Pub Date : 2024-10-21eCollection Date: 2024-01-01DOI: 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。
{"title":"Phylogenomic Analysis of Dichrocephala benthamii and Comparative Analysis within Tribe Astereae (Asteraceae).","authors":"Hui Chen, Tingyu Li, Xinyu Chen, Xinyi Zheng, Tianmeng Qu, Bo Li, Zhixi Fu","doi":"10.1590/1678-4685-GMB-2023-0340","DOIUrl":"https://doi.org/10.1590/1678-4685-GMB-2023-0340","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495966/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142498597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-11eCollection Date: 2024-01-01DOI: 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.
{"title":"The long-read assembly of Apareiodon sp., a neotropical fish with a ZZ/ZW sex chromosome system.","authors":"Ivan Rodrigo Wolf, Michelle Orane Schemberger, Matheus Azambuja, Fernanda Souza de Oliveira, Viviane Nogaroto, Guilherme Targino Valente, Cesar Martins, Marcelo Ricardo Vicari","doi":"10.1590/1678-4685-GMB-2024-0098","DOIUrl":"10.1590/1678-4685-GMB-2024-0098","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11468460/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142406322","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-30eCollection Date: 2024-01-01DOI: 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.
{"title":"What we know so far and what we can expect next: A molecular investigation of plant parasitism.","authors":"Juliane Karine Ishida, Elaine Cotrim Costa","doi":"10.1590/1678-4685-GMB-2024-0051","DOIUrl":"10.1590/1678-4685-GMB-2024-0051","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11441458/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142344867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-09DOI: 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.
{"title":"Genetic associations with disease in populations with Indigenous American ancestries.","authors":"Lucas Vicuña","doi":"10.1590/1678-4685-gmb-2023-0024","DOIUrl":"https://doi.org/10.1590/1678-4685-gmb-2023-0024","url":null,"abstract":"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.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142217263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-09DOI: 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.
{"title":"Expression profile of inflammasome genes in individuals with Down syndrome.","authors":"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","doi":"10.1590/1678-4685-gmb-2023-0339","DOIUrl":"https://doi.org/10.1590/1678-4685-gmb-2023-0339","url":null,"abstract":"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.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142217262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-02eCollection Date: 2024-01-01DOI: 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.
{"title":"The complete chloroplast genome sequences of three Pedicularis species (Orobanchaceae).","authors":"Mingcheng Wang, Shuqiao Zhang, Lei Zhang","doi":"10.1590/1678-4685-GMB-2024-0010","DOIUrl":"https://doi.org/10.1590/1678-4685-GMB-2024-0010","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142361410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-02eCollection Date: 2024-01-01DOI: 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.
{"title":"Pioneering role of RNA in the early evolution of life.","authors":"Israel Muñoz-Velasco, Adrián Cruz-González, Ricardo Hernández-Morales, José Alberto Campillo-Balderas, Wolfgang Cottom-Salas, Rodrigo Jácome, Alberto Vázquez-Salazar","doi":"10.1590/1678-4685-GMB-2024-0028","DOIUrl":"https://doi.org/10.1590/1678-4685-GMB-2024-0028","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11445735/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142498596","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-02eCollection Date: 2024-01-01DOI: 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。
{"title":"DNA copy number profiles and systems biology connect chromatin remodeling and DNA repair in high-risk neuroblastoma.","authors":"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","doi":"10.1590/1678-4685-GMB-2024-0007","DOIUrl":"10.1590/1678-4685-GMB-2024-0007","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142361409","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-02eCollection Date: 2024-01-01DOI: 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。
{"title":"Accuracy of genotype imputation of a low-density SNP array for the Amazon fish Colossoma macropomum.","authors":"John F G Agudelo, Vito A Mastrochirico-Filho, Baltasar F Garcia, Raquel B Ariede, José M Yáñez, Gustavo M R Valladão, Diogo T Hashimoto","doi":"10.1590/1678-4685-GMB-2023-0364","DOIUrl":"10.1590/1678-4685-GMB-2023-0364","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11445733/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142361408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-02eCollection Date: 2024-01-01DOI: 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.
{"title":"Variability and functional characterization of the Phakopsora pachyrhizi Egh16-like effectors.","authors":"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","doi":"10.1590/1678-4685-GMB-2023-0192","DOIUrl":"10.1590/1678-4685-GMB-2023-0192","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11378017/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}