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Pangenomic analysis of three putative hydrocarbon degrading genera Limnohabitans, Aquabacterium, and Novosphingobium collected from freshwater sources. 从淡水来源收集的三个假定的烃类降解属Limnohabitans, aquabobacterium和Novosphingobium的全基因组分析。
IF 2.3 3区 生物学 Q3 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2025-01-01 DOI: 10.1139/gen-2023-0099
Gurpreet S Kharey, Vince Palace, Lyle Whyte, Charles W Greer

A pangenome analysis offers a unique exploration of the metabolic and genetic diversity, range of ecological niches, and evolution of a particular genus or species. However, such pangenomic analyses are uncommon among environmentally relevant genera. Here, we present freshwater pangenomes of three environmentally relevant genera, Limnohabitans, Aquabacterium, and Novosphingobium. These genera had been detected in hydrocarbon degrading cultures in previous research by our group. Using pangenomic tools we attempted to characterize the extent of hydrocarbon degradation potential within each pangenome and determine what ecological niche each genus occupies within hydrocarbon degradation. In total 46 Limnohabitans, 10 Aquabacterium, and 32 Novosphingobium freshwater genomes were collected from various databases and compiled into pangenomes. We found that each pangenome harbours downstream hydrocarbon degrading potential and unexpected genetic diversity within its core and accessory pangenomes possibly stemming from geographic and metagenomic data processing influences. This work was the first to explore pangenomes of these environmentally relevant genera.

泛基因组分析提供了对代谢和遗传多样性,生态位范围以及特定属或种的进化的独特探索。然而,这种泛基因组分析在环境相关属中并不常见。在这里,我们展示了3个与环境相关的属,Limnohabitans, aquabobacterium和Novosphingobium的淡水泛基因组。本课题组在前期研究中已在烃类降解培养物中检测到这些属。利用泛基因组工具,我们试图表征每个泛基因组内碳氢化合物降解潜力的程度,并确定每个属在碳氢化合物降解中所占据的生态位。从不同的数据库中收集了46种湖沼生物基因组、10种水族基因组和32种淡水新藻基因组,并将其汇编成泛基因组。我们发现每个泛基因组都有下游碳氢化合物降解的潜力,并且在其核心和附属泛基因组中存在意想不到的遗传多样性,这可能是由于地理和宏基因组数据处理的影响。这项工作是第一次探索这些与环境有关的属的泛基因组。
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引用次数: 0
Uncovering the complexity of structural variants in four individuals with autism spectrum disorder. 揭示四名自闭症谱系障碍患者结构变异的复杂性。
IF 2.3 3区 生物学 Q3 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2025-01-01 Epub Date: 2024-12-12 DOI: 10.1139/gen-2024-0121
Sarah Dada, Katherine Dixon, Vahid Akbari, Cameron J Grisdale, Kristina Calli, Sally Martell, Caralyn Reisle, Amanda Lillico-Ouachour, M E Suzanne Lewis, Steven J M Jones

Autism spectrum disorder (ASD) is an increasingly recognized childhood developmental disorder. Despite extensive study, causal variants and molecular diagnosis remain elusive. There is both heterogeneity of the phenotype, as well as the genetic landscape associated with phenotype, which includes both inherited and de novo mutations. Currently, diagnosis is complex and behaviourally based, oftentimes occurring years after the ideal 1-2 years of age. Structural variants (SVs) are large and sometimes complex genomic variants that are likely underrepresented contributors to ASD due to the limitations of short-read DNA sequencing, such as alignment in repetitive regions and regions with GC bias. Here, we performed long-read sequencing (LRS) on four individuals with autism spectrum disorder to delineate SV complexity and determine precise breakpoints for SVs, which was not possible with short-read whole-genome sequencing (SRS). We use LRS to interrogate the methylation pattern associated with the SVs and phase the SV haplotypes to further clarify their contribution to disorder. LRS allows insight into the genome and methylome that allow us to uncover variant complexity and contribution that was previously unseen with SRS. Ultimately, this furthers precision diagnosis and contributes to individualized treatment for affected individuals and their families within the clinic.

