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Genetic diversity and population structure of sour passion fruit in Brazil 巴西酸百香果的遗传多样性和种群结构
IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2025-11-03 DOI: 10.1016/j.jgeb.2025.100607
Carolina Sampaio Araponga, Gonçalo Santos Silva, Cláusio Antônio Ferreira de Melo, Margarete Magalhães Souza
Sour passion fruit (Passiflora edulis) is the most economically important species in the genus Passiflora, mainly due to its edible fruit. Genetic diversity and population structure were analyzed in five P. edulis populations, each comprising 25 individuals, using 28 ISSR molecular markers. The markers exhibited high efficiency and informativeness, with an effective multiplex ratio of 13.99 and a marker index of 3.39. Germplasm included three commercial cultivars (BRS-RC Rubi do Cerrado, FB300-Araguari, and IAC-273/277) and two populations collected from production areas (Bahia and Rio de Janeiro, Brazil). Cluster and Bayesian structure analyses revealed clear genetic differentiation, dividing the accessions into five distinct groups corresponding to their populations of origin. The expected heterozygosity (He) and Shannon’s information index (I) varied from He = 0.166 and I = 0.249 to He = 0.203 and I = 0.308. Overall genetic parameters confirmed this structure, with high coefficient of genetic differentiation (0.421) and limited gene flow (0.343 migrants per generation), indicating that 42.1 % of the total genetic variation resides among populations. This finding was consistent with the analysis of molecular variance, which accounted for 45 % of the variation among populations and 55 % within them. Principal coordinates analysis revealed five distinct groups, and the first two principal coordinates analysis axes accounted for 36.8 % of the variation. This study revealed significant genetic diversity and a strong population structure within the analyzed germplasm. These findings highlight its potential as a valuable genetic resource for future Passiflora breeding programs, especially for traits related to fruit quality and adaptation to diverse environmental conditions.
酸西番莲(Passiflora edulis)是西番莲属植物中最重要的经济品种,主要是由于其可食用的果实。利用28个ISSR分子标记对5个毛竹居群的遗传多样性和群体结构进行了分析。标记具有较高的效率和信息量,有效多重倍率为13.99,标记指数为3.39。种质包括3个商业品种(BRS-RC Rubi do Cerrado、FB300-Araguari和IAC-273/277)和2个产区群体(巴西巴伊亚州和巴西里约热内卢)。聚类和贝叶斯结构分析显示了明显的遗传分化,将材料根据其起源群体划分为5个不同的群体。期望杂合度(He)和香农信息指数(I)从He = 0.166和I = 0.249到He = 0.203和I = 0.308不等。总体遗传参数证实了这一结构,遗传分化系数高(0.421),基因流动有限(每代0.343次迁移),表明总遗传变异的42.1%存在于群体之间。这一发现与分子变异分析相一致,分子变异占种群间变异的45%,占种群内变异的55%。主坐标分析显示出5个不同的类群,前两个主坐标分析轴占变异量的36.8%。结果表明,该种质具有显著的遗传多样性和较强的群体结构。这些发现突出了它作为未来西番莲育种计划的宝贵遗传资源的潜力,特别是与果实品质和适应不同环境条件有关的性状。
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引用次数: 0
PABPC1 expression in papillary renal cell carcinoma and its significance for survival outcomes PABPC1在乳头状肾细胞癌中的表达及其对生存结局的意义
IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2025-10-31 DOI: 10.1016/j.jgeb.2025.100597
Cheng Huang , Aichun Long , Tianyun Li , Yuwei Shi , Hongfang Li , Cuiwei Zhang

Objective

This study examines the expression pattern and prognostic relevance of PABPC1 in papillary renal cell carcinoma (pRCC) to evaluate its potential as a clinical outcome biomarker.

