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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
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
Pioneering role of RNA in the early evolution of life. RNA 在生命早期进化中的先锋作用。
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-2024-0028
Israel Muñoz-Velasco, Adrián Cruz-González, Ricardo Hernández-Morales, José Alberto Campillo-Balderas, Wolfgang Cottom-Salas, Rodrigo Jácome, Alberto Vázquez-Salazar

The catalytic, regulatory and structural properties of RNA, combined with their extraordinary ubiquity in cellular processes, are consistent with the proposal that this molecule played a much more conspicuous role in heredity and metabolism during the early stages of biological evolution. This review explores the pivotal role of RNA in the earliest life forms and its relevance in modern biological systems. It examines current models that study the early evolution of life, providing insights into the primordial RNA world and its legacy in contemporary biology.

RNA 的催化、调控和结构特性,以及它们在细胞过程中无处不在的特殊性,与这种分子在生物进化早期阶段在遗传和新陈代谢中发挥着更为显著作用的说法是一致的。这篇综述探讨了 RNA 在最早生命形式中的关键作用及其与现代生物系统的相关性。它探讨了当前研究生命早期进化的模型,提供了对原始 RNA 世界及其在当代生物学中的遗产的见解。
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引用次数: 0
DNA copy number profiles and systems biology connect chromatin remodeling and DNA repair in high-risk neuroblastoma. DNA拷贝数图谱和系统生物学将高危神经母细胞瘤中的染色质重塑和DNA修复联系起来。
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-2024-0007
Thatyanne Gradowski F da C do Nascimento, Joice de Faria Poloni, Mateus Eduardo de Oliveira Thomazini, Luciane R Cavalli, Selene Elifio-Esposito, Bruno César Feltes

Neuroblastoma (NB) is a solid tumor that accounts for 15% of all pediatric oncological deaths, and much is due to the low response to therapy in relapsed tumors. High-risk NB may present deletions in chromosome 11q, which may be associated with other chromosomal alterations and a poor response to therapy, but this association is still poorly understood. Using a systems biology network approach, we studied three patients with high-risk NB with deleted 11q stage 4 to highlight the connections between treatment resistance and copy number alterations in distinct cases. We built different protein-protein interaction networks for each patient based on protein-coding genes mapped at the cytobands pre- and post-chemotherapy from distinct copy number alterations data. In the post-chemotherapy networks, we identified five common regulatory nodes corresponding to the gained region located in ch17q:BIRC5, BRCA1, PRKCA, SUMO2, andGPS1. A crosslink between DNA damage and chromatin remodeling proteins was also found - a connection still poorly understood in NB. We identified a potential connection between XPB gain and chemoresistance of NB. The findings help elucidate the molecular profiles of high-risk NB with 11q deletion in pre- and post-chemotherapy tumor samples, which may reflect unique profiles in poor response to treatment.

神经母细胞瘤(NB)是一种实体瘤,占儿科肿瘤死亡总数的15%,复发肿瘤对治疗的反应较低是其主要原因。高危NB可能存在11q染色体缺失,这可能与其他染色体改变和治疗反应不佳有关,但这种关联性仍不甚明了。利用系统生物学网络方法,我们研究了三例11q缺失4期的高危NB患者,以突出不同病例中治疗耐药性与拷贝数改变之间的联系。我们基于化疗前后不同拷贝数改变数据在细胞带映射的蛋白编码基因,为每位患者构建了不同的蛋白-蛋白相互作用网络。在化疗后网络中,我们发现了与位于ch17q的增益区相对应的五个共同调控节点:BIRC5、BRCA1、PRKCA、SUMO2和GPS1。我们还发现了 DNA 损伤与染色质重塑蛋白之间的交叉联系--这种联系在 NB 中仍鲜为人知。我们发现了 XPB 增益与 NB 化疗耐药性之间的潜在联系。这些发现有助于阐明化疗前和化疗后肿瘤样本中11q缺失的高危NB的分子特征,这可能反映了对治疗反应差的独特特征。
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引用次数: 0
Accuracy of genotype imputation of a low-density SNP array for the Amazon fish Colossoma macropomum. 低密度 SNP 阵列对亚马逊鱼类 Colossoma macropomum 基因型估算的准确性。
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-2023-0364
John F G Agudelo, Vito A Mastrochirico-Filho, Baltasar F Garcia, Raquel B Ariede, José M Yáñez, Gustavo M R Valladão, Diogo T Hashimoto