自闭症谱系障碍(ASD)是一种日益被认可的儿童发育障碍。尽管进行了广泛的研究,但因果变异和分子诊断仍然难以捉摸。自闭症的表型以及与表型相关的遗传情况都存在异质性,其中包括遗传突变和新发突变。目前,诊断很复杂,而且以行为为基础,往往在理想的 1-2 岁年龄之后数年才能确诊。结构变异(SVs)是大的、有时是复杂的基因组变异,由于短读DNA测序的局限性,如重复区域和具有GC偏倚的区域的配准,这些变异很可能是导致ASD的代表性不足的因素。在这里,我们对四名自闭症谱系障碍患者进行了长读数测序(LRS),以划分 SV 的复杂性并确定 SV 的精确断点,而这是短读数测序(SRS)无法实现的。我们利用 LRS 分析与 SV 相关的甲基化模式,并对 SV 单倍型进行分期,以进一步明确它们对自闭症的影响。通过 LRS,我们可以深入了解基因组和甲基组,从而发现 SRS 以前无法发现的变异复杂性和贡献。最终,这将促进精准诊断,并有助于在临床上为受影响的个体及其家庭提供个体化治疗。
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引用次数: 0
Detection of polymorphisms in the prion-like protein Doppel (PRND) gene in Jeju black cattle. 济州黑牛朊样蛋白Doppel (PRND)基因多态性检测。
IF 2.3 3区 生物学 Q3 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2025-01-01 DOI: 10.1139/gen-2024-0145
Thi-Thuy-Duong Nguyen, Da-In Choi, Kyoungtag Do, Nameun Kim, Byung-Hoon Jeong

Prion protein (PrP) plays a central role in bovine spongiform encephalopathy (BSE). Given the structural and biological similarity to PrP, recent research has focused on Doppel (Dpl) protein, which is encoded by the prion-like protein Doppel (PRND) gene. In this study, we characterized the PRND genetic polymorphism in 100 Jeju black cattle, a native Korean breed. We predicted the potential effect of nonsynonymous single nucleotide polymorphisms (SNPs) on the Dpl protein function using three in silico tools: SIFT, PANTHER, and PolyPhen-2. Finally, we performed a comparative analysis of the genotype distribution of c.395A>G (Q132R) between German BSE-infected cattle and Korean healthy cattle to assess the BSE susceptibility of Korean cattle. We found eight SNPs, including three novel SNPs c.-7C>T, c.172G>A (A58T), and c.537+83C>T. Only c.172G>A was predicted by SIFT to exert a deleterious effect. According to the comparative analysis, Holstein and Jeju black cattle exhibited a higher potential risk for BSE. To the best of our knowledge, this is the first report on the genetic characteristics of the PRND gene in Jeju black cattle.

朊蛋白(PrP)在牛海绵状脑病(BSE)中起着核心作用。鉴于其与PrP的结构和生物学相似性,近年来的研究重点是由朊病毒样蛋白Doppel (PRND)基因编码的Doppel (Dpl)蛋白。本研究对100头韩国本土品种济州黑牛的PRND基因多态性进行了分析。我们使用SIFT、PANTHER和polyphen2三种计算机工具预测了非同义单核苷酸多态性(SNPs)对Dpl蛋白功能的潜在影响。最后,我们比较分析了c.395A >g (Q132R)在德国疯牛病感染牛和韩国健康牛之间的基因型分布,以评估韩国牛对疯牛病的易感性。我们发现了8个snp,包括3个新的snp c - 7c >T, c.172G>A (A58T)和c.537+83C>T。SIFT预测只有c.172G>A会产生有害影响。对比分析,荷斯坦牛和济州黑牛患疯牛病的潜在风险较高。据我们所知,这是济州黑牛PRND基因遗传特征的第一份报告。
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引用次数: 0
Understanding the genomics responses of freshwater zooplanktons to salinization: a research hotspot in a saltier world. 了解淡水浮游动物对盐碱化的基因组反应:盐碱化世界的研究热点。
IF 1.7 3区 生物学 Q3 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2025-01-01 DOI: 10.1139/gen-2024-0129
Ran Bi, Leyao Xiao, Lei Zhao, Bret L Coggins, Sen Xu, Michael E Pfrender, Mingbo Yin

The worldwide salinization of freshwater ecosystems poses a major threat to the biodiversity, functioning and services that these essential ecosystems provide. We are far from fully understanding the ecological and evolutionary consequences of salinization for freshwater organisms. Here we review current research on the genomic responses to salinity in freshwater zooplankton. Surveying transcriptomic studies, we identify many key ion transport genes critical for osmoregulation of ions in multiple zooplankton species in response to salinity stress. Laboratory investigations of natural zooplankton populations inhabiting gradients of salinity often reveal additional candidate genes that are not identified in gene expression experiments (e.g., trehalose). We suggest that future studies should focus on genomic approaches to explore the molecular mechanisms of adaptation to freshwater salinization in zooplanktons, and to predict the eco-evolutionary consequences of freshwater salinization.