Methods

In papillary renal cell carcinoma (pRCC), mRNA expression levels of PABPC1 were analyzed by comparing tumor (n = 290)and normal tissues (n = 32)using the GSCALite and UALCAN databases. Immune checkpoint expression in KIRP was evaluated with TCGA transcriptomic data.Survival analyses via GSCALite assessed the relationship between PABPC1 expression levels (144 high,145 low) and patient outcomes.Correlations between PABPC1 and clinical/pathological stages were examined for prognostic value.Validation involved HE and IHC staining on 7 clinical samples, with quantitative assessment of PABPC1 protein expression in papillary renal cell carcinoma (pRCC) tissues.

Results

An upsurge in PABPC1 was detected in papillary renal cell carcinoma (pRCC) during the study.There is a significant association between high PABPC1 expression in patients and reduced overall survival (OS), progression-free survival (PFS), disease-specific survival (DSS), and disease-free interval (DFI) compared to low expression,with Log-rank P-values of 4.1e-05, 3.2e-06, 2.4e-07, and 0.00027, respectively, suggesting a poorer prognosis for KIRP patients.Moreover, the mRNA expression level of PABPC1 gradually increased with the progression of clinical and pathological stages.PD1/PDL1 inhibitors could enhance the prognosis of papillary renal cell carcinoma.

Conclusions

PABPC1 could serve as a potential prognostic biomarker for individuals with KIRP.
目的研究PABPC1在乳头状肾细胞癌(pRCC)中的表达模式及其与预后的相关性,以评估其作为临床预后生物标志物的潜力。方法采用GSCALite和UALCAN数据库,比较290例乳头状肾细胞癌(pRCC)和32例正常肾细胞癌组织中PABPC1 mRNA的表达水平。利用TCGA转录组学数据评估KIRP免疫检查点的表达。通过GSCALite进行的生存分析评估了PABPC1表达水平(144高,145低)与患者预后之间的关系。研究了PABPC1与临床/病理分期的相关性,以评估预后价值。7例临床样本的HE和IHC染色验证,定量评估乳头状肾细胞癌(pRCC)组织中PABPC1蛋白的表达。结果在乳头状肾细胞癌(pRCC)中检测到PABPC1表达升高。与低表达相比,患者高表达PABPC1与总生存期(OS)、无进展生存期(PFS)、疾病特异性生存期(DSS)和无病间期(DFI)显著相关,Log-rank p值分别为4.1e-05、3.2e-06、2.4e-07和0.00027,提示KIRP患者预后较差。随着临床和病理分期的进展,PABPC1 mRNA表达水平逐渐升高。PD1/PDL1抑制剂可改善乳头状肾细胞癌的预后。结论spabpc1可作为KIRP患者的潜在预后生物标志物。
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引用次数: 0
Global research trends and therapeutic potential of fibrinolytic enzymes 纤维蛋白溶解酶的全球研究趋势和治疗潜力
IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2025-10-30 DOI: 10.1016/j.jgeb.2025.100606
Chinmay Hazare, Prashant Bhagwat, Suren Singh, Santhosh Pillai
Fibrinolytic enzymes are proteolytic enzymes that degrade fibrin clots. They play a significant role in managing thrombosis as they are crucial for the lysis of the clot. Despite the importance and extensive research on fibrinolytic enzymes, many have not been translated into therapeutics due to challenges such as immunogenicity, bleeding risks, and short half-life. Consequently, in this review, a comprehensive assessment was conducted to identify trends and gaps in fibrinolytic enzyme research, analyzing data spanning eight decades alongside important biotechnological discoveries, such as recombinant DNA technology and tissue plasminogen activators, to gain an in-depth understanding of this evolving research area. The field’s multidisciplinary nature encompasses medicine, biochemistry, genetics, molecular biology, and other related disciplines, thus highlighting its industrial potential. An international collaborative network involving 35 countries was identified, highlighting the need to diversify the collaborations to advance research on fibrinolytic enzymes. At the institutional level, South Korea leads in publications, whereas research in India and Japan is more decentralized. Keyword co-occurrence analysis identified thematic clusters and journals such as Thrombosis Research and the Journal of Microbiology and Biotechnology as the prominent publishers. Patent analysis points to Cordis Corporation and Bristol-Myers Squibb as key players. This comprehensive analysis provides insights into past and current trends, highlights gaps in fibrinolytic enzyme research, and sets the stage for future advancements in this field.
