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Variants in inflammation-related genes influence the outcomes of physical exercise programs: A longitudinal study in Brazilian adolescents with overweight and obesity. 炎症相关基因的变异影响体育锻炼项目的结果:一项对巴西超重和肥胖青少年的纵向研究。
IF 1.7 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-11-22 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0211
Ana Cláudia M B Gomes Torres, Neiva Leite, Ricardo Lehtonen Rodrigues de Souza, Juliana Pizzi, Gerusa Eisfeld Milano-Gai, Leilane Lazarotto, Luciane Viater Tureck, Lupe Furtado-Alle

The expansion of adipose tissue, characteristic of obesity, releases inflammatory cytokines, leading to metabolic disorders. Physical activity, on the other hand, promotes fat loss and changes inflammatory profile. This study aimed to investigate the associations of 20 gene variants (TLR2, TLR4, IL1B, IL6, NFKB1, TNF, NFKBIA, NLRC4, CARD8 and NEK7) with anthropometric and biochemical changes induced by physical exercise programs. Thus, 58 children and adolescents participated of the 12-week exercise programs. Parameters were collected before and after programs: body mass index, body fat percentage, LDL-C, HDL-C, triglycerides, total cholesterol, insulin, glucose, HOMA-IR and QUICKI. Changes in these parameters were calculated (final - initial measurements) for subsequent analyses. Linear regression analyses were performed to investigate associations between genotypes and changes in the analyzed parameters. We found associations between 14 variants in nine genes with anthropometrical and biochemical outcomes. Observing the distribution of the sample, the groups of individuals who responded less in relation to body fat and TG levels concentrated the highest scores of polygenic indexes as a result of a greater number of risk variants. In conclusion, some genotypes related to the inflammatory profile provided less favorable anthropometrical and biochemical outcomes in response to physical exercise programs.

脂肪组织的扩张,肥胖的特征,释放炎症细胞因子,导致代谢紊乱。另一方面,体育活动可以促进脂肪的减少和炎症的改变。本研究旨在探讨20个基因变异(TLR2、TLR4、IL1B、IL6、NFKB1、TNF、NFKBIA、NLRC4、CARD8和NEK7)与体育锻炼引起的人体测量和生化变化的关系。因此,58名儿童和青少年参加了为期12周的锻炼计划。收集节目前后的参数:体重指数、体脂率、LDL-C、HDL-C、甘油三酯、总胆固醇、胰岛素、葡萄糖、HOMA-IR和QUICKI。计算这些参数的变化(最终-初始测量)用于后续分析。采用线性回归分析研究基因型与被分析参数变化之间的关系。我们发现9个基因的14个变异与人体测量学和生化结果之间存在关联。观察样本的分布,那些对体脂和甘油三酯水平反应较弱的个体,由于有更多的风险变异,多基因指数得分最高。总之,一些与炎症相关的基因型在对体育锻炼计划的反应中提供了不太有利的人体测量和生化结果。
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引用次数: 0
Erratum: From bench to in silico and backwards: What have we done on genetics of recurrent pregnancy loss and implantation failure and where should we go next? 勘误:从工作台到硅学,再从硅学到工作台:我们在复发性妊娠失败和植入失败的遗传学方面做了哪些工作?
IF 1.7 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-11-22 DOI: 10.1590/1678-4685-GMB-2023-0127er

[This corrects the article doi: 10.1590/1678-4685-GMB-2023-0127].

