{"title":"Erratum: Investigating the shared genetic architecture between breast and ovarian cancers.","authors":"","doi":"10.1590/1678-4685-GMB-2023-0181er","DOIUrl":"10.1590/1678-4685-GMB-2023-0181er","url":null,"abstract":"<p><p>[This corrects the article doi: 10.1590/1678-4685-GMB-2023-0181].</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 3","pages":"e20230181er"},"PeriodicalIF":1.7,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11331563/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141999754","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}
Lucas Alexandre Barbosa de Oliveira Santos, Tales de Albuquerque Leite Feitosa, Marcus Vinicius de Aragão Batista
{"title":"Comparative structural studies on Bovine papillomavirus E6 oncoproteins: Novel insights into viral infection and cell transformation from homology modeling and molecular dynamics simulations.","authors":"Lucas Alexandre Barbosa de Oliveira Santos, Tales de Albuquerque Leite Feitosa, Marcus Vinicius de Aragão Batista","doi":"10.1590/1678-4685-GMB-2023-0346","DOIUrl":"10.1590/1678-4685-GMB-2023-0346","url":null,"abstract":"<p><p>Bovine papillomavirus (BPV) infects cattle cells worldwide, leading to hyperproliferative lesions and the potential development of cancer, driven by E5, E6, and E7 oncoproteins along with other cofactors. E6 oncoprotein binds experimentally to various proteins, primarily paxillin and MAML1, as well as hMCM7 and CBP/p300. However, the molecular and structural mechanisms underlying BPV-induced malignant transformation remain unclear. Therefore, we have modeled the E6 oncoprotein structure from non-oncogenic BPV-5 and compared them with oncogenic BPV-1 to assess the relationship between structural features and oncogenic potential. Our analysis elucidated crucial structural aspects of E6, highlighting both conserved elements across genotypes and genotype-specific variations potentially implicated in the oncogenic process, particularly concerning primary target interactions. Additionally, we predicted the location of the hMCM7 binding site on the N-terminal of BPV-5 E6. This study enhances our understanding of the structural characteristics of BPV E6 oncoproteins and their interactions with host proteins, clarifying structural differences and similarities between high and low-risk BPVs. This is important to understand better the mechanisms involved in cell transformation in BPV infection, which could be used as a possible target for therapy.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 3","pages":"e20230346"},"PeriodicalIF":1.7,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11320664/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141970949","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}
Glenda Nicioli da Silva, Isadora Oliveira Ansaloni Pereira, Ana Paula Braga Lima, Tamires Cunha Almeida, André Luiz Ventura Sávio, Renato Prado Costa, Kátia Ramos Moreira Leite, Daisy Maria Fávero Salvadori
{"title":"Combined expression of JHDM1D/KDM7A gene and long non-coding RNA RP11-363E7.4 as a biomarker for urothelial cancer prognosis.","authors":"Glenda Nicioli da Silva, Isadora Oliveira Ansaloni Pereira, Ana Paula Braga Lima, Tamires Cunha Almeida, André Luiz Ventura Sávio, Renato Prado Costa, Kátia Ramos Moreira Leite, Daisy Maria Fávero Salvadori","doi":"10.1590/1678-4685-GMB-2023-0265","DOIUrl":"10.1590/1678-4685-GMB-2023-0265","url":null,"abstract":"<p><p>Bladder cancer is the tenth most frequently diagnosed cancer globally. Classification of high- or low-grade tumors is based on cytological differentiation and is an important prognostic factor. LncRNAs regulate gene expression and play critical roles in the occurrence and development of cancer, however, there are few reports on their diagnostic value and co-expression levels with genes, which may be useful as specific biomarkers for prognosis and therapy in bladder cancer. Thus, we performed a marker lesion study to investigate whether gene/lncRNA expression in urothelial carcinoma tissues may be useful in differentiating low-grade and high-grade tumors. RT-qPCR was used to evaluate the expression of the JHDM1D gene and the lncRNAs CTD-2132N18.2, SBF2-AS1, RP11-977B10.2, CTD-2510F5.4, and RP11-363E7.4 in 20 histologically diagnosed high-grade and 10 low-grade tumors. A protein-to-protein interaction network between genes associated with JHDM1D gene was constructed using STRING website. The results showed a moderate (positive) correlation between CTD-2510F5.4 and CTD2132N18.2. ROC curve analyses showed that combined JHDM1D and RP11-363E7.4 predicted tumor grade with an AUC of 0.826, showing excellent accuracy. In conclusion, the results indicated that the combined expression of JHDM1D and RP11-363E7.4 may be a prognostic biomarker and a promising target for urothelial tumor therapy.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 3","pages":"e20230265"},"PeriodicalIF":1.7,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11320665/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141970948","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}