纤溶酶是降解纤维蛋白凝块的蛋白水解酶。它们在治疗血栓形成中起着重要的作用,因为它们对血栓的溶解至关重要。尽管纤溶酶的重要性和广泛的研究,但由于免疫原性、出血风险和半衰期短等挑战,许多酶尚未转化为治疗药物。因此,在这篇综述中,进行了全面的评估,以确定纤溶酶研究的趋势和差距,分析了80年来重要生物技术发现的数据,如重组DNA技术和组织纤溶酶原激活剂,以深入了解这一不断发展的研究领域。该领域的多学科性质包括医学、生物化学、遗传学、分子生物学和其他相关学科,因此突出了其工业潜力。确定了一个涉及35个国家的国际合作网络,强调需要使合作多样化,以推进纤维蛋白溶解酶的研究。在机构层面,韩国在出版物方面领先,而印度和日本的研究则更加分散。关键词共现分析发现专题集群和《Thrombosis Research》、《Journal of Microbiology and Biotechnology》等期刊是突出的出版商。专利分析指出,康迪斯公司和百时美施贵宝是关键参与者。这一全面的分析提供了对过去和当前趋势的见解,突出了纤溶酶研究的差距,并为该领域的未来发展奠定了基础。
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引用次数: 0
Detection method for CRISPR-Cas9 edited tomato with single nucleotide deletion using multiplex probe-based real-time PCR and confirmation of non-transgenicity: A case study 基于多重探针的实时PCR检测CRISPR-Cas9编辑番茄单核苷酸缺失及其非转基因性的方法:一个案例研究
IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2025-10-29 DOI: 10.1016/j.jgeb.2025.100609
Monika Singh, Shiwani, Raghavendra Aminedi, Kushaldeep Kaur
The adoption of gene-edited (GE) food crops has increased due to applicability of technology without drastically affecting the genetic information. However, the discussion on regulatory regime pertaining to GE plants throughout the globe is overwhelming. In the countries where GE products are regulated, or for the verification of gene-editing as claimed by the developers, detection of GE plants (referred to as GE detection here) plays an imperative role. Precisely detecting small modifications in single or few nucleotide(s) is a challenge. An efficient detection method was developed for GE tomato line with a single base pair edit as deletion in Solanum lycopersicum pectate lyase (SlPL) gene for better shelf life. A stepwise strategy is reported herein, comprising of screening at early phase targeting Cas9 protein gene using rapid loop-mediated isothermal amplification (LAMP) and conventional polymerase chain reaction (PCR) assays, followed by the verification of single point mutation using real-time PCR. Multiplex TaqMan® real-time PCR using fluorescent labelled dual probes simultaneously targeting edited and unedited sequences, was used for verification of single point deletion. This method was based on the negative selection where the presence of a mutation was determined by absence of signal in comparison to the wild-type. The developed multiplex real-time PCR method was found sensitive enough to detect 0.1% of the targeted lines. In view of the regulation of GM tomato in several countries, the approach for confirming non-transgenic nature of edited line was also presented using real-time PCR targeting common screening elements present in globally approved GM tomato events. This approach could be utilized as a tool globally either to support the regulatory authorities for food traceability or to verify the editing as well as to track suspected transgenic element in SDN-1 and SDN-2 types.