[此处更正了文章 doi:10.1590/1678-4685-GMB-2023-0127]。
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引用次数: 0
Phylogenomic Analysis of Dichrocephala benthamii and Comparative Analysis within Tribe Astereae (Asteraceae). Dichrocephala benthamii 的系统发生组分析和菊科(Asteraceae)内的比较分析。
IF 1.7 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-10-21 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0340
Hui Chen, Tingyu Li, Xinyu Chen, Xinyi Zheng, Tianmeng Qu, Bo Li, Zhixi Fu

Dichrocephala benthamii C. B. Clarke has long been used as traditional Chinese medicine. However, the chloroplast (cp) genome of D. benthamii is poorly understood so far. In this study, we sequenced and analyzed the cp genome of D. benthamii. The results showed that the cp genome is 152,350 bp in length, with a pair of inverted repeat regions (IRa and IRb, each 24,982 bp), a large single-copy (LSC) region comprising 84,136 bp, and a small single-copy (SSC) region comprising 18,250 bp. The GC content of the cp genome was 37.3%. A total of 134 genes were identified, including 87 protein-coding genes (CDS), 38 tRNA genes, 8 rRNA genes, and 1 pseudogene (ycf1). Expansion or contraction of IR regions were detected in D. benthamii and other species of the tribe Astereae. Additionally, our analyses showed the types of sequence repeats and the highly variable regions discovered by analyzing the border regions, sequence divergence, and hot spots. The phylogenetic analysis revealed D. benthamii is the basal group of Astereae. The results of this study will be a significant contribution to the genetics and species identification related to D. benthamii.

Dichrocephala benthamii C. B. Clarke 长期以来一直被用作传统中药。然而,迄今为止,人们对本草纲目的叶绿体(cp)基因组了解甚少。在这项研究中,我们对大腹便便草的 cp 基因组进行了测序和分析。结果显示,cp基因组全长152,350 bp,有一对倒位重复区(IRa和IRb,各24,982 bp),一个由84,136 bp组成的大单拷贝区(LSC)和一个由18,250 bp组成的小单拷贝区(SSC)。cp 基因组的 GC 含量为 37.3%。共鉴定出 134 个基因,包括 87 个蛋白质编码基因(CDS)、38 个 tRNA 基因、8 个 rRNA 基因和 1 个假基因(ycf1)。在 D. benthamii 和 Astereae 家族的其他物种中发现了 IR 区域的扩展或收缩。此外,我们的分析还显示了序列重复的类型,以及通过分析边界区域、序列分歧和热点发现的高变异区域。系统进化分析表明,D. benthamii是Astereae的基干类群。本研究的结果将对与 D. benthamii 相关的遗传学和物种鉴定做出重要贡献。
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引用次数: 0
The long-read assembly of Apareiodon sp., a neotropical fish with a ZZ/ZW sex chromosome system. 具有 ZZ/ZW 性染色体系统的新热带鱼 Apareiodon sp.
IF 1.7 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-10-11 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2024-0098
Ivan Rodrigo Wolf, Michelle Orane Schemberger, Matheus Azambuja, Fernanda Souza de Oliveira, Viviane Nogaroto, Guilherme Targino Valente, Cesar Martins, Marcelo Ricardo Vicari

Neotropical fishes emerge as an extremely diverse group of vertebrates where genomic strategies to evaluate structural and functional features are still beginning. Here, we present a second draft genome of Apareiodon sp. (2n=54, ZZ/ZW), adding PacBio technology whole genome sequencing, and assembling by combining two technologies (long and short reads). Using a detailed strategy for genome assembly with fish genomes of Pygocentrus nattereri, Carassius auratus, and Astyanax mexicanus as references, the final assembly of the Apareiodon sp. genome generated 93 scaffolds, an N50 of 37,200,078 bases, and a size estimate considering 28 scaffolds (26 autosomes+ZW) of ~945 Mb. In Apareiodon sp., this second genome draft confirmed that ~36% of the genome is composed of repetitive DNA. Furthermore, the new draft genome has improved genomic quality assessments, allowing the annotation of 36,290 genes and 15,683 proteins, which presented similarities to reference genomes. The second draft genome of Apareiodon sp. will be useful for research on integrative cytogenetic and genomic data. It will open perspectives for analyzing sex-determining genes in Neotropical fish with a ZZ/ZW sex chromosome system.

