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Comparative and phylogenetic analysis of chloroplast genomes from four species in Quercus section Cyclobalanopsis. 栎属 Cyclobalanopsis 科四个物种叶绿体基因组的比较和系统发育分析。
Q3 GENETICS & HEREDITY Pub Date : 2024-06-10 DOI: 10.1186/s12863-024-01232-y
Buyu Li, Ke Huang, Xiaoli Chen, Chun Qin, Xuemei Zhang

The Quercus L. species is widely recognized as a significant group in the broad-leaved evergreen forests of tropical and subtropical East Asia. These plants hold immense economic value for their use as firewood, furniture, and street trees. However, the identification of Quercus species is considered challenging, and the relationships between these species remain unclear. In this study, we sequenced and assembled the chloroplast (cp.) genomes of four Quercus section Cyclobalanopsis species (Quercus disciformis, Quercus dinghuensis, Quercus blackei, and Quercus hui). Additionally, we retrieved six published cp. genome sequences of Cyclobalanopsis species (Quercus fleuryi, Quercus pachyloma, Quercus ningangensis, Quercus litseoides, Quercus gilva, and Quercus myrsinifolia). Our aim was to perform comparative genomics and phylogenetic analyses of the cp. whole genome sequences of ten Quercus section Cyclobalanopsis species. The results revealed that: (1) Quercus species exhibit a typical tetrad structure, with the cp. genome lengths of the newly sequenced species (Q. disciformis, Q. dinghuensis, Q. blakei, and Q. hui) being 160,805 bp, 160,801 bp, 160,787 bp, and 160,806 bp, respectively; (2) 469 SSRs were detected, among which A/T base repeats were the most common; (3) no rearrangements or inversions were detected within the chloroplast genomes. Genes with high nucleotide polymorphism, such as rps14-psaB, ndhJ-ndhK, rbcL-accD, and rps19-rpl2_2, provided potential reference loci for molecular identification within the Cyclobalanopsis section; (4) phylogenetic analysis showed that the four sections of Cyclobalanopsis were grouped into sister taxa, with Q. hui being the first to diverge from the evolutionary branch and Q. disciformis being the most closely related to Q. blackei. The results of this study form the basis for future studies on taxonomy and phylogenetics.

柞树被广泛认为是东亚热带和亚热带常绿阔叶林中的一个重要树种。这些植物可用作木柴、家具和行道树,具有巨大的经济价值。然而,柞树物种的鉴定被认为具有挑战性,而且这些物种之间的关系仍不清楚。在本研究中,我们测序并组装了 4 个柞树科 Cyclobalanopsis 树种(Quercus disciformis、Quercus dinghuensis、Quercus blackei 和 Quercus hui)的叶绿体(cp.)此外,我们还检索了 6 个已发表的 Cyclobalanopsis 树种(Quercus fleuryi、Quercus pachyloma、Quercus ningangensis、Quercus litseoides、Quercus gilva 和 Quercus myrsinifolia)的 cp.我们的目的是对十种枹栎科 Cyclobalanopsis 树种的全基因组序列进行比较基因组学和系统进化分析。结果显示(新测序物种(Q. disciformis, Q. dinghuensis, Q. blakei, and Q. hui)的 cp.hui) 分别为 160,805 bp、160,801 bp、160,787 bp 和 160,806 bp;(2)检测到 469 个 SSR,其中 A/T 碱基重复最为常见;(3)叶绿体基因组内未检测到重排或倒位。核苷酸多态性较高的基因,如 rps14-psaB、ndhJ-ndhK、rbcL-accD 和 rps19-rpl2_2 等,为全球蝶形花科内的分子鉴定提供了潜在的参考位点;(4)系统进化分析表明,全球蝶形花科的四个部分被划分为姊妹类群,其中 Q. hui 是第一个从进化分支中分化出来的,而 Q. disciformis 与 Q. blackei 的亲缘关系最为密切。这项研究的结果为今后的分类学和系统发生学研究奠定了基础。
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引用次数: 0
Prediction of the most deleterious non-synonymous SNPs in the human IL1B gene: evidence from bioinformatics analyses. 预测人类 IL1B 基因中最有害的非同义 SNPs:生物信息学分析的证据。
Q3 GENETICS & HEREDITY Pub Date : 2024-06-10 DOI: 10.1186/s12863-024-01233-x
Ola Abuzaid, Abeer Babiker Idris, Semih Yılmaz, Einass Babikir Idris, Leena Babiker Idris, Mohamed A Hassan

Background: Polymorphisms in IL1B play a significant role in depression, multiple inflammatory-associated disorders, and susceptibility to infection. Functional non-synonymous SNPs (nsSNPs) result in changes in the encoded amino acids, potentially leading to structural and functional alterations in the mutant proteins. So far, most genetic studies have concentrated on SNPs located in the IL1B promoter region, without addressing nsSNPs and their association with multifactorial diseases. Therefore, this study aimed to explore the impact of deleterious nsSNPs retrieved from the dbSNP database on the structure and functions of the IL1B protein.