Samara Socorro Silva Pereira, Irene Plaza Pinto, Victor Cortázio do Prado Santos, Rafael Carneiro Silva, Emília Oliveira Alves Costa, Alex Silva da Cruz, Aparecido Divino da Cruz, Cláudio Carlos da Silva, Lysa Bernardes Minasi
{"title":"Analysis of parental origin of de novo pathogenic CNVs in patients with intellectual disability.","authors":"Samara Socorro Silva Pereira, Irene Plaza Pinto, Victor Cortázio do Prado Santos, Rafael Carneiro Silva, Emília Oliveira Alves Costa, Alex Silva da Cruz, Aparecido Divino da Cruz, Cláudio Carlos da Silva, Lysa Bernardes Minasi","doi":"10.1590/1678-4685-GMB-2023-0313","DOIUrl":"10.1590/1678-4685-GMB-2023-0313","url":null,"abstract":"<p><p>Chromosomal Microarray Analysis (CMA) has increased the comprehension of the mechanisms of copy number variation (CNV) formation, classification of these rearrangements, type of recurrence, and its origin, and has also been a powerful approach to identifying CNVs in individuals with intellectual disability. The aim of this study was to establish the parental origin of de novo pathogenic CNV in a cohort of patients with intellectual disability from the public health system of Goiás-Brazil. CMA was done in 76 trios and we identified 15 de novo pathogenic CNVs in 12 patients with intellectual disability. In a total of 15 de novo pathogenic CNV, 60% were derived from the maternal germline and 40% from the paternal germline. CNV flanked by low copy repeats (LCR) were identified in 46.7% and most of them were of maternal origin. No significant association was observed between paternal age and the mutation rate of de novo CNVs. The presence of high-identity LCRs increases the occurrence of CNV formation mediated by non-allelic homologous recombination and the majority of paternal CNVs are non-recurrent. The mechanism of formation of these CNV may have been by microhomology-mediated break-induced replication or non-homologous end joining.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 3","pages":"e20230313"},"PeriodicalIF":1.7,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11320663/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141970947","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}
Jean Carlo Pedroso de Oliveira, Gustavo Sebastián Cabanne, Fabrício Rodrigues Santos
{"title":"Phylogenomics of the gray-breasted sabrewing (Campylopterus largipennis) species complex in the Amazonia and Cerrado biomes.","authors":"Jean Carlo Pedroso de Oliveira, Gustavo Sebastián Cabanne, Fabrício Rodrigues Santos","doi":"10.1590/1678-4685-GMB-2023-0331","DOIUrl":"10.1590/1678-4685-GMB-2023-0331","url":null,"abstract":"<p><p>The Neotropics are one of the most biodiverse regions of the world, where environmental dynamics, climate and geology resulted in a complex diversity of fauna and flora. In such complex and heterogeneous environments, widely distributed species require deep investigation about their biogeographic history. The gray-breasted sabrewing hummingbird Campylopterus largipennis is a species complex that occurs in forest and open ecosystems of South America, including also high-altitude grasslands. It has been recently split into four distinct species distributed in Amazonia (rainforest) and Cerrado (savanna) biomes with boundaries marked by ecological barriers. Here, we investigated the evolutionary dynamics of population lineages within this neotropical taxon to elucidate its biogeographical history and current lineage diversity. We used a reduced-representation sequencing approach to perform fine-scale population genomic analyses of samples distributed throughout Amazonia and Cerrado localities, representing all four recently recognized species. We found a deep genetic structure separating species from both biomes, and a more recent divergence between species within each biome and from distinct habitats. The population dynamics through time was shown to be concordant with known vicariant events, isolation by distance, and altitudinal breaks, where the Amazon River and the Espinhaço Mountain Range worked as important barriers associated to speciation.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 3","pages":"e20230331"},"PeriodicalIF":1.7,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11308382/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141916542","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}
