985 at the promoter region of NOS2A, were evaluated in pulmonary TB (PTB) patients and their household contacts (HHCs). Increased levels of NO and iNOS expression in HHCs indicated exposure to M. tb infection which was confirmed by higher levels of iNOS and NO in Mantoux-positive individuals. Furthermore, higher levels of arginine were detected in HHCs, suggesting its potential role in promoting optimal NO synthesis. PTB patients had higher levels of these analytes due to ongoing active infection. Interestingly, iNOS and NO levels were inversely related to bacterial burden, suggesting their antimicrobial role. NOS2A gene polymorphism was found to be associated with disease susceptibility, with the TT genotype linked to increased iNOS expression. To conclude, iNOS plays a crucial role in controlling early M. tb infection in HHCs by inducing optimal NO production with help of L-arginine. Further longitudinal studies are needed to better understand the role of these host factors upon disease activation.

一氧化氮(NO)和 iNOS 是先天性免疫中抵抗细胞内病原体的关键宿主因子。然而,与小鼠结核病模型不同,一氧化氮在人类结核分枝杆菌(M. tb)感染中的作用仍存在争议。为了研究这个问题,我们对肺结核(PTB)患者及其家庭接触者(HHCs)体内的 NO、iNOS 和 L-精氨酸水平以及 NOS2A 启动子区的 NOS2A 基因多态性 rs57234985 进行了评估。HHCs 中 NO 和 iNOS 表达水平的升高表明他们受到了结核杆菌的感染,而 Mantoux 阳性者体内较高水平的 iNOS 和 NO 也证实了这一点。此外,在 HHCs 中还检测到了较高水平的精氨酸,这表明精氨酸在促进最佳 NO 合成方面具有潜在作用。由于持续的活动性感染,肺结核患者体内这些分析物的水平更高。有趣的是,iNOS 和 NO 的水平与细菌负荷成反比,这表明它们具有抗菌作用。研究发现,NOS2A 基因多态性与疾病易感性有关,TT 基因型与 iNOS 表达增加有关。总之,iNOS 在 L-精氨酸的帮助下诱导产生最佳的 NO,从而在控制 HHC 早期 M. tb 感染方面发挥了关键作用。要更好地了解这些宿主因素在疾病激活时的作用,还需要进一步的纵向研究。
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引用次数: 0
Cell membrane proteome analysis in HEK293T cells challenged with α-synuclein amyloids 用α-突触核蛋白淀粉样蛋白挑战 HEK293T 细胞的细胞膜蛋白质组分析
IF 2.9 4区 生物学 Q2 BIOLOGY Pub Date : 2024-07-05 DOI: 10.1007/s12038-024-00457-4
Harshit Vaish, Shemin Mansuri, Aanchal Jain, Swasti Raychaudhuri

Amyloids interact with plasma membranes. Extracellular amyloids cross the plasma membrane barrier. Internalized extracellular amyloids are reported to trigger amyloidogenesis of endogenous proteins in recipient cells. To what extent these extracellular and intracellular amyloids perturb the plasma membrane proteome is not investigated. Using α-synuclein as a model amyloid protein, we performed membrane shaving followed by mass spectrometry experiments to identify the conformational changes in cell surface proteins after extracellular amyloid challenge. We also performed membrane proteomics after the biogenesis of intracellular α-synuclein amyloids. Our results suggest that promiscuous interactions with extracellular amyloids stochastically alter the conformation of plasma membrane proteins. This affects the biological processes through the plasma membrane and results in loss of cell viability. Cells that survive the extracellular amyloid shock can grow normally and gradually develop intracellular amyloids which do not directly impact the plasma membrane proteome and associated biological processes. Thus, our results suggest that α-synuclein amyloids can damage the plasma membrane and related processes during cell-to-cell transfer and not during their intracellular biogenesis.