Results: Six web servers (SIFT, PolyPhen-2, PROVEAN, SNPs&GO, PHD-SNP, PANTHER) were used to analyze the impact of 222 missense SNPs on the function and structure of IL1B protein. Five novel nsSNPs (E100K, T240I, S53Y, D128Y, and F228S) were found to be deleterious and had a mutational impact on the structure and function of the IL1B protein. The I-mutant v2.0 and MUPro servers predicted that these mutations decreased the stability of the IL1B protein. Additionally, these five mutations were found to be conserved, underscoring their significance in protein structure and function. Three of them (T240I, D128Y, and F228S) were predicted to be cancer-causing nsSNPs. To analyze the behavior of the mutant structures under physiological conditions, we conducted a 50 ns molecular dynamics simulation using the WebGro online tool. Our findings indicate that the mutant values differ from those of the IL1B wild type in terms of RMSD, RMSF, Rg, SASA, and the number of hydrogen bonds.

Conclusions: This study provides valuable insights into nsSNPs located in the coding regions of IL1B, which lead to direct deleterious effects on the functional and structural aspects of the IL1B protein. Thus, these nsSNPs could be considered significant candidates in the pathogenesis of disorders caused by IL1B dysfunction, contributing to effective drug discovery and the development of precision medications. Thorough research and wet lab experiments are required to verify our findings. Moreover, bioinformatic tools were found valuable in the prediction of deleterious nsSNPs.

背景:IL1B 的多态性在抑郁症、多种炎症相关疾病和感染易感性中起着重要作用。功能性非同义 SNPs(nsSNPs)会导致编码氨基酸发生变化,从而可能导致突变蛋白的结构和功能发生改变。迄今为止,大多数遗传学研究都集中于位于 IL1B 启动子区域的 SNPs,而没有涉及 nsSNPs 及其与多因素疾病的关联。因此,本研究旨在探讨从 dbSNP 数据库中检索到的有害 nsSNPs 对 IL1B 蛋白结构和功能的影响:结果:研究人员利用六个网络服务器(SIFT、PolyPhen-2、PROVEAN、SNPs&GO、PHD-SNP、PANTHER)分析了222个错义SNPs对IL1B蛋白功能和结构的影响。结果发现,5 个新的 nsSNPs(E100K、T240I、S53Y、D128Y 和 F228S)是有害的,对 IL1B 蛋白的结构和功能有突变影响。I-mutant v2.0 和 MUPro 服务器预测这些突变会降低 IL1B 蛋白的稳定性。此外,研究还发现这五个突变是保守的,强调了它们在蛋白质结构和功能中的重要性。其中三个突变(T240I、D128Y 和 F228S)被预测为致癌 nsSNPs。为了分析突变体结构在生理条件下的行为,我们使用 WebGro 在线工具进行了 50 ns 的分子动力学模拟。我们的研究结果表明,突变体在 RMSD、RMSF、Rg、SASA 和氢键数量方面与 IL1B 野生型的值不同:本研究为了解位于 IL1B 编码区的 nsSNPs 提供了有价值的见解,这些 nsSNPs 会直接对 IL1B 蛋白的功能和结构产生有害影响。因此,这些 nsSNPs 可被视为 IL1B 功能障碍所致疾病发病机制中的重要候选基因,有助于有效的药物发现和精准药物的开发。要验证我们的发现,还需要进行深入的研究和湿实验室实验。此外,生物信息学工具在预测有害 nsSNPs 方面也很有价值。
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引用次数: 0
De novo transcriptome assembly of the oak processionary moth Thaumetopoea processionea. 橡树游蛾 Thaumetopoea processionea 的全新转录组组装。
Q3 GENETICS & HEREDITY Pub Date : 2024-06-08 DOI: 10.1186/s12863-024-01237-7
Johan Zicola, Prasad Dasari, Katharina Klara Hahn, Katharina Ziese-Kubon, Armin Meurer, Timo Buhl, Stefan Scholten