新热带鱼类是一个极其多样化的脊椎动物群体,评估其结构和功能特征的基因组策略仍在起步阶段。在这里,我们展示了 Apareiodon sp.(2n=54,ZZ/ZW)的第二个基因组草案,其中加入了 PacBio 技术的全基因组测序,并结合了两种技术(长读数和短读数)进行组装。使用以 Pygocentrus nattereri、Carassius auratus 和 Astyanax mexicanus 的鱼类基因组为参考的详细基因组组装策略,Apareiodon sp.基因组的最终组装产生了 93 个脚架,N50 为 37,200,078 个碱基,考虑到 28 个脚架(26 个常染色体+ZW),估计大小约为 945 Mb。在 Apareiodon sp.中,第二个基因组草案证实约 36% 的基因组由重复 DNA 组成。此外,新的基因组草案还改进了基因组质量评估,对 36,290 个基因和 15,683 个蛋白质进行了注释,这些注释与参考基因组相似。Apareiodon sp.的第二个基因组草案将有助于细胞遗传学和基因组数据的综合研究。它将为分析具有 ZZ/ZW 性染色体系统的新热带鱼的性别决定基因开辟新的前景。
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引用次数: 0
What we know so far and what we can expect next: A molecular investigation of plant parasitism. 我们目前所知道的和我们可以期待的下一步:植物寄生的分子研究。
IF 1.7 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-09-30 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2024-0051
Juliane Karine Ishida, Elaine Cotrim Costa

The review explores parasitic plants' evolutionary success and adaptability, highlighting their widespread occurrence and emphasizing the role of an invasive organ called haustorium in nutrient acquisition from hosts. It discusses the genetic and physiological adaptations that facilitate parasitism, including horizontal gene transfer, and the impact of environmental factors like climate change on these relationships. It addresses the need for further research into parasitic plants' genomes and interactions with their hosts to better predict environmental changes' impacts.

这篇综述探讨了寄生植物在进化过程中取得的成功和适应性,重点介绍了寄生植物的广泛分布,并强调了一种名为寄主的入侵器官在从寄主获取营养方面的作用。它讨论了促进寄生的遗传和生理适应性,包括水平基因转移,以及气候变化等环境因素对这些关系的影响。报告指出需要进一步研究寄生植物的基因组及其与寄主的相互作用,以便更好地预测环境变化的影响。
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引用次数: 0
Lack of genotoxicity of iron oxide maghemite (γ-Fe2O3) and magnetite (Fe3O4) nanoparticles to Oreochromis niloticus after acute exposures. 氧化铁磁铁矿(γ-Fe2O3)和磁铁矿(Fe3O4)纳米粒子在急性暴露后对裸鲤无遗传毒性。
IF 1.7 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-09-20 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB2023-0330
Maria Luiza Fascineli, Paolin Rocio Cáceres-Vélez, Willie Oliveira Pinheiro, Sacha Braun Chaves, Marcelo Henrique Sousa, Wilson Sacchi Peternella, Frederico Hillesheim Horst, Michele de Castro Fernandes, Wania Guimarães, Ricardo Bentes Azevedo, Cesar Koppe Grisolia

Iron oxide nanoparticles (FeO-NPs) are widely used in scientific and technological fields. Environmental concerns have been raised about residual FeO-NPs levels as their toxicity and bioaccumulative potential are not well understood. Oreochromis niloticus were exposed to nanoparticles of γ-Fe2O3 and Fe3O4. Micro-CT 3D image and grayscale graphic assessments revealed the accumulation of radiopaque material in the digestive tract of fish exposed to FeO-NPs. Histological analysis showed the presence of such NPs in the hepatopancreas, gills, kidneys, and muscles. No genotoxicity occurred, through micronucleus test and comet assay in peripheral erythrocytes. Body clearance was confirmed by iron-content reduction in organisms exposed to FeO-NPs after recovery period. No tissue injuries were observed in the exposed animals which may be attributed to the absence or low toxicity of iron oxide nanoparticles under the study conditions. O. niloticus showed tolerance to sublethal exposures to FeO-NPs.