基因编辑(GE)粮食作物的采用由于技术的适用性而不会严重影响遗传信息而增加。然而,关于全球范围内与转基因植物有关的监管制度的讨论是压倒性的。在转基因产品受到监管的国家,或者为了验证开发者声称的基因编辑,对转基因植物的检测(这里简称为GE检测)起着至关重要的作用。精确地检测单个或几个核苷酸的小修饰是一个挑战。建立了转基因番茄果胶裂解酶(SlPL)基因单碱基对编辑缺失的高效检测方法。本文报道了一种循序渐进的策略,包括使用快速环介导等温扩增(LAMP)和传统聚合酶链反应(PCR)检测在早期筛选靶向Cas9蛋白基因,然后使用实时PCR验证单点突变。多重TaqMan®实时PCR使用荧光标记双探针同时靶向编辑和未编辑的序列,用于验证单点缺失。该方法是基于负选择,其中通过与野生型相比缺乏信号来确定突变的存在。发现所开发的多重实时PCR方法灵敏度足以检测0.1%的目标系。鉴于一些国家对转基因番茄的监管,本文还提出了利用实时荧光定量PCR技术,针对全球批准的转基因番茄事件中常见的筛选元件,确定编辑系非转基因性质的方法。这种方法可以作为一种工具在全球范围内用于支持食品可追溯性的监管部门或验证编辑以及跟踪SDN-1和SDN-2类型中的可疑转基因元素。
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引用次数: 0
The effects of gut microbiota-derived short-chain fatty acids (SCFAs) on human colon cancer cells: An in vitro study 肠道微生物来源的短链脂肪酸(SCFAs)对人结肠癌细胞的影响:一项体外研究
IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2025-10-29 DOI: 10.1016/j.jgeb.2025.100610
Shiva Darabi , Fatemeh Keshavarzi , Parviz Ashtari , Farahnaz Motamedi Sedeh , Behrouz Alirezapour
Colorectal cancer (CRC) has always been a major concern for researchers due to its deadly nature. One of the microbial metabolites found in the gut is short-chain fatty acids (SCFAs), which have the ability to regulate the immune system and exert protective effects against CRC. In this study, we investigated the effects of SCFAs on the expression of the CYP1A1 gene in Caco-2 cells at varying concentrations. The Caco-2 cell line and HDF control cell line were treated with three concentrations (7.5, 15, and 30 mM) of NaA(sodium acetate), NaB(sodium butyrate), and NaP(sodium propionate) for three different time periods (24, 48, and 72 h). Additionally, two concentrations (2.5 and 10 μM) of CH223191 (an AhR gene antagonist) alone and a concentration of 10 μM of CH223191 in combination with the mentioned concentrations of NaA, NaB and NaP were applied to the cells for 48 h. The gene expression of CYP1A1 was examined using Real-time PCR. The expression of the CYP1A1 gene increased with concentrations of NaA and NaB at all time points, and with 30 mM of NaP at 24 h (p < 0.05). However, increasing the concentration of NaB and NaP led to decreased expression of the CYP1A1 gene. These findings suggest the potential use of SCFAs as epigenetic drugs for the prevention and treatment of CRC.
结直肠癌(CRC)由于其致命的性质一直是研究人员关注的主要问题。在肠道中发现的微生物代谢物之一是短链脂肪酸(SCFAs),它具有调节免疫系统并对结直肠癌发挥保护作用的能力。在这项研究中,我们研究了不同浓度的SCFAs对Caco-2细胞中CYP1A1基因表达的影响。Caco-2细胞系和HDF对照细胞系分别用3种浓度(7.5、15和30 mM)的NaA(乙酸钠)、NaB(丁酸钠)和NaP(丙酸钠)处理3个不同的时间段(24、48和72 h)。分别用2.5 μM和10 μM浓度的CH223191 (AhR基因拮抗剂)和10 μM浓度的CH223191与NaA、NaB和NaP联合作用于细胞48 h,采用Real-time PCR检测CYP1A1基因的表达情况。CYP1A1基因的表达随NaA和NaB浓度在各时间点及30mm NaP在24 h时的升高而升高(p < 0.05)。然而,NaB和NaP浓度的增加导致CYP1A1基因的表达降低。这些发现提示SCFAs作为表观遗传药物用于预防和治疗结直肠癌的潜在应用。