Objectives: The oak processionary moth (OPM) (Thaumetopoea processionea) is a species of moth (order: Lepidoptera) native to parts of central Europe. However, in recent years, it has become an invasive species in various countries, particularly in the United Kingdom and the Netherlands. The larvae of the OPM are covered with urticating barbed hairs (setae) causing irritating and allergic reactions at the three last larval stages (L3-L5). The aim of our study was to generate a de novo transcriptomic assembly for OPM larvae by including one non-allergenic stage (L2) and two allergenic stages (L4 and L5). A transcriptomic assembly will help identify potential allergenic peptides produced by OPM larvae, providing valuable information for developing novel therapeutic strategies and allergic immunodiagnostic assays.

Data: Transcriptomes of three larval stages of the OPM were de novo assembled and annotated using Trinity and Trinotate, respectively. A total of 145,251 transcripts from 99,868 genes were identified. Bench-marking universal single-copy orthologues analysis indicated high completeness of the assembly. About 19,600 genes are differentially expressed between the non-allergenic and allergenic larval stages. The data provided here contribute to the characterization of OPM, which is both an invasive species and a health hazard.

目的:橡树游蛾(OPM)(Thaumetopoea processionea)是一种原产于中欧部分地区的蛾类(鳞翅目)。但近年来,它已成为各国的入侵物种,尤其是在英国和荷兰。OPM的幼虫身上长满了刺激性倒钩毛(刚毛),在幼虫的最后三个阶段(L3-L5)会引起刺激和过敏反应。我们研究的目的是通过包括一个非过敏阶段(L2)和两个过敏阶段(L4 和 L5),为 OPM 幼虫生成一个全新的转录组。转录组的组装将有助于确定OPM幼虫产生的潜在过敏肽,为开发新型治疗策略和过敏免疫诊断测定提供有价值的信息:分别使用 Trinity 和 Trinotate 对 OPM 三个幼虫阶段的转录组进行了全新组装和注释。共鉴定了来自 99,868 个基因的 145,251 个转录本。标杆通用单拷贝同源物分析表明组装的完整性很高。大约 19,600 个基因在非过敏幼虫阶段和过敏幼虫阶段有不同表达。本文提供的数据有助于描述既是入侵物种又危害健康的 OPM 的特征。
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引用次数: 0
Transcriptome analysis revealed differences in gene expression in sheep muscle tissue at different developmental stages. 转录组分析显示,绵羊肌肉组织在不同发育阶段的基因表达存在差异。
Q3 GENETICS & HEREDITY Pub Date : 2024-06-07 DOI: 10.1186/s12863-024-01235-9
Sailuo Wan, Mengyu Lou, Sihuan Zhang, Shuang Li, Yinghui Ling

Background: The analysis of differentially expressed genes in muscle tissues of sheep at different ages is helpful to analyze the gene expression trends during muscle development. In this study, the longissimus dorsi muscle of pure breeding Hu sheep (H), Suffolk sheep and Hu sheep hybrid F1 generation (SH) and East Friesian and Hu sheep hybrid sheep (EHH) three strains of sheep born 2 days (B2) and 8 months (M8) was used as the research object, and transcriptome sequencing technology was used to identify the differentially expressed genes of sheep longissimus dorsi muscle in these two stages. Subsequently, GO and KEGG enrichment analysis were performed on the differential genes. Nine differentially expressed genes were randomly selected and their expression levels were verified by qRT-PCR.

Results: The results showed that 842, 1301 and 1137 differentially expressed genes were identified in H group, SH group and EHH group, respectively. Among them, 191 differential genes were enriched in these three strains, including pre-folding protein subunit 6 (PFDN6), DnaJ heat shock protein family member A4 (DNAJA4), myosin heavy chain 8 (MYH8) and so on. GO and KEGG enrichment analysis was performed on 191 differentially expressed genes shared by the three strains to determine common biological pathways. The results showed that the differentially expressed genes were significantly enriched in ribosomes, unfolded protein binding, FoxO signaling pathway, glycolysis / glycogen generation and glutathione signaling pathway that regulate muscle protein synthesis and energy metabolism. The results of qRT-PCR were consistent with transcriptome sequencing, which proved that the sequencing results were reliable.

Conclusions: Overall, this study revealed the important genes and signaling pathways related to sheep skeletal muscle development, and the result laid a foundation for further understanding the mechanism of sheep skeletal muscle development.

