Genetics and Molecular Biology最新文献

Multi-omics analyses revealed three Golgi apparatus genes potentially associated with poor prognosis in colorectal cancer patients. 多组学分析揭示了三个高尔基体基因可能与结直肠癌患者预后不良有关。

IF 1.3 4区生物学

Genetics and Molecular Biology Pub Date : 2025-09-26 eCollection Date: 2025-01-01 DOI: 10.1590/1678-4685-GMB-2024-0126

Peng Zhu, Shisi Shen, Xi Wang, Jie Li, Donge Tang, Yong Dai, Min Tang, Wei Zhang, Guoping Sun

{"title":"Multi-omics analyses revealed three Golgi apparatus genes potentially associated with poor prognosis in colorectal cancer patients.","authors":"Peng Zhu, Shisi Shen, Xi Wang, Jie Li, Donge Tang, Yong Dai, Min Tang, Wei Zhang, Guoping Sun","doi":"10.1590/1678-4685-GMB-2024-0126","DOIUrl":"10.1590/1678-4685-GMB-2024-0126","url":null,"abstract":"The identification of novel functional biomarkers is crucial in recognizing high-risk colorectal cancer (CRC) patients. Despite this need, no prognostic biomarker has been implemented in clinical practice for CRC. To address this gap, we utilized integrated transcriptomic data from public databases alongside our original multi-omics data, including proteome and chromatin accessibility datasets. Bioinformatics studies on transcriptomic datasets from 487 CRC patients led us to identify three Golgi apparatus prognostic genes: NIPAL1, ZYG11B, and PARP10. We found that decreased expression of NIPAL1 and ZYG11B, as well as increased expression of PARP10, elevated the risk of CRC. These genes are potentially involved in cellular processes such as nucleotide excision repair and DNA replication. Additionally, our original multi-omics datasets, encompassing proteomic data and chromatin accessibility profiling from assay for transposase-accessible chromatin with sequencing (ATAC-Seq), identified alterations in protein levels of potential upstream transcription factors CDX2 and YY1 for three genes. Furthermore, chromatin accessibility at DNA binding regions corresponding to transcription factors such as SPI1 and JUND changed, potentially explaining the observed variations in mRNA levels for these genes. Our findings highlight the biological activities of these genes, including NIPAL1, PARP10, and ZYG11B, and their upstream regulators, offering a functional context for future in-depth mechanistic studies.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"48 3","pages":"e20240126"},"PeriodicalIF":1.3,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12477754/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145185427","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}

引用次数: 0

The complete mitochondrion genome of the Hoge's Side-necked turtle Ranacephala hogei (Chelidae), a critically endangered species from South America. Hoge's侧颈龟Ranacephala hogei (Chelidae)，一种来自南美洲的极度濒危物种的完整线粒体基因组。

IF 1.3 4区生物学

Genetics and Molecular Biology Pub Date : 2025-08-15 eCollection Date: 2025-01-01 DOI: 10.1590/1678-4685-GMB-2024-0203

Ana Teresa Dumans, Alexandre Pedro Selvatti, Deise Schroder Sarzi, Carolina Furtado, Gláucia Drummond, Marcos Coutinho, Daniel Cardoso Carvalho, Francisco Prosdocimi