世界范围内淡水生态系统的盐碱化对这些重要生态系统提供的生物多样性、功能和服务构成重大威胁。我们还远远没有完全了解盐碱化对淡水生物的生态和进化后果。本文综述了淡水浮游动物基因组对盐度响应的研究进展。通过转录组学研究,我们确定了许多关键的离子转运基因,这些基因对多种浮游动物在盐度胁迫下的离子渗透调节至关重要。对生活在盐度梯度中的天然浮游动物种群的实验室调查经常揭示在基因表达实验中未发现的额外候选基因(例如海藻糖)。我们建议未来的研究应集中在基因组方法上,探索浮游动物适应淡水盐碱化的分子机制,并预测淡水盐碱化的生态进化后果。
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引用次数: 0
Analysis of apoptosis levels and MMP7 gene expression in ovaries of postpartum female rabbits after long-term use of LHRH-A3. 长期使用LHRH-A3对产后雌兔卵巢细胞凋亡水平及MMP7基因表达的影响
IF 2.3 3区 生物学 Q3 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2025-01-01 DOI: 10.1139/gen-2024-0146
Sen Wang, Fan Wang, Lei Wang, Zhiyuan Bao, Jiawei Cai, Bohao Zhao, Xinsheng Wu, Yang Chen

Luteinizing hormone-releasing hormone A3 (LHRH-A3), a reproductive hormone analog, is widely used to stimulate ovulation in female rabbits. However, the long-term impact of sustained LHRH-A3 administration on the reproductive system, particularly ovarian health, remains unclear. In this study, we compared apoptosis levels in ovaries and molecular regulation between LHRH-A3-treated (A3 group) and untreated female rabbits (N group) after their 5th litter. Western blotting showed a significantly lower Bcl-2/Bax ratio in the A3 group compared with the N group (P < 0.01), indicating higher ovarian apoptosis. Ovarian tissues from four rabbits per group were divided into the A3 group and the N group, and RNA-seq technology was then utilized to conduct transcriptome analysis on these two groups. This analysis revealed 220 differentially expressed genes (DEGs), including BMP6, BMP15, CYP1A1, and other reproductive-related genes. KEGG analysis of these DEGs showed their involvement in processes such as the cell cycle, PI3K-Akt signaling pathway, and ovarian steroidogenesis. Subsequently, we selected the key gene Matrix metallopeptidase 7 (MMP7) for functional analysis using CCK8 and Annexin V-FITC/PI techniques. MMP7 was found to promote the proliferation of granulosa cells (GCs) and inhibit apoptosis (P < 0.01). In conclusion, LHRH-A3 treatment can modulate ovarian molecular regulation, with the key gene MMP7 involved in the proliferation and apoptosis of GCs.

促黄体激素释放激素A3 (LHRH-A3)是一种生殖激素类似物,被广泛用于刺激雌性兔的排卵。然而,持续使用LHRH-A3对生殖系统,特别是卵巢健康的长期影响尚不清楚。在本研究中,我们比较了lhrh -A3处理组(A3组)和未处理组(N组)第5胎母兔卵巢细胞凋亡水平和分子调控。Western blotting显示,与N组相比,A3组Bcl-2/Bax比值(P BMP6、BMP15、CYP1A1等生殖相关基因)显著降低。KEGG分析显示,这些deg参与细胞周期、PI3K-Akt信号通路和卵巢类固醇生成等过程。随后,我们选择了关键基因基质金属肽酶7 (Matrix metallopeptidase 7, MMP7),利用CCK8和Annexin V-FITC/PI技术进行功能分析。MMP7可促进颗粒细胞(GCs)的增殖,抑制细胞凋亡(P MMP7参与GCs的增殖和凋亡)。
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引用次数: 0
Towards a more pluralistic approach to evaluating the farm-level impacts of new breeding technologies in sub-Saharan Africa. 在撒哈拉以南非洲采用更多元化的方法来评估新育种技术对农场的影响。
IF 1.7 3区 生物学 Q3 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2025-01-01 DOI: 10.1139/gen-2025-0023
Matthew A Schnurr, Helena Shilomboleni, Alanna Taylor, Brian Dowd-Uribe