背景:分析不同年龄绵羊肌肉组织中的差异表达基因有助于分析肌肉发育过程中的基因表达趋势。本研究以出生2天(B2)和8个月(M8)的纯种胡羊(H)、萨福克羊与胡羊杂交F1代(SH)和东弗里斯兰羊与胡羊杂交羊(EHH)3个品系的绵羊背长肌为研究对象,利用转录组测序技术鉴定了这两个阶段绵羊背长肌的差异表达基因。随后,对差异基因进行了 GO 和 KEGG 富集分析。随机选择了 9 个差异表达基因,并通过 qRT-PCR 验证了其表达水平:结果显示,H 组、SH 组和 EHH 组分别有 842、1301 和 1137 个差异表达基因。其中,191个差异基因在这三个菌株中富集,包括前折叠蛋白亚基6(PFDN6)、DnaJ热休克蛋白家族成员A4(DNAJA4)、肌球蛋白重链8(MYH8)等。对三个菌株共有的 191 个差异表达基因进行了 GO 和 KEGG 富集分析,以确定共同的生物学通路。结果表明,差异表达基因在核糖体、未折叠蛋白结合、FoxO 信号通路、糖酵解/糖原生成和谷胱甘肽信号通路中明显富集,这些通路调控肌肉蛋白质合成和能量代谢。qRT-PCR结果与转录组测序结果一致,证明测序结果是可靠的:总之,本研究揭示了与绵羊骨骼肌发育相关的重要基因和信号通路,为进一步了解绵羊骨骼肌的发育机制奠定了基础。
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引用次数: 0
Genome sequencing of captive white tigers from Bangladesh. 孟加拉国圈养白虎的基因组测序。
Q3 GENETICS & HEREDITY Pub Date : 2024-06-06 DOI: 10.1186/s12863-024-01239-5
Ashutosh Das, Md Shahadat Hossain Suvo, Mishuk Shaha, Mukta Das Gupta

Objectives: The Bengal tiger Panthera tigris tigris, is an emblematic animal for Bangladesh. Despite being the apex predator in the wild, their number is decreasing due to anthropogenic activities such as hunting, urbanization, expansion of agriculture and deforestation. By contrast, captive tigers are flourishing due to practical conservation efforts. Breeding within the small captive population can produce inbreeding depression and genetic bottlenecks, which may limit the success of conservation efforts. Despite past decades of research, a comprehensive database on genetic variation in the captive and wild Bengal tigers in Bangladesh still needs to be included. Therefore, this research aimed to investigate the White Bengal tiger genome to create a resource for future studies to understand variation underlying important functional traits.

Data description: Blood samples from Chattogram Zoo were collected for three white Bengal tigers. Genomic DNA for all collected samples were extracted using a commercial DNA extraction kit. Whole genome sequencing was performed using a DNBseq platform. We generated 77 Gb of whole-genome sequencing (WGS) data for three white Bengal tigers (Average 11X coverage/sample). The data we generated will establish a paradigm for tiger research in Bangladesh by providing a genomic resource for future functional studies on the Bengal white tiger.

目标孟加拉虎(Panthera tigris tigris)是孟加拉国的标志性动物。尽管孟加拉虎是野生动物中的顶级掠食者,但由于人类活动,如狩猎、城市化、农业扩张和森林砍伐,孟加拉虎的数量正在减少。相比之下,人工饲养的老虎却因切实可行的保护工作而蓬勃发展。在圈养的小种群中繁殖会产生近亲繁殖抑制和遗传瓶颈,这可能会限制保护工作的成功。尽管已经进行了几十年的研究,但孟加拉国圈养和野生孟加拉虎遗传变异的综合数据库仍有待建立。因此,本研究旨在调查白孟加拉虎基因组,为今后的研究建立一个资源库,以了解重要功能特征的基础变异:数据描述:从 Chattogram 动物园采集了三只孟加拉白虎的血液样本。使用商业 DNA 提取试剂盒提取了所有采集样本的基因组 DNA。使用 DNBseq 平台进行了全基因组测序。我们为三只孟加拉虎生成了 77 Gb 的全基因组测序(WGS)数据(平均 11 倍覆盖率/样本)。我们生成的数据将为孟加拉白虎未来的功能研究提供基因组资源,从而为孟加拉国的老虎研究建立一个范例。
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引用次数: 0
Draft assembly and annotation of the Cuban crocodile (Crocodylus rhombifer) genome. 古巴鳄(Crocodylus rhombifer)基因组的组装和注释草案。
Q3 GENETICS & HEREDITY Pub Date : 2024-06-06 DOI: 10.1186/s12863-024-01240-y
Robert W Meredith, Yoamel Milián-García, John Gatesy, Michael A Russello, George Amato

Objectives: The new data provide an important genomic resource for the Critically Endangered Cuban crocodile (Crocodylus rhombifer). Cuban crocodiles are restricted to the Zapata Swamp in southern Matanzas Province, Cuba, and readily hybridize with the widespread American crocodile (Crocodylus acutus) in areas of sympatry. The reported de novo assembly will contribute to studies of crocodylian evolutionary history and provide a resource for informing Cuban crocodile conservation.