氧化铁纳米粒子(FeO-NPs)被广泛应用于科学和技术领域。由于人们对其毒性和生物累积潜力还不甚了解,因此对残留的 FeO-NPs 含量引起了环境问题的关注。将裸鲤暴露于 γ-Fe2O3 和 Fe3O4 纳米粒子中。显微 CT 3D 图像和灰度图形评估显示,暴露于 FeO-NPs 的鱼类消化道中积累了不透射线的物质。组织学分析表明,在肝胰脏、鳃、肾脏和肌肉中存在这种 NPs。通过对外周血红细胞进行微核试验和彗星试验,没有发现遗传毒性。在恢复期后,接触过 FeO-NPs 的生物体内的铁含量减少,证实了体内的清除率。接触纳米氧化铁颗粒的动物未发现组织损伤,这可能是因为在研究条件下纳米氧化铁颗粒没有毒性或毒性较低。尼罗河鱼对亚致死接触氧化铁-NPs表现出耐受性。
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引用次数: 0
Expression of the C-allele of intronic rs8192675 in SLC2A2 is associated with improved glucose response to metformin. SLC2A2 内含子 rs8192675 的 C-等位基因表达与改善葡萄糖对二甲双胍的反应有关。
IF 1.7 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-09-20 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0281
Wanjun Wang, Suying Chen, Yilei Jiang, Jianhong Ji, Ruochen Cong

Glucose is a critical nutrient for energy metabolism. The SLC2A2 gene is essential for glucose sensing and homeostasis, as it encodes the facilitated glucose transporter GLUT2. During diabetes treatment, the C-allele of rs8192675 in SLC2A2 has been found to regulate the action of metformin and reduce the absolute level of HbA1c more effectively than the T-allele. In this study, stable HEK293T cell lines carrying the CC, CT, and TT genotypes of rs8192675 in SLC2A2 were generated using CRISPR/Cas9-mediated genome editing. GLUT2 mRNA and protein levels were elevated in cell clones with the TC genotype compared to those with the CC genotype but were reduced relative to the TT genotype. Additionally, high concentrations of glucose or fructose induced more GLUT2 protein production in CT-genotype cells than that induced in CC-genotype cells, yet less than that induced in TT-genotype cells. Metformin induced a greater increase in GLUT2 expression and a smaller increase in activated AMPK protein expression in CC-genotype cells than those induced in TT-genotype cells, resulting in a remarkable reduction in activated mTOR and S6 levels. This study directly supports the biological mechanism linking the C-allele of rs8192675 with improved treatment outcomes in metformin therapy for diabetes.