{"title":"The complete mitochondrion genome of the Hoge's Side-necked turtle Ranacephala hogei (Chelidae), a critically endangered species from South America.","authors":"Ana Teresa Dumans, Alexandre Pedro Selvatti, Deise Schroder Sarzi, Carolina Furtado, Gláucia Drummond, Marcos Coutinho, Daniel Cardoso Carvalho, Francisco Prosdocimi","doi":"10.1590/1678-4685-GMB-2024-0203","DOIUrl":"10.1590/1678-4685-GMB-2024-0203","url":null,"abstract":"The Hogei's side-necked turtle, Ranacephala hogei, an endemic species of the Southern Paraíba basin, is the most endangered species of chelonians in Brazil. Here, we sequenced, assembled and described the complete mitogenome for R. hogei. The circularized mitogenome of R. hogei was 16,513 bp in length, containing all the typical 13 protein-coding genes, 2 rRNAs, 22 tRNAs and the D-loop region, as expected for animal mitogenomes. The gene arrangement also met the expectation for vertebrates, though R. hogei NAD6 gene was shorter than observed in other closely related species. Additionally, we provided an assembly of the Podocnemis expansa mitochondrial genome based on public data in SRA database. Maximum likelihood and Bayesian phylogenomic trees were constructed using the concatenation of the alignments of all protein coding and ribosomal genes and compared to the data obtained from other 15 complete mitochondrial genomes available for the suborder Pleurodira plus five Cryptodira taxa as outgroups in the GenBank database. Our phylogenomic results placed the mitogenome of R. hogei in a monophyletic South American clade which is deeply within the family Chelidae, corroborating the evolutionary affinities of the sequence. The remaining phylogenomic results also agrees with previous phylogenetic studies in Pleurodira, namely the reciprocal monophyly of the Australasian and South American Chelidae clades, and the monophyly of all higher clades such as families and suborder.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"48 3","pages":"e20240203"},"PeriodicalIF":1.3,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12359128/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144872636","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}

引用次数: 0

Crossover frequencies in spermatocytes of Robertsonian homozygotes and heterozygotes of Mus musculus domesticus. 家鼠罗伯逊纯合子和杂合子精母细胞的交叉频率。

IF 1.3 4区生物学

Genetics and Molecular Biology Pub Date : 2025-08-01 eCollection Date: 2025-01-01 DOI: 10.1590/1678-4685-GMB-2024-0219

Eliana Ayarza, Marisel González, Jesús Page, Soledad Berríos

{"title":"Crossover frequencies in spermatocytes of Robertsonian homozygotes and heterozygotes of Mus musculus domesticus.","authors":"Eliana Ayarza, Marisel González, Jesús Page, Soledad Berríos","doi":"10.1590/1678-4685-GMB-2024-0219","DOIUrl":"10.1590/1678-4685-GMB-2024-0219","url":null,"abstract":"Crossovers (COs) generate genetic diversity and proper homologous chromosome segregation during meiosis. Mus musculus domesticus, with a diploid number of 2n=40, has 19 autosomal pairs plus one sex chromosome pair all of which are telocentric chromosomes. Frequently exhibits Robertsonian fusions (Rb), which create natural populations with reduced chromosome numbers according to the Rb chromosomes. We examined the number and distribution of COs in spermatocytes from standard homozygous 2n=40 individuals, compared to homozygous Rb 2n=24 and heterozygous Rb 2n=32 individuals carrying 8 trivalents. Spermatocyte nuclear spreads from homozygous and heterozygous were prepared, and immunocytochemistry was used to detect the MLH1 protein for crossover (CO) and the SYCP3 protein for synaptonemal complexes in bivalents or trivalents. We observed an average of 26 ± 2.1 COs in 2n=40, 20.1 ± 1.6 COs in 2n=24, and an intermediate value of 22.4 ± 2.0 COs in 2n=32 spermatocytes. The lower frequency of COs in 2n=24 and 2n=32 spermatocytes compared to 2n=40 may be due to interference from the pericentromeric heterochromatin present in the Rb bivalent or trivalent chromosomes. Additionally, we suggest that the spatial positioning and interactions of these derivative chromosomes in the nucleus could help explain the differences in COs between 2n=24, 2n=32, and 2n=40 spermatocytes.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"48 3","pages":"e20240219"},"PeriodicalIF":1.3,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12319948/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144775165","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}

引用次数: 0

Complete chloroplast genome sequence and phylogenetic analysis of Symphytum officinale. 合欢植物叶绿体全基因组序列及系统发育分析。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2025-06-30 eCollection Date: 2025-01-01 DOI: 10.1590/1678-4685-GMB-2024-0258