Data description: The final 2.2 Gb draft genome for C. rhombifer consists of 41,387 scaffolds (contigs: N50 = 104.67 Kb; scaffold: N50-518.55 Kb). Benchmarking Universal Single-Copy Orthologs (BUSCO) identified 92.3% of the 3,354 genes in the vertebrata_odb10 database. Approximately 42% of the genome (960Mbp) comprises repeat elements. We predicted 30,138 unique protein-coding sequences (17,737 unique genes) in the genome assembly. Functional annotation found the top Gene Ontology annotations for Biological Processes, Molecular Function, and Cellular Component were regulation, protein, and intracellular, respectively. This assembly will support future macroevolutionary, conservation, and molecular studies of the Cuban crocodile.

目的:新数据为极度濒危的古巴鳄(Crocodylus rhombifer)提供了重要的基因组资源。古巴鳄鱼仅限于古巴马坦萨斯省南部的萨帕塔沼泽地,在共生地区很容易与广泛分布的美洲鳄杂交。所报告的全新组合将有助于对鳄鱼进化史的研究,并为古巴鳄鱼的保护提供信息资源:C.rhombifer的最终2.2 Gb基因组草案由41,387个脚手架组成(等位基因:N50 = 104.67 Kb;脚手架:N50-518.55 Kb)。通用单拷贝同源物基准(BUSCO)确定了脊椎动物_odb10 数据库中 3,354 个基因的 92.3%。约 42% 的基因组(960Mbp)由重复元件组成。我们在基因组组装中预测了 30,138 个独特的蛋白质编码序列(17,737 个独特的基因)。功能注释发现,基因本体论(Gene Ontology)在生物过程、分子功能和细胞成分方面的首要注释分别是调节、蛋白质和细胞内。该基因组将支持未来对古巴鳄的宏观进化、保护和分子研究。
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引用次数: 0
Genome-wide association study of BNT162b2 vaccine-related myocarditis identifies potential predisposing functional areas in Hong Kong adolescents. BNT162b2 疫苗相关心肌炎的全基因组关联研究确定了香港青少年的潜在易感功能区。
Q3 GENETICS & HEREDITY Pub Date : 2024-06-06 DOI: 10.1186/s12863-024-01238-6
Chun Hing She, Hing Wai Tsang, Xingtian Yang, Sabrina Sl Tsao, Clara Sm Tang, Sophelia Hs Chan, Mike Yw Kwan, Gilbert T Chua, Wanling Yang, Patrick Ip

Vaccine-related myocarditis associated with the BNT162b2 vaccine is a rare complication, with a higher risk observed in male adolescents. However, the contribution of genetic factors to this condition remains uncertain. In this study, we conducted a comprehensive genetic association analysis in a cohort of 43 Hong Kong Chinese adolescents who were diagnosed with myocarditis shortly after receiving the BNT162b2 mRNA COVID-19 vaccine. A comparison of whole-genome sequencing data was performed between the confirmed myocarditis cases and a control group of 481 healthy individuals. To narrow down potential genomic regions of interest, we employed a novel clustering approach called ClusterAnalyzer, which prioritised 2,182 genomic regions overlapping with 1,499 genes for further investigation. Our pathway analysis revealed significant enrichment of these genes in functions related to cardiac conduction, ion channel activity, plasma membrane adhesion, and axonogenesis. These findings suggest a potential genetic predisposition in these specific functional areas that may contribute to the observed side effect of the vaccine. Nevertheless, further validation through larger-scale studies is imperative to confirm these findings. Given the increasing prominence of mRNA vaccines as a promising strategy for disease prevention and treatment, understanding the genetic factors associated with vaccine-related myocarditis assumes paramount importance. Our study provides valuable insights that significantly advance our understanding in this regard and serve as a valuable foundation for future research endeavours in this field.