淀粉样蛋白与质膜相互作用。细胞外的淀粉样蛋白可穿过质膜屏障。据报道,内化的细胞外淀粉样蛋白会引发受体细胞中内源性蛋白质的淀粉样蛋白生成。至于这些细胞外和细胞内的淀粉样蛋白在多大程度上扰乱了质膜蛋白质组,目前尚无研究。我们以α-突触核蛋白为淀粉样蛋白模型,进行了膜切片和质谱分析实验,以确定细胞外淀粉样蛋白挑战后细胞表面蛋白的构象变化。我们还在细胞内α-突触核蛋白淀粉样蛋白生物生成后进行了膜蛋白质组学研究。我们的研究结果表明,与细胞外淀粉样蛋白的杂乱相互作用会随机改变质膜蛋白的构象。这影响了通过质膜的生物过程,导致细胞失去活力。在细胞外淀粉样蛋白冲击中存活下来的细胞可以正常生长,并逐渐形成细胞内淀粉样蛋白,而细胞内淀粉样蛋白不会直接影响质膜蛋白质组和相关的生物过程。因此,我们的研究结果表明,α-突触核蛋白淀粉样蛋白在细胞间转移过程中会损害质膜和相关过程,而不是在细胞内生物生成过程中。
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引用次数: 0
Neural pathways that compel us to scratch an itch 迫使我们抓痒的神经通路
IF 2.9 4区 生物学 Q2 BIOLOGY Pub Date : 2024-07-05 DOI: 10.1007/s12038-024-00452-9
Jagat Narayan Prajapati, Prannay Reddy, Arnab Barik

Itch is a unique sensory experience that is responded to by scratching. How pruritogens, which are mechanical and chemical stimuli with the potential to cause itch, engage specific pathways in the peripheral and central nervous system has been a topic of intense investigation over the last few years. Studies employing recently developed molecular, physiological, and behavioral techniques have delineated the dedicated mechanisms that transmit itch information to the brain. This review outlines the genetically defined and evolutionary conserved circuits for itch ranging from the skin-innervating peripheral neurons to the cortical neurons that drive scratching. Moreover, scratch suppression of itch is attributed to the concurrent activation of pain and itch pathways. Hence, we discuss the similarities between circuits driving pain and itch.

痒是一种独特的感官体验,通过搔抓产生反应。在过去几年中,瘙痒诱导剂(可能引起瘙痒的机械和化学刺激)如何与外周和中枢神经系统中的特定通路发生作用一直是研究的热点。利用最新开发的分子、生理和行为技术进行的研究已经勾勒出将痒信息传递到大脑的专用机制。这篇综述概述了从皮肤支配的外周神经元到驱动搔痒的皮层神经元的基因定义和进化保守的痒回路。此外,划痕抑制瘙痒是由于同时激活了疼痛和瘙痒通路。因此,我们讨论了驱动疼痛和痒的回路之间的相似性。
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引用次数: 0
Comparative assessment of two in-house-built isothermal assays for visual detection of African swine fever virus 用于目测检测非洲猪瘟病毒的两种内部自制等温测定法的比较评估
IF 2.9 4区 生物学 Q2 BIOLOGY Pub Date : 2024-06-28 DOI: 10.1007/s12038-024-00451-w
Gyanendra Singh Sengar, Soumendu Chakravarti, Rajib Deb, Seema Rani Pegu, Pranav Anjaria, Joyshikh Sonowal, Swaraj Rajkhowa, Pranab Joyti Das, Vivek Kumar Gupta

Owing to the lack of effective vaccines, current control measures and eradication strategies for the African swine fever virus (ASFV) rely on early detection and stringent stamping-out procedures. In the present study, we developed two independent isothermal amplification assays, namely, loop-mediated isothermal amplification (LAMP) and polymerase spiral reaction (PSR), for quick visualization of the ASFV genome in clinical samples. Additionally, a quantitative real-time PCR (qRT-PCR)-based hydrolysis probe assay was developed for comparative assessment of sensitivity with the developed isothermal assays. The analytical sensitivity of the LAMP, PSR, and qRT-PCR was found to be 2.64 ×105 copies/µL, 2.64 ×102 copies/µL, and 2.64 ×101 copies/µL, respectively. A total of 165 clinical samples was tested using the developed visual assays. The relative accuracy, relative specificity, and relative diagnostic sensitivity for LAMP vs PSR were found to be 95.37% vs 102.48%, 97.46% vs 101.36%, and 73.33% vs 113.33%, respectively.