{"title":"The effects of gut microbiota-derived short-chain fatty acids (SCFAs) on human colon cancer cells: An in vitro study","authors":"Shiva Darabi ,&nbsp;Fatemeh Keshavarzi ,&nbsp;Parviz Ashtari ,&nbsp;Farahnaz Motamedi Sedeh ,&nbsp;Behrouz Alirezapour","doi":"10.1016/j.jgeb.2025.100610","DOIUrl":"10.1016/j.jgeb.2025.100610","url":null,"abstract":"<div><div>Colorectal cancer (CRC) has always been a major concern for researchers due to its deadly nature. One of the microbial metabolites found in the gut is short-chain fatty acids (SCFAs), which have the ability to regulate the immune system and exert protective effects against CRC. In this study, we investigated the effects of SCFAs on the expression of the <em>CYP1A1</em> gene in Caco-2 cells at varying concentrations. The Caco-2 cell line and HDF control cell line were treated with three concentrations (7.5, 15, and 30 mM) of NaA(sodium acetate), NaB(sodium butyrate), and NaP(sodium propionate) for three different time periods (24, 48, and 72 h). Additionally, two concentrations (2.5 and 10 μM) of CH223191 (an AhR gene antagonist) alone and a concentration of 10 μM of CH223191 in combination with the mentioned concentrations of NaA, NaB and NaP were applied to the cells for 48 h. The gene expression of <em>CYP1A1</em> was examined using Real-time PCR. The expression of the <em>CYP1A1</em> gene increased with concentrations of NaA and NaB at all time points, and with 30 mM of NaP at 24 h (p &lt; 0.05). However, increasing the concentration of NaB and NaP led to decreased expression of the <em>CYP1A1</em> gene. These findings suggest the potential use of SCFAs as epigenetic drugs for the prevention and treatment of CRC.</div></div>","PeriodicalId":53463,"journal":{"name":"Journal of Genetic Engineering and Biotechnology","volume":"23 4","pages":"Article 100610"},"PeriodicalIF":2.8,"publicationDate":"2025-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145424546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Molecular Detection of natural bacterial flora within Culex pipiens pipiens (Diptera: Culicidae) in Aleppo, Syria 叙利亚阿勒颇地区库蚊天然菌群的分子检测
IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2025-10-29 DOI: 10.1016/j.jgeb.2025.100604
Ahmed Allahem , Reem Alajmi , Mais Alzarzor Alajami , Sumaiah Al-Ghamdi , Muhammad Amjad Bashir , Jehan Zeb , Khaloud Mohammed Alarjani , Nawal M Al-Malahi , Rewaida Abdel-Gaber
Culex pipiens complex members have been known as important vectors of medical and veterinary arthropod-borne diseases for many pathogens (viral, bacterial, parasitic). Therefore, this study aimed to investigate natural bacterial flora within the Culex pipiens pipiens (Linnaeus,1758) collected from Aleppo City, Syria. Specimens of Cx. p. pipiens were identified based on a pictorial key. The presence of bacterial species was investigated using the PCR technique and special culture media. Results indicated the presence of mine bacterial species, including Wolbachia pipiens, Moraxella catarrhalis, Klebsiella pneumoniae, Staphylococcus aureus, Escherichia coli, Proteus mirabilis, Corynebacterium kutsceri, Clostridium tetani, and Acinetobacter baumannii. Wolbachia controls the sexual behavior of mosquitoes and therefore can be used in biocontrol.