Yuemei Zhao, Xiaodan Chen, Tao Zhou, Rongxiang Zhang, Fang Zhao, Xiao Zhang

{"title":"Complete chloroplast genome sequence and phylogenetic analysis of Symphytum officinale.","authors":"Yuemei Zhao, Xiaodan Chen, Tao Zhou, Rongxiang Zhang, Fang Zhao, Xiao Zhang","doi":"10.1590/1678-4685-GMB-2024-0258","DOIUrl":"10.1590/1678-4685-GMB-2024-0258","url":null,"abstract":"Symphytum officinale is a perennial herb belonging to the Boraginaceae. Here, we sequenced the complete chloroplast (cp) genomes of S. officinale using Illumina sequencing technology. The results revealed that the cp genome is 148,149 bp in length and exhibits a typical quadripartite structure, with a pair of inverted repeat regions (IR) comprising 27,001 bp, a large single-copy (LSC) region comprising 77,366 bp, and a small single-copy (SSC) region comprising 16,781 bp. The sequence contained 133 unique genes, including 86 protein-coding genes, 37 transfer RNAs, eight ribosomal RNAs, and two pseudogenes. Six tandem, 42 dispersed, and 38 simple sequence repeats were identified. Sequence divergence analysis across 21 Boraginaceae species revealed that the most divergent regions, potentially serving as specific DNA barcodes, were found in non-coding spacers. A comparative analysis of the IR/SC boundary regions of the 21 Boraginaceae species revealed IR expansion events in S. officinale. Phylogenetic analysis based on 63 protein-coding genes demonstrated that S. officinale was closely related to Nonea vesicaria. This represents the first cp genome sequenced in Symphytum, and our results provide valuable genetic information for future population and phylogenetic studies of Boraginaceae.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"48 2","pages":"e20240258"},"PeriodicalIF":1.7,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12210358/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144564652","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}

引用次数: 0

Di-n-butyl and di-iso-pentyl phthalates and their mixture increase oxidative stress and embryo-larval malformations in zebrafish (Danio rerio). 邻苯二甲酸二丁酯和邻苯二甲酸二异戊酯及其混合物增加斑马鱼的氧化应激和胚胎-幼虫畸形（Danio rerio）。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2025-06-02 eCollection Date: 2025-01-01 DOI: 10.1590/1678-4685-GMB-2024-0082

Juliana Roratto Lirola, Tathyana Benetis Piau, Daniela Moraes Leme, Anderson Joel Martino Andrade, Izonete Cristina Guiloski, Helena Cristina Silva de Assis, Cesar Koppe Grisolia, Marta Margarete Cestari

{"title":"Di-n-butyl and di-iso-pentyl phthalates and their mixture increase oxidative stress and embryo-larval malformations in zebrafish (Danio rerio).","authors":"Juliana Roratto Lirola, Tathyana Benetis Piau, Daniela Moraes Leme, Anderson Joel Martino Andrade, Izonete Cristina Guiloski, Helena Cristina Silva de Assis, Cesar Koppe Grisolia, Marta Margarete Cestari","doi":"10.1590/1678-4685-GMB-2024-0082","DOIUrl":"10.1590/1678-4685-GMB-2024-0082","url":null,"abstract":"Different phthalate compounds, known as emerging contaminants, such as Di-n-butyl (DBP) and di-iso-pentyl (DiPeP) phthalates, have been found in aquatic environments and are widely used as additives to increase the flexibility of plastics. This study intended to evaluate the toxicity in zebrafish embryos and larvae of DBP and DiPeP, as well as the mixture of the two compounds. Fish embryo toxicity, neurotoxicity, oxidative stress, and genotoxicity studies were carried out in Danio rerio (zebrafish) embryos and larvae. Fish were exposed to DBP and DiPeP in concentrations ranging from 0.001 to 0.125 mg/L and also a combination of compounds DBP + DiPeP (1:1 MIX). DBP caused mortality and embryo malformations from 0.062 mg/L, DiPeP at 0.125 mg/L and the mixture at 0.031 mg/L, indicating the potential toxicity of these phthalates. Isolated phthalates and in mixture induced neurotoxicity and oxidative stress, at low concentrations in zebrafish larvae. No genotoxicity was found through comet assay in larvae. DBP was more toxic than DiPeP, and the mixture was more toxic than both phthalates when tested in isolation, showing some kind of interaction.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"48 2","pages":"e20240082"},"PeriodicalIF":1.7,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12143589/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198836","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}