由于缺乏有效的疫苗,目前非洲猪瘟病毒(ASFV)的控制措施和根除策略依赖于早期检测和严格的淘汰程序。在本研究中,我们开发了两种独立的等温扩增检测方法,即环路介导等温扩增(LAMP)和聚合酶螺旋反应(PSR),用于快速检测临床样本中的非洲猪瘟病毒基因组。此外,还开发了一种基于水解探针的定量实时 PCR(qRT-PCR)检测方法,用于与所开发的等温检测方法进行灵敏度比较评估。结果发现,LAMP、PSR 和 qRT-PCR 的分析灵敏度分别为 2.64 ×105 拷贝/微升、2.64 ×102 拷贝/微升和 2.64 ×101 拷贝/微升。使用所开发的可视化检测方法共检测了 165 份临床样本。结果发现,LAMP 与 PSR 的相对准确性、相对特异性和相对诊断灵敏度分别为 95.37% vs 102.48%、97.46% vs 101.36% 和 73.33% vs 113.33%。
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引用次数: 0
Unraveling the propensity of various genetic disorders and syndromes in the Koraga, an aboriginal tribe from southern India 揭示印度南部土著部落 Koraga 中各种遗传疾病和综合征的倾向
IF 2.9 4区 生物学 Q2 BIOLOGY Pub Date : 2024-06-22 DOI: 10.1007/s12038-024-00458-3
Swathy M Krishna, Suneetha M Prabhu, Ranajit Das

Koragas, recognized as a particularly vulnerable tribal group (PVTG) by the Government of India, are from coastal Karnataka and Kerala. They are experiencing severe socioeconomic and health-related issues and rapid depopulation. The unique genetic makeup of Koragas has been maintained by the practice of endogamy. We aimed to identify genetic factors potentially associated with the predisposition of Koragas towards genetic and multifactorial disorders. We employed genome-wise data of 29 Koraga individuals genotyped on the Infinium Global Screening Array-24 v3.0 BeadChip platform and performed various population genetic analyses including kinship, identity by descent (IBD), and runs of homozygosity (RoH). A high degree of haplotype sharing among the Koraga participants may be indicative of a recent founder event. We identified genetic variants and genes associated with several genetic disorders, higher infant mortality rate, neurological disorders, deafness, and lower fertility rate of this agrarian tribe. Ours is the first genome-wide study on the Koraga tribe that identified genetic factors associated with various genetic disorders. Our findings can provide public healthcare providers with essential genetic information that can be useful in augmenting medical and healthcare services and improving the quality of life of Koragas.

科拉加人是印度政府认定的特别弱势部落群体(PVTG),来自卡纳塔克邦和喀拉拉邦沿海地区。他们正经历着严重的社会经济和健康问题,人口迅速减少。科拉加人独特的遗传构成一直由内婚习俗维持。我们的目的是找出可能与科拉加人易患遗传性和多因素疾病有关的遗传因素。我们利用在 Infinium Global Screening Array-24 v3.0 BeadChip 平台上对 29 个 Koraga 人进行基因分型的基因组数据,并进行了各种群体遗传分析,包括亲缘关系、世系认同(IBD)和同源性分析(RoH)。Koraga 参与者之间的单倍型共享程度很高,这可能表明最近发生过创始者事件。我们发现了与该农业部落的几种遗传疾病、较高的婴儿死亡率、神经系统疾病、耳聋和较低的生育率相关的基因变异和基因。我们的研究是首次对科拉加部落进行全基因组研究,确定了与各种遗传疾病相关的遗传因素。我们的研究结果可为公共医疗服务提供者提供重要的遗传信息,有助于加强医疗和保健服务,提高科拉加人的生活质量。
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引用次数: 0
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