与 BNT162b2 疫苗相关的心肌炎是一种罕见的并发症,在男性青少年中的发病风险更高。然而,遗传因素对这一病症的影响仍不确定。在本研究中,我们对43名在接种BNT162b2 mRNA COVID-19疫苗后不久被诊断为心肌炎的中国香港青少年进行了全面的遗传关联分析。我们对确诊的心肌炎病例和由 481 名健康人组成的对照组进行了全基因组测序数据比较。为了缩小潜在的基因组感兴趣区域,我们采用了一种名为 ClusterAnalyzer 的新型聚类方法,优先选择了与 1,499 个基因重叠的 2,182 个基因组区域进行进一步研究。我们的通路分析表明,这些基因在与心脏传导、离子通道活性、质膜粘附和轴突生成有关的功能方面有明显的富集。这些发现表明,在这些特定功能领域存在潜在的遗传易感性,这可能是导致观察到的疫苗副作用的原因。然而,要证实这些发现,必须通过更大规模的研究来进一步验证。鉴于 mRNA 疫苗作为一种有前景的疾病预防和治疗策略的重要性日益突出,了解与疫苗相关的心肌炎的遗传因素就显得至关重要。我们的研究提供了宝贵的见解,极大地推动了我们在这方面的认识,并为该领域未来的研究工作奠定了宝贵的基础。
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引用次数: 0
Quantifying variations associated with dental caries reveals disparity in effect allele frequencies across diverse populations. 通过量化与龋齿相关的变异,可以发现不同人群中影响等位基因频率的差异。
IF 1.9 Q3 GENETICS & HEREDITY Pub Date : 2024-06-03 DOI: 10.1186/s12863-024-01215-z
Sangram Sandhu, Varun Sharma, Sachin Kumar, Niraj Rai, Pooran Chand

Background: Dental caries (DC) is a multifaceted oral condition influenced by genetic and environmental factors. Recent advancements in genotyping and sequencing technologies, such as Genome-Wide Association Studies (GWAS) have helped researchers to identify numerous genetic variants associated with DC, but their prevalence and significance across diverse global populations remain poorly understood as most of the studies were conducted in European populations, and very few were conducted in Asians specifically in Indians.

Aim: This study aimed to evaluate the genetic affinity of effect alleles associated with DC to understand the genetic relationship between global populations with respect to the Indian context.

Methodology: This present study used an empirical approach in which variants associated with DC susceptibility were selected. These variants were identified and annotated using the GWAS summary. The genetic affinity was evaluated using Fst.

Results: The effect of allele frequencies among different populations was examined, revealing variations in allele distribution. African populations exhibited higher frequencies of specific risk alleles, whereas East Asian and European populations displayed distinct profiles. South Asian populations showed a unique genetic cluster.

Conclusion: Our study emphasises the complex genetic landscape of DC and highlights the need for population-specific research as well as validation of GWAS-identified markers in Indians before defining them as established candidate genes.

背景:龋齿(DC)是一种受遗传和环境因素影响的多方面口腔疾病。基因分型和测序技术的最新进展,如全基因组关联研究(GWAS),帮助研究人员确定了许多与龋齿相关的遗传变异,但由于大多数研究是在欧洲人群中进行的,而在亚洲人,特别是印度人中进行的研究很少,因此人们对这些变异在全球不同人群中的流行率和意义仍然知之甚少:本研究采用经验方法,筛选出与 DC 易感性相关的变体。使用 GWAS 摘要对这些变异进行了识别和注释。使用 Fst 对遗传亲和性进行了评估:对不同人群中等位基因频率的影响进行了研究,揭示了等位基因分布的差异。非洲人群的特定风险等位基因频率较高,而东亚和欧洲人群则表现出不同的特征。南亚人群显示出独特的遗传集群:我们的研究强调了 DC 遗传图谱的复杂性,并强调在将 GWAS 确定的标记物定义为确定的候选基因之前,需要在印度人中进行特定人群研究和验证。
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引用次数: 0
Comparative chloroplast genomics and phylogenetic analysis of Oreomecon nudicaulis (Papaveraceae). Oreomecon nudicaulis(木瓜科)叶绿体比较基因组学和系统发育分析。
Q3 GENETICS & HEREDITY Pub Date : 2024-05-30 DOI: 10.1186/s12863-024-01236-8
Qingbin Zhan, Yalin Huang, Xiaoming Xue, Yunxia Chen