引用次数: 0

Inferring the historical demography of southern African cheetahs (Acinonyx jubatus) using Bayesian analyses of molecular genetic data. 利用分子遗传数据的贝叶斯分析推断南部非洲猎豹（Acinonyx jubatus）的历史人口统计。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2025-05-19 eCollection Date: 2025-01-01 DOI: 10.1590/1678-4685-GMB-2024-0253

Ezequiel Chimbioputo Fabiano, Sandro Luis Bonatto, Anne Schmidt-Küntzel, Stephen J O'Brien, Laurie Marker, Eduardo Eizirik

{"title":"Inferring the historical demography of southern African cheetahs (Acinonyx jubatus) using Bayesian analyses of molecular genetic data.","authors":"Ezequiel Chimbioputo Fabiano, Sandro Luis Bonatto, Anne Schmidt-Küntzel, Stephen J O'Brien, Laurie Marker, Eduardo Eizirik","doi":"10.1590/1678-4685-GMB-2024-0253","DOIUrl":"10.1590/1678-4685-GMB-2024-0253","url":null,"abstract":"The contemporary genetic diversity of the cheetah (Acinonyx jubatus) has been the focus of several studies, which have revealed very low levels of variation. Different hypotheses have been proposed to explain this pattern of low diversity, and require additional scrutiny. Here, we used published microsatellite data and coalescence-based analytical methods to explore the historical demography of the largest free-ranging cheetah population, aiming to assess whether present-day diversity may have been impacted by a historical demographic decline. Our results support the hypothesis of a historical (and most likely gradual) demographic decline over the past ~10,000 years, leading to a present-day N e ranging from 700 to 1,600 individuals. This decline was likely induced by climate-driven vegetational shifts affecting habitat suitability and possibly also interspecies interactions with prey and competitors. These results help clarify the demographic history of cheetahs in southern Africa and its impact on the current genetic diversity of this population.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"48 2","pages":"e20240253"},"PeriodicalIF":1.7,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12091599/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144131890","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}

引用次数: 0

Oral microbiota dysbiosis in pediatric patients undergoing treatment for acute lymphoid leukemia a preliminary study. 儿科急性淋巴细胞白血病患者口腔微生物群失调的初步研究。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2025-05-16 eCollection Date: 2025-01-01 DOI: 10.1590/1678-4685-GMB-2023-0359

André Vieira Souza, Leonardo Vinícius Barbosa, Alejandra Adriana Cardoso de Castro, Edna Kakitani Carboni, Flora Mitie Watanabe, Roberto Rossati, Libera Maria Dalla Costa, Dany Mesa, Cleber Machado-Souza

{"title":"Oral microbiota dysbiosis in pediatric patients undergoing treatment for acute lymphoid leukemia a preliminary study.","authors":"André Vieira Souza, Leonardo Vinícius Barbosa, Alejandra Adriana Cardoso de Castro, Edna Kakitani Carboni, Flora Mitie Watanabe, Roberto Rossati, Libera Maria Dalla Costa, Dany Mesa, Cleber Machado-Souza","doi":"10.1590/1678-4685-GMB-2023-0359","DOIUrl":"10.1590/1678-4685-GMB-2023-0359","url":null,"abstract":"Acute lymphoblastic leukemia (ALL) stands out as the most prevalent neoplasm during childhood, characterized by the rapid production of abnormal lymphoid cells. Chemotherapy administered to these patients may induce a substantial imbalance in the oral microbiota. A prospective pediatric study encompassing a control group (without ALL) and ALL patients at two treatment stages (pre-induction and consolidation) was conducted. Clinical and laboratory data were meticulously collected. Moreover, DNA from saliva samples was extracted for 16S rRNA sequencing. Clinical data revealed a heightened incidence of oral mucositis during the consolidation phase. Analysis of alpha biodiversity (observed taxa) exhibited a significant reduction in bacterial richness among patients in the consolidation phase. Network analysis identified key taxa during this phase, namely Neisseria flavescens, Prevotella melaninogenica and Porphyromonas. The findings underscore the substantial impact of ALL treatment on the oral microbiota composition, indicating diminished bacterial diversity and an elevated prevalence of oral mucositis.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"48 2","pages":"e20230359"},"PeriodicalIF":1.7,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12083558/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144077349","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}