The Green Revolution's objective of increasing yields precipitated an approach to impact evaluation that relied predominantly on econometric analyses to measure yield differences and how those differences impact farmer incomes. This paper explores the legacies of this assessment scholarship for New Breeding Technologies (NBTs) in sub-Saharan Africa. It examines three pervasive assumptions underpinning econometric-informed evaluative approaches: farmer homogeneity, profit maximization, and scale neutrality. The paper concludes by introducing Farming Systems Research as a complement to existing econometric approaches, which can serve to create more robust and accurate assessments of the potential farm-level benefits and challenges of NBTs in sub-Saharan Africa.

绿色革命提高产量的目标催生了一种影响评估方法,这种方法主要依靠计量经济学分析来衡量产量差异以及这些差异如何影响农民收入。本文探讨了该评估奖学金对撒哈拉以南非洲地区新育种技术(nbt)的影响。它考察了支撑计量经济学评估方法的三个普遍假设:农民同质性、利润最大化和规模中立。论文最后介绍了农业系统研究,作为对现有计量经济学方法的补充,这有助于对撒哈拉以南非洲国家农业系统的潜在效益和挑战进行更有力和准确的评估。
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引用次数: 0
The genome of the holothuroid Parastichopus tremulus. 震颤拟寄生虫的基因组。
IF 1.7 3区 生物学 Q3 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2025-01-01 DOI: 10.1139/gen-2025-0015
Roger Meisal, Gyda Christophersen

The sea cucumber Parastichopus tremulus is an important holothuroid species inhabiting the eastern North Atlantic Ocean benthic zone at depths from about 20 to 3000 m. Geographical distribution is from the Barents Sea in the north to the Canary Islands in the south. Along with the increasing commercial interest of new sea cucumber species, research into sea cucumber biology has also advanced. Recently, the genomes of tropical sea cucumber species have become available. However, genomes of cold-water sea cucumbers are still lacking. To fill this knowledge gap, both the mitochondrial genome and the nuclear genome of P. tremulus have been sequenced and assembled. Mitochondrial genome size and gene-organization closely matched what has been found for other holothuroids of the Stichopodidae family. The total nuclear genome assembly length was found to be 775 Mb at 24× coverage and achieved a final BUSCO completeness score of 87.2%.

海参(Parastichopus tremulus)是生活在北大西洋东部海底约20 - 3000米深处的一种重要的海参。地理分布北起巴伦支海,南至加那利群岛。随着海参新品种商业价值的提高,对海参生物学的研究也在不断推进。最近,热带海参物种的基因组已经可用。然而,冷水海参的基因组仍然缺乏。为了填补这一知识空白,我们对震颤假蝇的线粒体基因组和核基因组进行了测序和组装。线粒体基因组的大小和基因组织与其他弓形虫科的全弓形虫非常相似。在24倍覆盖率下,核基因组组装总长度为775 Mb,最终BUSCO完整性评分为87.2%。
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引用次数: 0
Note of appreciation. 表示感谢。
IF 2.3 3区 生物学 Q3 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2025-01-01 DOI: 10.1139/gen-2024-0172
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引用次数: 0
The current regulatory status of biotechnologically bred crops in Canada and beyond. 目前在加拿大和其他国家的生物技术育种作物的监管状况。
IF 1.7 3区 生物学 Q3 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2025-01-01 DOI: 10.1139/gen-2025-0008
Stacy D Singer, Dominique Michaud

Crop breeding, which relies on the presence and/or generation of alterations in DNA, has been essential to the development of agricultural production. Such breeding endeavours are carried out using a wide range of methods, which have diversified immensely over the years as our understanding of genetics has grown. While this expansion in our breeding "toolbox" has provided vast improvements in the specificity, pace and effectiveness of crop trait enhancement, apprehension surrounding the use of biotechnological breeding platforms in particular led countries to develop costly and lengthy regulatory processes for plants deemed to be "genetically modified" as a means of managing safety concerns and assuaging public unease. In this article, we discuss crop regulatory policies in Canada and beyond, in the context of transgenic crops, as well as those developed using newer biotechnological breeding platforms such as gene editing. We also examine the benefits of biotechnologically bred crops, and consider the broader socio-economic, ethical, and environmental impacts of overly restrictive regulatory frameworks, which could very feasibly limit the prospect of food security in the future.