众所周知,库蚊复合体成员是许多病原体(病毒、细菌、寄生虫)的医学和兽医节肢动物传播疾病的重要媒介。因此,本研究旨在调查收集自叙利亚阿勒颇市的Linnaeus(1758)库蚊的天然菌群。石竹属植物标本。根据图形键对库蚊进行识别。采用PCR技术和特殊培养基对细菌种类进行了检测。结果显示,检出的细菌种类包括:库氏棒状杆菌、卡塔卡莫拉菌、肺炎克雷伯菌、金黄色葡萄球菌、大肠埃希菌、奇异变形杆菌、库氏棒状杆菌、破伤风梭菌和鲍曼不动杆菌。沃尔巴克氏体控制蚊子的性行为,因此可用于生物防治。
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引用次数: 0
Cloning and expression of outer membrane proteins from Vibrio alginolyticus, and evaluation of their immune response in Epinephelus coioides 石斑鱼溶藻弧菌外膜蛋白的克隆、表达及免疫应答评价
IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2025-10-27 DOI: 10.1016/j.jgeb.2025.100602
Ngo Thi Huyen , Dong Van Quyen , Tran Nhu Quynh , Le Thi Tuoi , Vu Thi Bich Huyen
Vibrio alginolyticus and Vibrio parahaemolyticus pose significant threats to various marine fish species, with mortality rates reaching as high as 90 %. Outer membrane proteins represent promising antigens for creating immune responses. The bacterial strains V. alginolyticus A2 and V. parahaemolyticus N9 were isolated from diseased grouper samples collected in Vietnam. The two bacterial strains, V. alginolyticus A2 and V. parahaemolyticus N9, were identified as highly virulent, causing disease in Epinephelus coioides. This study assesses the protective efficacy of the recombinant proteins OmpK and OmpU, derived from the ompK and ompU genes of V. alginolyticus A2, in E. coioides against the V. parahaemolyticus N9 and V. alginolyticus A2 strains. The ompK and ompU genes were 798 bp and 1023 bp in length, respectively, encoding polypeptide chains of 265 and 340 amino acids. The amino acid sequences of OmpK and OmpU proteins demonstrated high conservation across the other Vibrio species. The relative percent survival (RPS) for the OmpK protein in orange-spotted groupers challenged with V. alginolyticus A2 and V. parahaemolyticus N9 was 89.18 % and 72.22 %, respectively. Similarly, the group of fish injected with OmpU protein exhibited the RPS values of 82.14 % and 61.11 % against V. alginolyticus A2 and V. parahaemolyticus N9, respectively. Both recombinant antigenic proteins, OmpK and OmpU, induced a strong immune response in E. coioides to V. alginolyticus A2. Most interestingly, OmpK could also cross-protect against V. parahaemolyticus. This result suggests that OmpU and OmpK protein could be used as potential candidates for vaccine development targeting V. alginolyticus and V. parahaemolyticus.
溶藻弧菌和副溶血性弧菌对多种海洋鱼类构成严重威胁,致死率高达90%。外膜蛋白是产生免疫反应的有希望的抗原。从越南采集的病石斑鱼中分离出溶藻弧菌A2和副溶血性弧菌N9株。鉴定出溶藻弧菌A2和副溶血性弧菌N9两株毒株为高毒力菌株,可引起石斑鱼发病。本研究评价了从溶藻弧菌A2的OmpK和OmpU基因中分离得到的重组蛋白OmpK和OmpU对副溶血性弧菌N9和溶藻弧菌A2的保护作用。ompK和ompU基因长度分别为798 bp和1023 bp,分别编码265和340个氨基酸的多肽链。OmpK和OmpU蛋白的氨基酸序列在其他弧菌中表现出高度的保守性。溶藻弧菌A2和副溶血性弧菌N9侵染橙斑石斑鱼后,OmpK蛋白的相对存活率分别为89.18%和72.22%。同样,注射OmpU蛋白组对溶藻弧菌A2和副溶血性弧菌N9的RPS值分别为82.14%和61.11%。重组抗原蛋白OmpK和OmpU均能诱导大肠杆菌对溶藻弧菌A2产生强烈的免疫反应。最有趣的是,OmpK对副溶血性弧菌也有交叉保护作用。这一结果表明,OmpU和OmpK蛋白可作为潜在候选蛋白用于开发针对溶藻弧菌和副溶血性弧菌的疫苗。
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引用次数: 0
Within-family analysis of PRS313: insights into breast cancer risk prediction PRS313的家族内分析:乳腺癌风险预测的见解
IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2025-10-25 DOI: 10.1016/j.jgeb.2025.100605
Hossein Lanjanian , Sahand Tehrani Fateh , Mahdi Akbarzadeh , Maryam Moazzam-Jazi , Maryam Zarkesh , Sajedeh Masjoudi , Asiyeh Sadat Zahedi , Leila Najd-Hassan-Bonab , Sara Asgarian , Mohammad Reza Moghaddas , Kamran Guity , Bita Shalbafan , Amirabbas Momenan , Davood Khalili , Fahimeh Ramezani Tehrani , Mehdi Hedayati , Fereidoun Azizi , Maryam S Daneshpour
Polygenic risk scores (PRS) incorporate numerous genetic variants, each with a small impact on cancer pathogenesis, to provide personalized risk assessments. This study investigated, the applicability of PRS313 for breast cancer risk both in the general population and within families (patients vs different groups of their relatives) from the Tehran Cardiometabolic Genetic Study (TCGS)cohort. The cohort included 72 breast cancer cases and 2,603 controls. PRS313 showed no significant difference between cases and controls, and logistic regression indicated no significant association between PRS313 and breast cancer risk (OR: 1.24, 95 % CI: 1.002–1.54). However, PRS differences between patients and their first- and second-degree relatives showed strong statistical significance. The monogenic variant analysis identified 21 loss-of-function (LOF) variants in the cohort, but only one (BRCA2 9976A > T) was common among breast cancer cases. Our findings highlight the importance of within-family analysis of PRS and the challenges of applying European-derived PRS models to diverse populations.