葡萄糖是能量代谢的重要营养物质。SLC2A2 基因编码促进葡萄糖转运体 GLUT2,对葡萄糖的感知和平衡至关重要。在糖尿病治疗过程中,人们发现 SLC2A2 基因中 rs8192675 的 C 基因等位基因比 T 基因等位基因能更有效地调节二甲双胍的作用并降低 HbA1c 的绝对水平。在这项研究中,利用 CRISPR/Cas9 介导的基因组编辑技术生成了携带 SLC2A2 中 rs8192675 的 CC、CT 和 TT 基因型的稳定 HEK293T 细胞系。与 CC 基因型的细胞克隆相比,TC 基因型的细胞克隆中 GLUT2 mRNA 和蛋白质水平升高,但与 TT 基因型的细胞克隆相比,GLUT2 mRNA 和蛋白质水平降低。此外,高浓度葡萄糖或果糖在CT基因型细胞中诱导产生的GLUT2蛋白多于在CC基因型细胞中诱导产生的GLUT2蛋白,但少于在TT基因型细胞中诱导产生的GLUT2蛋白。与 TT 基因型细胞相比,二甲双胍在 CC 基因型细胞中诱导的 GLUT2 表达量增加较多,而活化的 AMPK 蛋白表达量增加较少,导致活化的 mTOR 和 S6 水平显著降低。这项研究直接证明了 rs8192675 的 C 基因等位基因与改善二甲双胍治疗糖尿病疗效之间的生物学机制。
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引用次数: 0
Genetic associations with disease in populations with Indigenous American ancestries. 美洲原住民血统人群中疾病的遗传关联。
IF 2.1 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-09-09 DOI: 10.1590/1678-4685-gmb-2023-0024
Lucas Vicuña
The genetic architecture of complex diseases affecting populations with Indigenous American ancestries is poorly understood due to their underrepresentation in genomics studies. While most of the genetic diversity associated with disease trait variation is shared among worldwide populations, a fraction of this component is expected to be unique to each continental group, including Indigenous Americans. Here, I describe the current state of knowledge from genome-wide association studies on Indigenous populations, as well as non-Indigenous populations with partial Indigenous ancestries from the American continent, focusing on disease susceptibility and anthropometric traits. While some studies identified risk alleles unique to Indigenous populations, their effects on trait variation are mostly small. I suggest that the associations rendered by many inter-population studies are probably inflated due to the absence of socio-cultural-economic covariates in the association models. I encourage the inclusion of admixed individuals in future GWAS studies to control for inter-ancestry differences in environmental factors. I suggest that some complex diseases might have arisen as trade-off costs of adaptations to past evolutionary selective pressures. Finally, I discuss how expanding panels with Indigenous ancestries in GWAS studies is key to accurately assess genetic risk in populations from the American continent, thus decreasing global health disparities.
由于美国原住民在基因组学研究中的代表性不足,人们对影响美国原住民人群的复杂疾病的基因结构知之甚少。虽然与疾病性状变异相关的遗传多样性大部分是全球人群共有的,但其中一部分预计是包括美国原住民在内的各大陆群体所独有的。在此,我将介绍对美洲大陆土著居民以及有部分土著血统的非土著居民进行的全基因组关联研究的知识现状,重点是疾病易感性和人体测量特征。虽然一些研究发现了土著居民特有的风险等位基因,但它们对性状变异的影响大多很小。我认为,由于关联模型中缺乏社会文化经济协变量,许多种群间研究得出的关联可能被夸大了。我鼓励在未来的 GWAS 研究中纳入混血个体,以控制环境因素的种群间差异。我认为,一些复杂疾病的出现可能是适应过去进化选择性压力的权衡代价。最后,我讨论了在 GWAS 研究中扩大原住民祖先的研究小组如何成为准确评估美洲大陆人群遗传风险的关键,从而减少全球健康差异。
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引用次数: 0
Expression profile of inflammasome genes in individuals with Down syndrome. 唐氏综合征患者炎症小体基因的表达谱。
IF 2.1 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-09-09 DOI: 10.1590/1678-4685-gmb-2023-0339
Juliana Vieira de Barros Arcoverde,Carla Fernandes Dos Santos,Maria Cecília Magalhães Luckwu,Raysa Samanta Moraes Laranjeira,Aldianne Milene Dos Santos Barbosa,Thays Maria Costa de Lucena,Jaqueline de Azevêdo Silva,Neide Santos
Down syndrome (DS), affecting 1 in 700 live births, is the most prevalent chromosomal disorder among newborns. Recognizable by classical clinical features, patients with DS are susceptible to various immunological misbalances. Inflammasome is (mis)activated in several immune-mediated diseases, however studies on individuals with DS are lacking. The present study evaluated the gene expression of NLRP1, NLRP3 and IL-1β in individuals with DS, aiming to understand their susceptibility to immune-mediated diseases. In addition, we assessed whether the individuals with DS present a differential inflammatory response after in vitro infection using PBMCs. For the gene expression assay, 20 individuals with DS and 15 healthy individuals for the control group (CT) were included, while the in vitro infection assay included 10 subjects. mRNA levels from individuals with DS group showed 1.9-fold change (FC) downregulation for NLRP1 (p=0.0001), but no differences for NLRP3 and IL1β. We did not observe significant differences between lipopolysaccharide (LPS)-treated and untreated cells in our in vitro assays. The differential expression of NLRP1 in individuals with DS suggests a potential association with susceptibility to the development of immune-mediated diseases, but further analysis is needed to confirm this relationship.
每 700 个活产婴儿中就有 1 个患有唐氏综合征(DS),它是新生儿中最常见的染色体疾病。唐氏综合征患者具有典型的临床特征,容易出现各种免疫失调。炎症小体在多种免疫介导疾病中被错误激活,但对 DS 患者的研究还很缺乏。本研究评估了 DS 患者 NLRP1、NLRP3 和 IL-1β 的基因表达,旨在了解他们对免疫介导疾病的易感性。此外,我们还利用 PBMCs 评估了 DS 患者在体外感染后是否会出现不同的炎症反应。在基因表达检测中,对照组(CT)包括20名DS患者和15名健康人,体外感染检测包括10名受试者。DS患者组的mRNA水平显示NLRP1下调了1.9倍(FC)(P=0.0001),但NLRP3和IL1β没有差异。在体外试验中,我们没有观察到脂多糖(LPS)处理细胞与未处理细胞之间的明显差异。NLRP1在DS患者中的不同表达表明,它可能与免疫介导疾病的易感性有关,但还需要进一步的分析来证实这种关系。
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引用次数: 0
The complete chloroplast genome sequences of three Pedicularis species (Orobanchaceae). 三个 Pedicularis 物种(大戟科)的完整叶绿体基因组序列。
IF 1.7 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-09-02 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2024-0010
Mingcheng Wang, Shuqiao Zhang, Lei Zhang