Oreomecon nudicaulis, commonly known as mountain poppy, is a significant perennial herb. In 2022, the species O. nudicaulis, which was previously classified under the genus Papaver, was reclassified within the genus Oreomecon. Nevertheless, the phylogenetic status and chloroplast genome within the genus Oreomecon have not yet been reported. This study elucidates the chloroplast genome sequence and structural features of O. nudicaulis and explores its evolutionary relationships within Papaveraceae. Using Illumina sequencing technology, the chloroplast genome of O. nudicaulis was sequenced, assembled, and annotated. The results indicate that the chloroplast genome of O. nudicaulis exhibits a typical circular quadripartite structure. The chloroplast genome is 153,903 bp in length, with a GC content of 38.87%, containing 84 protein-coding genes, 8 rRNA genes, 38 tRNA genes, and 2 pseudogenes. The genome encodes 25,815 codons, with leucine (Leu) being the most abundant codon, and the most frequently used codon is AUU. Additionally, 129 microsatellite markers were identified, with mononucleotide repeats being the most abundant (53.49%). Our phylogenetic analysis revealed that O. nudicaulis has a relatively close relationship with the genus Meconopsis within the Papaveraceae family. The phylogenetic analysis supported the taxonomic status of O. nudicaulis, as it did not form a clade with other Papaver species, consistent with the revised taxonomy of Papaveraceae. This is the first report of a phylogenomic study of the complete chloroplast genome in the genus Oreomecon, which is a significant genus worldwide. This analysis of the O. nudicaulis chloroplast genome provides a theoretical basis for research on genetic diversity, molecular marker development, and species identification, enriching genetic information and supporting the evolutionary relationships among Papaveraceae.

Oreomecon nudicaulis,俗称山罂粟,是一种重要的多年生草本植物。2022 年,以前被归入 Papaver 属的 O. nudicaulis 被重新归入 Oreomecon 属。然而,Oreomecon 属的系统发育状况和叶绿体基因组尚未见报道。本研究阐明了 O. nudicaulis 的叶绿体基因组序列和结构特征,并探讨了其在罂粟科中的进化关系。利用 Illumina 测序技术,对 O. nudicaulis 的叶绿体基因组进行了测序、组装和注释。结果表明,O. nudicaulis 的叶绿体基因组呈现典型的环状四方结构。叶绿体基因组全长 153,903 bp,GC 含量为 38.87%,包含 84 个编码蛋白质的基因、8 个 rRNA 基因、38 个 tRNA 基因和 2 个假基因。基因组编码 25 815 个密码子,其中亮氨酸(Leu)是含量最高的密码子,最常用的密码子是 AUU。此外,还发现了 129 个微卫星标记,其中单核苷酸重复序列最多(53.49%)。我们的系统进化分析表明,O. nudicaulis 与罂粟科的 Meconopsis 属关系较为密切。系统发生分析支持了 O. nudicaulis 的分类学地位,因为它没有与其他罂粟属物种形成一个支系,这与修订后的罂粟科分类学一致。这是首次报告 Oreomecon 属完整叶绿体基因组的系统发生组学研究,该属是世界上一个重要的属。对 O. nudicaulis 叶绿体基因组的分析为遗传多样性研究、分子标记开发和物种鉴定提供了理论依据,丰富了遗传信息,支持了罂粟科植物之间的进化关系。
{"title":"Comparative chloroplast genomics and phylogenetic analysis of Oreomecon nudicaulis (Papaveraceae).","authors":"Qingbin Zhan, Yalin Huang, Xiaoming Xue, Yunxia Chen","doi":"10.1186/s12863-024-01236-8","DOIUrl":"10.1186/s12863-024-01236-8","url":null,"abstract":"<p><p>Oreomecon nudicaulis, commonly known as mountain poppy, is a significant perennial herb. In 2022, the species O. nudicaulis, which was previously classified under the genus Papaver, was reclassified within the genus Oreomecon. Nevertheless, the phylogenetic status and chloroplast genome within the genus Oreomecon have not yet been reported. This study elucidates the chloroplast genome sequence and structural features of O. nudicaulis and explores its evolutionary relationships within Papaveraceae. Using Illumina sequencing technology, the chloroplast genome of O. nudicaulis was sequenced, assembled, and annotated. The results indicate that the chloroplast genome of O. nudicaulis exhibits a typical circular quadripartite structure. The chloroplast genome is 153,903 bp in length, with a GC content of 38.87%, containing 84 protein-coding genes, 8 rRNA genes, 38 tRNA genes, and 2 pseudogenes. The genome encodes 25,815 codons, with leucine (Leu) being the most abundant codon, and the most frequently used codon is AUU. Additionally, 129 microsatellite markers were identified, with mononucleotide repeats being the most abundant (53.49%). Our phylogenetic analysis revealed that O. nudicaulis has a relatively close relationship with the genus Meconopsis within the Papaveraceae family. The phylogenetic analysis supported the taxonomic status of O. nudicaulis, as it did not form a clade with other Papaver species, consistent with the revised taxonomy of Papaveraceae. This is the first report of a phylogenomic study of the complete chloroplast genome in the genus Oreomecon, which is a significant genus worldwide. This analysis of the O. nudicaulis chloroplast genome provides a theoretical basis for research on genetic diversity, molecular marker development, and species identification, enriching genetic information and supporting the evolutionary relationships among Papaveraceae.</p>","PeriodicalId":72427,"journal":{"name":"BMC genomic data","volume":"25 1","pages":"49"},"PeriodicalIF":0.0,"publicationDate":"2024-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11141030/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141181657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genome sequence of two novel virulent clinical strains of Burkholderia pseudomallei isolated from acute melioidosis cases imported to Israel from India and Thailand. 从印度和泰国输入以色列的急性瓜虫病病例中分离出的两株新型假马利伯克霍尔德氏菌临床毒株的基因组序列。
Q3 GENETICS & HEREDITY Pub Date : 2024-05-23 DOI: 10.1186/s12863-024-01225-x
Inbar Cohen-Gihon, Galia Zaide, Sharon Amit, Iris Zohar, Orna Schwartz, Yasmin Maor, Ofir Israeli, Gal Bilinsky, Ma'ayan Israeli, Shirley Lazar, David Gur, Moshe Aftalion, Anat Zvi, Adi Beth-Din, Erez Bar-Haim, Uri Elia, Ofer Cohen, Emanuelle Mamroud, Theodor Chitlaru