多基因风险评分(PRS)纳入了许多遗传变异,每个变异对癌症发病机制的影响都很小,以提供个性化的风险评估。本研究调查了来自德黑兰心脏代谢遗传研究(TCGS)队列的PRS313在普通人群和家庭(患者与其亲属的不同群体)中乳腺癌风险的适用性。该队列包括72例乳腺癌病例和2603例对照。PRS313在病例和对照组之间无显著差异,logistic回归显示PRS313与乳腺癌风险无显著相关性(OR: 1.24, 95% CI: 1.002-1.54)。然而,患者及其一、二度亲属的PRS差异有很强的统计学意义。单基因变异分析在队列中确定了21种功能丧失(LOF)变异,但只有一种(BRCA2 9976A >; T)在乳腺癌病例中常见。我们的研究结果强调了家庭内部PRS分析的重要性,以及将欧洲衍生的PRS模型应用于不同人群的挑战。
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引用次数: 0
Eco-friendly synthesis of silver nanoparticles from the leaf blades extract of seagrass Thalassia hemprichii: Multifunctional agents for biomedical and environmental applications 从海草叶片提取物中生态友好地合成纳米银:生物医学和环境应用的多功能剂
IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2025-10-22 DOI: 10.1016/j.jgeb.2025.100600
Shibin Eranhottu , Tijo Cherian , R. Mohanraju , N. Sharmila Devi , Jayalakshmi Sanal , Lincy Sara Varghese , P. Ambili , Mini Thomas , Fahmeeda Parveen P.S. , Willie J.G.M. Peijnenburg
The current study reports for the first time the synthesis of environmentally friendly silver nanoparticles (AgNPs) using leaf blades extract (THE) of seagrass Thalassia hemprichii. The AgNPs were described using several spectroscopic methods. The UV–visible spectral study of THE-AgNPs reported absorbance peak at 420 nm. The intrinsic stretching was seen in the FT-IR (Fourier transform infrared) spectrum inferring the presence and role of diverse functional species in the biological synthesis of AgNPs. The AgNPs reported uniform morphology, spherical shape and high stability validated by electron microscopic and zeta potential studies. The biosynthesized silver nanoparticles were employed in experiments including antibacterial, anti-diabetic (α-amylase (77%), α-glucosidase (78%) at 30 μg/ml, antioxidant (85–90%), anti-inflammatory (45–60%) properties and dye degrading properties. The antibacterial efficacy of silver nanoparticles was assessed against pathogenic species of Staphylococcus aureus and Escherichia coli reporting inhibitory zones of 13 ± 0.3 and 21 ± 0.2 mm, respectively comparable to the standard Gentamycin (22 ± 0.4 mm). The synthesized AgNPs demonstrated excellent dye degradation kinetics in non-photocatalytic dyes methyl orange (96 %; 30 min) and safranin O (95 %; 40 min) along with experimental reusability found to be satisfactorily upto 7 cycles.