引用次数: 0

DNA damage repair-related methylated genes RRM2 and GAPDH are prognostic biomarkers associated with immunotherapy for lung adenocarcinoma. DNA损伤修复相关甲基化基因RRM2和GAPDH是与肺腺癌免疫治疗相关的预后生物标志物。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2025-05-09 eCollection Date: 2025-01-01 DOI: 10.1590/1678-4685-GMB-2024-0138

Xinru Mao, Shaban Eljali Saad, Nung Kion Lee, Isabel Lim Fong

{"title":"DNA damage repair-related methylated genes RRM2 and GAPDH are prognostic biomarkers associated with immunotherapy for lung adenocarcinoma.","authors":"Xinru Mao, Shaban Eljali Saad, Nung Kion Lee, Isabel Lim Fong","doi":"10.1590/1678-4685-GMB-2024-0138","DOIUrl":"https://doi.org/10.1590/1678-4685-GMB-2024-0138","url":null,"abstract":"Research has highlighted the significant role of methylated genes associated with DNA damage repair in pathogenesis of Lung adenocarcinoma (LUAD). However, the potential of DNA damage repair-related gene (DDRG) methylation as a prognostic biomarker remains underexplored. This study aimed to assess the prognostic value of methylated DDRGs in LUAD. Analysis of the TCGA-LUAD dataset revealed differentially expressed genes (DEGs) and differentially methylated genes (DE-MGs), from which methylated DE-DDRGs were identified. An independent prognostic risk model was constructed based on these methylated DE-DDRGs by integrating risk scores with clinical features. Additionally, the study examined responses to immunotherapy. Results indicated that CLU exhibited hypermethylation and elevated expression in LUAD tissues, while eight other genes (BUB1B, SHCBP1, RRM2, RPL39L, TRIP13, GAPDH, ENO1, and CENPM) showed high expression and hypomethylation. Among these, RRM2 and GAPDH were significantly linked to poorer overall survival. Furthermore, single-sample gene set enrichment analysis (ssGSEA) revealed that patients with LUAD in the high-risk group had lower immune scores and less immune cell infiltration. TIDE analysis suggested that patients in the low-risk group may exhibit greater sensitivity to immune checkpoint inhibitor therapy. In conclusion, RRM2 and GAPDH represent promising prognostic and immunotherapeutic biomarkers, offering new avenues for LUAD treatment strategies.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"48 2","pages":"e20240138"},"PeriodicalIF":1.7,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12063672/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143983175","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}

引用次数: 0

Fecal Virome of Southeastern Maned Sloth (Bradypus crinitus) (Pilosa: Bradypodidae). 东南鬃懒粪便病毒（毛懒科）。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2025-05-09 eCollection Date: 2025-01-01 DOI: 10.1590/1678-4685-GMB-2024-0183

Amanda Coimbra, Mirela D'arc, Filipe Romero Rebello Moreira, Matheus Augusto Calvano Cosentino, Francine Bittencourt Schiffler, Thamiris Dos Santos Miranda, Ricardo Mouta, Déa Luiza Girardi, Victor Wanderkoke, Gabriel Medeiros, Talitha Mayumi Francisco, Flávio Landim Soffiati, Suelen Sanches Ferreira, Carlos Ramon Ruiz-Miranda, Marcelo Alves Soares, André Felipe Dos Santos