Objective: Burkholderia pseudomallei, the etiological cause of melioidosis, is a soil saprophyte endemic in South-East Asia, where it constitutes a public health concern of high-priority. Melioidosis cases are sporadically identified in nonendemic areas, usually associated with travelers or import of goods from endemic regions. Due to extensive intercontinental traveling and the anticipated climate change-associated alterations of the soil bacterial flora, there is an increasing concern for inadvertent establishment of novel endemic areas, which may expand the global burden of melioidosis. Rapid diagnosis, isolation and characterization of B. pseudomallei isolates is therefore of utmost importance particularly in non-endemic locations.

Data description: We report the genome sequences of two novel clinical isolates (MWH2021 and MST2022) of B. pseudomallei identified in distinct acute cases of melioidosis diagnosed in two individuals arriving to Israel from India and Thailand, respectively. The data includes preliminary genetic analysis of the genomes determining their phylogenetic classification in rapport to the genomes of 131 B. pseudomallei strains documented in the NCBI database. Inspection of the genomic data revealed the presence or absence of loci encoding for several documented virulence determinants involved in the molecular pathogenesis of melioidosis. Virulence analysis in murine models of acute or chronic melioidosis established that both strains belong to the highly virulent class of B. pseudomalleii.

目的:假丝酵母伯克霍尔德氏菌(Burkholderia pseudomallei)是导致美拉德氏病的病原体,它是东南亚地区流行的一种土壤寄生菌,在那里构成了一个高度优先的公共卫生问题。在非流行地区发现的零星美拉伊病例通常与旅行者或来自流行地区的进口商品有关。由于广泛的洲际旅行和预期的气候变化引起的土壤细菌菌群的改变,人们越来越担心会无意中建立新的流行区,这可能会扩大美拉伊病的全球负担。因此,快速诊断、分离和鉴定假丝酵母菌分离物至关重要,尤其是在非流行地区:我们报告了两例新型假丝酵母菌临床分离株(MWH2021 和 MST2022)的基因组序列,这两例分离株是在两名分别从印度和泰国抵达以色列的患者身上发现的。这些数据包括对基因组的初步遗传分析,确定了它们与 NCBI 数据库中记录的 131 株假丝虫基因组的系统发育分类。对基因组数据的检查显示,存在或不存在编码涉及美拉德氏病分子致病机理的几个有记载的毒力决定因子的位点。在小鼠急性或慢性美拉德氏病模型中进行的毒力分析表明,这两种菌株都属于高毒力类假马来疽杆菌。
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引用次数: 0
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BMC genomic data
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