本研究首次报道了利用海草Thalassia hemprichii叶片提取物(The)合成环境友好型纳米银(AgNPs)。用几种光谱方法描述了AgNPs。agnps的紫外可见光谱研究报道了420 nm处的吸光度峰。在傅里叶变换红外光谱中可以看到本征拉伸,推断出AgNPs生物合成中存在多种功能物种及其作用。电镜和zeta电位研究证实了AgNPs的均匀形貌、球形和高稳定性。生物合成的纳米银在30 μg/ml下具有抗菌、抗糖尿病(α-淀粉酶(77%)、α-葡萄糖苷酶(78%)、抗氧化(85-90%)、抗炎(45-60%)和染料降解等性能。银纳米颗粒对病原菌金黄色葡萄球菌和大肠杆菌的抑菌效果分别为13±0.3和21±0.2 mm,与标准庆大霉素(22±0.4 mm)相当。合成的AgNPs在非光催化染料甲基橙(96%,30分钟)和红花素O(95%, 40分钟)中表现出良好的染料降解动力学,实验可重复使用7次。
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引用次数: 0
Exploring the potential of Bacillus spp. for secondary metabolite production through genome mining approaches 利用基因组挖掘方法探索芽孢杆菌产生次生代谢物的潜力
IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2025-10-21 DOI: 10.1016/j.jgeb.2025.100595
Showti Raheel Naser, Sanjana Fatema Chowdhury, Md. Murshed Hasan Sarkar, Md. Ahashan Habib, Shahina Akter, Tanjina Akhtar Banu, Barna Goswami, Md. Salim Khan
With the rise of antibiotic resistance along with the increase in the emergence of infectious diseases, the search for new therapeutic agents is of dire need. Bacillus is one of the widely distributed genera of bacteria, which has immense applications in biotechnology, medicine, and environmental protection, and is known to produce a vast range of secondary metabolites (SMs). Using several bioinformatics programming approaches along with phylogenetic and genomic comparisons, biosynthetic gene clusters (BGCs) were characterized from Bacillus reference genome sequences publicly available in databases to obtain new insights into the diversity and distribution of these BGCs in Bacillus for the discovery of unexplored SMs. From this study, average nucleotide identity (ANI) analysis of 87 species shows more than 70% similarities among them, whereas phylogenetic studies show species diversification into 4 clades based on the presence of 1–2 BGC types. High diversity for SMs production was observed in most of the species, where the majority of BGCs types were found to be terpene, nonribosomal peptide synthase (NRPS), polyketide synthase (PKS), hybrid gene clusters, ribosomally synthesized and post translationally modified peptide (RiPP) encoding for different characterized secondary metabolites, along with some unique metabolites characterized based on similarity confidence value. Many uncharacterized BGCs were found distributed within each species, giving new insights into novel compound discovery. These findings will open the door to the identification of species-specific pathways for SM development and contribute to creating new insights into therapeutic systems.
随着抗生素耐药性的上升以及传染病出现的增加,迫切需要寻找新的治疗药物。芽孢杆菌是一种分布广泛的细菌属,在生物技术、医学和环境保护方面有着巨大的应用,并且已知它能产生大量的次生代谢物(SMs)。利用几种生物信息学编程方法以及系统发育和基因组比较,从数据库中公开的芽孢杆菌参考基因组序列中对生物合成基因簇(BGCs)进行了表征,以获得这些BGCs在芽孢杆菌中的多样性和分布的新见解,从而发现未开发的SMs。从本研究中,87个物种的平均核苷酸同源性(ANI)分析显示,它们之间的相似性超过70%,而系统发育研究表明,基于1-2个BGC类型的存在,物种分化为4个分支。大多数物种的短肽产生具有高度的多样性,其中大部分短肽类型是萜烯、非核糖体肽合成酶(NRPS)、聚酮合成酶(PKS)、杂交基因簇、核糖体合成和翻译后修饰肽(RiPP),编码不同特征的次级代谢产物,以及一些基于相似置信度的独特代谢产物。许多未表征的bgc分布在每个物种中,为新化合物的发现提供了新的见解。这些发现将为确定SM发展的物种特异性途径打开大门,并有助于为治疗系统创造新的见解。
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引用次数: 0
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Journal of Genetic Engineering and Biotechnology
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