作物育种依赖于DNA的存在和/或产生变化,对农业生产的发展至关重要。这种育种工作使用了广泛的方法,随着我们对遗传学的理解的增长,这些方法多年来已经大大多样化。虽然我们的育种“工具箱”的扩大在作物性状增强的特异性、速度和有效性方面取得了巨大进步,但对使用生物技术育种平台的担忧,特别是导致各国为被视为“转基因”的植物制定了昂贵而漫长的监管程序,作为管理安全问题和缓解公众不安的一种手段。在这篇文章中,我们讨论了加拿大和其他国家的作物监管政策,在转基因作物的背景下,以及那些使用新的生物技术育种平台(如基因编辑)开发的作物。我们还研究了生物技术培育作物的好处,并考虑了过于严格的监管框架所带来的更广泛的社会经济、伦理和环境影响,这很可能会限制未来粮食安全的前景。
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引用次数: 0
Comparative genome analysis of virulent strains of Bacillus anthracis causing anthrax outbreaks in animals. 引起动物炭疽爆发的炭疽芽孢杆菌毒力菌株的比较基因组分析。
IF 1.7 3区 生物学 Q3 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2025-01-01 DOI: 10.1139/gen-2025-0045
Awadhesh Prajapati, Sripada Sairam, Suresh Bindu, Roopa Anandamurthy Hemanth, Suresh Kumar Mendem, Nihar Nalini Mohanty, Revanaiah Yogisharadhya, Mohammed Mudassar Chanda, Sathish Bhadravati Shivachandra

Anthrax, caused by the bacterial pathogen Bacillus anthracis, is a lethal disease affecting both livestock and humans. This study focused on the comparative whole-genome analysis of two Indian virulent Bacillus anthracis strains recovered from anthrax cases in cattle (NIVEDIAX3) and sheep (NIVEDIAX61), and their comparison with available genomes (n = 55) in the NCBI database. Phylogenetic analysis based on average nucleotide identity clustered the 57 strains into 3 groups, with both NIVEDIAX strains grouped under Cluster II, alongside the Ames Ancestor strain. Multilocus sequence typing (MLST) assigned the strains to Bacillus cereus sequence type ST1, Bacillus anthracis core genome MLST ST284, and Bacillus anthracis plasmid ST12 based on typing scheme. A total of 5217 orthologous clusters and 468 single-copy gene clusters shared between the NIVEDIAX strains and the Ames Ancestor strain were identified. Canonical single nucleotide polymorphism (canSNP) analysis classified both strains as A.Br.003 (A.Br.Aust94 sub-lineage). Further, analysis of the 57 Bacillus anthracis genomes revealed that A.Br.003 was the most prevalent canSNP among animal isolates. In India, multiple Bacillus anthracis sub-lineages have been reported. In conclusion, the circulation of diverse Bacillus anthracis sub-lineages in livestock across Southern and Eastern states of India, was noted.

炭疽是由细菌病原体炭疽芽孢杆菌引起的,是一种影响牲畜和人类的致命疾病。本研究的重点是对从牛(NIVEDIAX3)和羊(NIVEDIAX61)炭疽病例中恢复的两种印度毒性炭疽杆菌菌株进行全基因组比较分析,并与NCBI数据库中现有基因组(n=55)进行比较。基于平均核苷酸同源性(ANI)的系统发育分析将57株菌株分为3个类群,其中NIVEDIAX菌株和Ames祖先菌株均归为聚类II。根据分型方案,多位点序列分型(MLST)将菌株分为蜡样芽孢杆菌序列型ST1、炭疽芽孢杆菌cgMLST ST284和炭疽芽孢杆菌质粒ST12。共有5217个同源基因簇和468个单拷贝基因簇存在于NIVEDIAX菌株和Ames祖先菌株之间。典型SNP (canSNP)分析将这两株菌株归类为A.Br.003(A.Br。Aust94 sub-lineage)。此外,对57份炭疽芽胞杆菌基因组的分析表明,炭疽芽胞杆菌的基因组中含有炭疽芽胞杆菌。003是动物分离株中最常见的canSNP。在印度,有多个炭疽芽孢杆菌亚谱系的报道。总之,注意到印度南部和东部各邦牲畜中多种炭疽芽胞杆菌亚系的传播。
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引用次数: 0
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