{"title":"Genetic and epigenetic landscape of early-onset oral squamous cell carcinoma: Insights of genomic underserved and underrepresented populations.","authors":"Daniela Adorno-Farias, Sebastián Morales-Pisón, Guilherme Gischkow-Rucatti, Sonia Margarit, Ricardo Fernández-Ramires","doi":"10.1590/1678-4685-GMB-2024-0036","DOIUrl":"10.1590/1678-4685-GMB-2024-0036","url":null,"abstract":"<p><p>Oral squamous cell carcinoma (OSCC) has a poor prognosis and the treatment employed generates significant physical deformity in patients. In recent years, an increase in the incidence of cases of OSCC has been observed in adult patients up to 45 years old in several genetic underrepresented and underserved countries. The increase in OSCC cases in young people is very relevant because it shows that OSCC does not make exceptions and hereditarily must play an important role. This fact has not been associated with an evident biological basis, and a large majority of these patients do not present the classic principal risk factors association. OSCC is the result of accumulation of genetic and epigenetic alterations and this information is still fragmented in the literature, mainly in the young group. Conducting studies with a comprehensive analysis of genetic and epigenetic data is crucial, to provide greater understanding of the underlying biology of OSCC, because this information can be decisive to determine targets for therapeutic treatment. We review the main germline and somatic aspects of genetic and genomic variation in OSCC considering the absence of genomic data from developing countries such as Chile and the rest of Hispano-America.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47Suppl 1 Suppl 1","pages":"e20240036"},"PeriodicalIF":1.7,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11309523/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141906390","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}
Adjanny Estela Santos de Souza, Caio Henrique Silva da Silva, Rita de Cássia Silva de Oliveira, Ana Paula Araújo Guimarães, Aylla Núbia Lima Martins da Silva, Isabela Guerreiro Diniz, Haiala Soter Silva de Oliveira, Diego Sarmento de Sousa, Fernanda Andreza de Pinho Lott Figueiredo, Greice de Lemos Cardoso Costa, João Farias Guerreiro
{"title":"Investigation of genetic markers associated to type 2 diabetes mellitus in Santarém-Pará.","authors":"Adjanny Estela Santos de Souza, Caio Henrique Silva da Silva, Rita de Cássia Silva de Oliveira, Ana Paula Araújo Guimarães, Aylla Núbia Lima Martins da Silva, Isabela Guerreiro Diniz, Haiala Soter Silva de Oliveira, Diego Sarmento de Sousa, Fernanda Andreza de Pinho Lott Figueiredo, Greice de Lemos Cardoso Costa, João Farias Guerreiro","doi":"10.1590/1678-4685-GMB-2023-0107","DOIUrl":"10.1590/1678-4685-GMB-2023-0107","url":null,"abstract":"<p><p>Genetic, epigenetic and environmental factors play an important role in the genesis of Type 2 Diabetes Mellitus (T2D). In the genetic context, one of the strategies used to investigate possible associations with diabetes is the search for Single Nucleotide Polymorphisms (SNPs), involving the comparison of alelle frequencies, the phenotypic variations and other relevant factors, such as environmental influences and lifestyle choices, Thus, the aim of this study was to find the relationship of risk variants for T2D in SNPs (rs4994) in the ADRB3 gene; (rs1799854) in the ABCC8 gene; (rs7901695 and rs12255372) in the TCF7L2 gene; and (rs8050136) in the FTO gene in a sample of the population of the municipality of Santarém (PA), Brazilian Amazon, in the northern region of Brazil. ABCC8 (rs1799854 C>T) showed a statistically significant association with T2D. Each chosen gene and SNP has been previously implicated in T2D risk according to existing scientific literature, owing to their roles in glucose regulation and body fat.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 3","pages":"e20230107"},"PeriodicalIF":1.7,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11308377/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141970950","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}
{"title":"Genomic characterization of SNW-1, a novel prophage of the deep-sea vent chemolithoautotroph Sulfurimonas indica NW79.","authors":"Xiaofeng Li, Ruolin Cheng, Chuanxi Zhang, Zongze Shao","doi":"10.1590/1678-4685-GMB-2023-0355","DOIUrl":"10.1590/1678-4685-GMB-2023-0355","url":null,"abstract":"<p><p>The globally widespread genus Sulfurimonas are playing important roles in different habitats, including the deep-sea hydrothermal vents. However, phages infecting Sulfurimonas have never been isolated and characterized to date. In the present study, a novel prophage SNW-1 was identified from Sulfurimonas indica NW79. Whole genome sequencing resulted in a circular, double-stranded DNA molecule of 37,096 bp with a mol% G+C content of 37. The genome includes 64 putative open reading frames, 33 of which code for proteins with predicted functions. Presence of hallmark genes associated with Caudoviricetes and genes involved in lysis and lysogeny indicated that SNW-1 should be a temperate, tailed phage. Phylogenetic and comparative proteomic analyses suggested that Sulfurimonas phage SNW-1 was distinct from other double stranded DNA phages and might represent a new viral genus.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 2","pages":"e20230355"},"PeriodicalIF":1.7,"publicationDate":"2024-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11290706/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141878632","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}