In South America, Tambaqui (Colossoma macropomum) stands as the primary target for aquaculture, yet breeding programs for this Amazon native species are in their early stages. While high-density single nucleotide polymorphism (SNP) arrays are pivotal for aquaculture breeding, their costs can be prohibitive for non- or semi-industrial species. To overcome this, a cost-effective approach involves developing low-density SNP arrays followed by genotype imputation to higher densities. In this study, a 1K SNP array for tambaqui was created and validated, offering a balance between SNP quantity and genome representativity. The imputation accuracy from various SNP densities to a medium-density array was evaluated, with the 1K density demonstrating the best trade-off (accuracy of 0.93). This subset was further utilized to construct a commercial array through Agriseq™ targeted genotyping-by-sequencing, validated in 192 DNA samples, affirming its high quality for genotyping tambaqui. The low-density SNP array, with genome-wide coverage and high polymorphism, emerges as an effective tool for exploring genetic variation within diverse populations. Population analyses using the 1K panel proved to be an efficient tool for genetic characterization of sampled broodstocks, making it a valuable resource for genetic improvement programs targeting this Amazon native species.

在南美洲,Tambaqui(Colossoma macropomum)是水产养殖的主要目标,但这一亚马逊本地物种的育种计划仍处于早期阶段。虽然高密度单核苷酸多态性(SNP)阵列对水产养殖育种至关重要,但对于非工业化或半工业化物种来说,其成本可能过高。为了克服这一问题,一种具有成本效益的方法是开发低密度 SNP 阵列,然后将基因型归入更高密度的阵列。本研究创建并验证了用于丹巴魁的 1K SNP 阵列,在 SNP 数量和基因组代表性之间取得了平衡。评估了从不同 SNP 密度到中等密度阵列的归因准确性,其中 1K 密度表现出最佳的权衡(准确性为 0.93)。通过 Agriseq™ 靶向基因分型测序技术,进一步利用该子集构建了一个商业阵列,并在 192 个 DNA 样本中进行了验证,从而肯定了该阵列在坦帕魁基因分型方面的高质量。低密度 SNP 阵列具有全基因组覆盖和高多态性的特点,是探索不同种群遗传变异的有效工具。事实证明,使用 1K 阵列进行种群分析是对采样种群进行遗传特征分析的有效工具,使其成为针对这种亚马逊本地物种的遗传改良计划的宝贵资源。
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引用次数: 0
Variability and functional characterization of the Phakopsora pachyrhizi Egh16-like effectors. Phakopsora pachyrhizi Egh16 类效应器的变异性和功能特征。
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-2023-0192
Fernanda Machado Castanho, Beatriz Lorena Comin da Costa, Valéria Yukari Abe, Alessandra Yokoyama, Luana Mieko Darben, Liliane Santana Oliveira, Everton Geraldo Capote Ferreira, Ivani de Oliveira Negrão Lopes, Mayra Costa da Cruz Gallo de Carvalho, Maria Isabel Balbi-Peña, Francismar Corrêa Marcelino-Guimarães

Effector proteins in Phakopsora pachyrhizi (Pp), the causative agent of Asian Soybean rust, are involved in the infection process. A previous study identified a rust effector Egh16-like family based expression profile during the interaction with soybean. Herein, we scrutinized available the Pp genomes to validate the predicted Egh16-like family of Pp and identify new family members. We described 22 members of the Egh16-like gene family in the Pp MT2006 genome and 18 in the UFV02 and K8108 genomes, highlighting a family expansion. Family members have a small signal peptide, conserved cysteine-rich R/Y/FxC motifs in the C-terminal region, and a virulence-related Egh16-like domain and were able to suppress PTI related responses in Benthamiana. Phylogenetic analysis placed the family members into eight clusters, with members induced during the early stages of rust infection. Members of clusters VI and VII are present in different copy numbers in Pp genomes and suppressed PAMP-related responses.

亚洲大豆锈病病原 Phakopsora pachyrhizi(Pp)的效应蛋白参与了感染过程。之前的一项研究确定了锈病效应蛋白 Egh16-like 家族在与大豆相互作用过程中的表达谱。在此,我们仔细研究了现有的 Pp 基因组,以验证预测的 Pp Egh16 样家族并鉴定新的家族成员。我们在 Pp MT2006 基因组中描述了 22 个 Egh16 样基因家族成员,在 UFV02 和 K8108 基因组中描述了 18 个成员,突显了家族的扩展。家族成员有一个小信号肽,C端区域有保守的富含半胱氨酸的R/Y/FxC基序,以及一个与毒力相关的Egh16-like结构域,并能抑制Benthamiana中与PTI相关的反应。系统发育分析将该家族成员分为八个簇,其成员在锈病感染的早期阶段被诱导。簇 VI 和簇 VII 的成员以不同的拷贝数存在于 Pp 基因组中,并抑制与 PAMP 相关的反应。
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