{"title":"Fecal Virome of Southeastern Maned Sloth (Bradypus crinitus) (Pilosa: Bradypodidae).","authors":"Amanda Coimbra, Mirela D'arc, Filipe Romero Rebello Moreira, Matheus Augusto Calvano Cosentino, Francine Bittencourt Schiffler, Thamiris Dos Santos Miranda, Ricardo Mouta, Déa Luiza Girardi, Victor Wanderkoke, Gabriel Medeiros, Talitha Mayumi Francisco, Flávio Landim Soffiati, Suelen Sanches Ferreira, Carlos Ramon Ruiz-Miranda, Marcelo Alves Soares, André Felipe Dos Santos","doi":"10.1590/1678-4685-GMB-2024-0183","DOIUrl":"10.1590/1678-4685-GMB-2024-0183","url":null,"abstract":"We report a viral metagenomic analysis of fecal samples from Bradypus crinitus (Pilosa: Bradypodidae), a recently described sloth species that occurs in the Atlantic Forest of Espírito Santo and Rio de Janeiro states, Southeast Brazil. Through Illumina sequencing, we generated a total of 2,065,344 raw reads, of which 945,386 reads (45.77%) passed the quality and size filter. The highest proportion of them was assigned to Eukarya, followed by Bacteria and only a small proportion to Virus. However, we identified 24 viral families using distinct taxonomic assignment tools, including phages and vertebrate viruses, such as retroviruses and papillomaviruses. Also, we identified four bacterial genus already associated with disease in sloths. Our study sheds light on the microbiome of a previously unexplored species, further contributing to the comprehension of metagenomic global diversity.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"48 2","pages":"e20240183"},"PeriodicalIF":1.7,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12063671/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143988641","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}

引用次数: 0

Clinical and epidemiological characterisation of neurofibromatosis type 1: Combined analysis of a reference hospital in Brazil and DataSUS. 1型神经纤维瘤病的临床和流行病学特征：巴西一家参考医院和DataSUS的联合分析

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2025-04-25 eCollection Date: 2025-01-01 DOI: 10.1590/1678-4685-GMB-2024-0144

Marina Gabriela da Silva Lins, Peterson de Jesus Morais, Júlia de Oliveira Martinho, Mariah Cristina Antunes do Nascimento, Ana Paula Simedan Vila, Márcia Maria Urbanin Castanhole-Nunes, Érika Cristina Pavarino, Eny Maria Goloni-Bertollo

{"title":"Clinical and epidemiological characterisation of neurofibromatosis type 1: Combined analysis of a reference hospital in Brazil and DataSUS.","authors":"Marina Gabriela da Silva Lins, Peterson de Jesus Morais, Júlia de Oliveira Martinho, Mariah Cristina Antunes do Nascimento, Ana Paula Simedan Vila, Márcia Maria Urbanin Castanhole-Nunes, Érika Cristina Pavarino, Eny Maria Goloni-Bertollo","doi":"10.1590/1678-4685-GMB-2024-0144","DOIUrl":"10.1590/1678-4685-GMB-2024-0144","url":null,"abstract":"Neurofibromatosis type 1 (NF1) is a syndrome triggered by mutations in the NF1 gene, which alter the neurofibromin protein, a negative regulator of the RAS oncogenic pathway. Due to underreporting, the scarcity of studies on NF1 in Brazil and its importance in public health. This study aimed to assess the clinical and epidemiological characterisation of NF1 in a Reference Hospital in the country and DataSUS. The study analysed the electronic medical records of patients with NF1 and the DataSUS databases. The medical records showed a greater number of female, white and adult patients. There was a high frequency of clinical features adopted by the NIH consensus for the clinical diagnosis of the disease, such as CALMs, dermal neurofibromas and axillary/inguinal ephelides, bone and ophthalmological changes, in addition malignant and benign neoplasms and neurodevelopmental disorders. On the other hand, the data provided by DataSUS shows a disproportionate concentration of NF1 consultations between the country's regions, with a low level of diagnoses of newborn with NF1 and a NF1 mortality rate of 3.06% in the population. There is therefore a need for new public policies on access to diagnosis, treatment and information about the disease for the Brazilian population.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"48 1","pages":"e20240144"},"PeriodicalIF":1.7,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12100465/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144119349","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}

引用次数: 0