Bruna Kulmann-Leal, Joel Henrique Ellwanger, Ana Cristina Arend, Luiz Fernando Job Jobim, Mariana Jobim, Rafael Tomoya Michita, Sidia Maria Callegari-Jacques, Luís Cristóvão de Moraes Sobrino Pôrto, José Artur Bogo Chies
{"title":"CCR5Δ32 and HLA allele diversity in bone marrow donors from southern Brazil.","authors":"Bruna Kulmann-Leal, Joel Henrique Ellwanger, Ana Cristina Arend, Luiz Fernando Job Jobim, Mariana Jobim, Rafael Tomoya Michita, Sidia Maria Callegari-Jacques, Luís Cristóvão de Moraes Sobrino Pôrto, José Artur Bogo Chies","doi":"10.1590/1678-4685-GMB-2023-0198","DOIUrl":"10.1590/1678-4685-GMB-2023-0198","url":null,"abstract":"<p><p>Transplantation of stem cells derived from donors with CCR5Δ32 homozygous genotype is a potential strategy to achieve both the control of malignant hematological disease as well as sustained remission of the HIV infection, and researchers in different countries are looking for CCR5Δ32 homozygous donors to replicate such a 'double-target' strategy. We determined the frequency of the CCR5Δ32 variant in a sample of 1,398 bone marrow donors from Rio Grande do Sul State, Brazil. This study also evaluated whether HLA-A, HLA-B and HLA-DRB1 genotypes are homogeneously distributed between CCR5Δ32 carriers and non-carriers in a population characterized by a significant genetic admixture. The CCR5Δ32 allele frequency was 7.4% (CI0.95 6.4-8.4%), and the frequency of the Δ32/Δ32 homozygous genotype was 0.72% (CI0.95 0.34-1.31%). In general, HLA genotypes are homogeneously distributed between CCR5Δ32 carriers and non-carriers. Considering the large number of bone marrow donors in Brazil and the high CCR5Δ32 allele frequency observed in our study, our results clearly indicate the existence of a considerable amount of potential CCR5Δ32 homozygous bone marrow donors in southern Brazil, suggesting that an active search for these donors is not only feasible but an attractive and promising strategy towards effective HIV infection control and treatment.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 3","pages":"e20230198"},"PeriodicalIF":1.7,"publicationDate":"2024-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11285832/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141792371","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}
Maria Eduarda Deluca João, Andrea Gomes Tavanti, Alexandre Nascimento de Vargas, Livia Kmetzsch, Charley Christian Staats
{"title":"The influence of amoeba metal homeostasis on antifungal activity against Cryptococcus gattii.","authors":"Maria Eduarda Deluca João, Andrea Gomes Tavanti, Alexandre Nascimento de Vargas, Livia Kmetzsch, Charley Christian Staats","doi":"10.1590/1678-4685-GMB-2023-0320","DOIUrl":"10.1590/1678-4685-GMB-2023-0320","url":null,"abstract":"<p><p>Free-living amoebas are natural predators of fungi, including human pathogens of the Cryptococcus genus. To survive and proliferate inside phagocytes, cryptococcal cells must acquire several nutrients. Zinc is fundamental for all life forms and develops a crucial role in the virulence of fungal pathogens, phagocytes reduce the availability of this metal to reduce the development of infection. The Acanthamoeba castellanii ACA1_271600 gene codes a metal transporter that is possibly associated with such antifungal strategy. Here, we evaluated the impact of A. castellanii metal homeostasis on C. gattii survival. Gene silencing of ACA1_271600 was performed and the interaction outcome of amoeba cells with both WT and zinc homeostasis-impaired mutant cryptococcal cells was evaluated. Decreased levels of ACA1_271600 in silenced amoeba cells led to higher proliferation of such cryptococcal strains. This effect was more pronounced in the zip1 mutant of C. gattii, suggesting that ACA1_271600 gene product modulates metal availability in Cryptococcus-infected amoebae. In addition, a systems biology analysis allowed us to infer that ACA1_271600 may also be involved in other biological processes that could compromise amoebae activity over cryptococcal cells. These results support the hypothesis that A. castellanii can apply nutritional immunity to hamper cryptococcal survival.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 2","pages":"e20230320"},"PeriodicalIF":1.7,"publicationDate":"2024-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11290705/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141878633","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}