Pedicularis L., a generally bothersome genus of hemiparasitic plants, is primarily native to southwestern China. The phylogenetic relationship and evolutionary history of this genus have not yet been fully resolved. In this study, we sequenced and assembled chloroplast genomes of three Pedicularis species, P. chinensis, P. melampyriflora, and P. striata using high-throughput Illumina sequencing. The assembled plastomes were 142,059 bp (P. chinensis) to 152,146 bp (P. striata) in size, containing 110 (P. chinensis) to 117 (P. striata) genes. Moreover, we identified 13-15 pseudogenes within the three plastomes, nine of which were pseudogenized in all three species. The three plastomes exhibited a similar codon usage pattern. Moreover, the plastomes contained abundant simple sequence repeats and long repeats, which showed slight variations between the three species. A maximum likelihood analysis was performed to elucidate the phylogenetic positions of the three species within the Pedicularis genus. The plastomes presented in our study can be used as valuable genomic resources for further genetic and genomic studies of the Pedicularis genus.

Pedicularis L.是一种普遍令人讨厌的半寄生植物属,主要原产于中国西南部。该属的系统发育关系和进化历史尚未完全清楚。在这项研究中,我们利用高通量 Illumina 测序技术,对三种水稻叶绿体基因组进行了测序和组装,这三种叶绿体基因组分别是水稻叶绿体基因组(P. chinensis)、水稻叶绿体基因组(P. melampyriflora)和水稻叶绿体基因组(P. striata)。组装的质粒大小为 142,059 bp(P. chinensis)至 152,146 bp(P. striata),包含 110 个(P. chinensis)至 117 个(P. striata)基因。此外,我们还在这三个质体中发现了 13-15 个假基因,其中 9 个在所有三个物种中都是假基因。三个质粒表现出相似的密码子使用模式。此外,质粒含有丰富的简单序列重复和长重复,这在三个物种之间略有不同。通过最大似然法分析,阐明了三个物种在Pedicularis属中的系统发育位置。我们的研究中提出的质粒可作为宝贵的基因组资源,用于进一步的Pedicularis属遗传和基因组研究。
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引用次数: 0
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