Genetics and Molecular Biology最新文献

HVSnp: A manually curated database of human SNPS associated with viral infections. HVSnp：与病毒感染相关的人类snp的人工管理数据库。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2026-10-19 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0075

Ana Carolina Laureano Paganin, Caio César de Melo Freire

{"title":"HVSnp: A manually curated database of human SNPS associated with viral infections.","authors":"Ana Carolina Laureano Paganin, Caio César de Melo Freire","doi":"10.1590/1678-4685-GMB-2025-0075","DOIUrl":"https://doi.org/10.1590/1678-4685-GMB-2025-0075","url":null,"abstract":"We developed the \"HVSnp: Human Viruses SNP-related database, a curated database\". HVSnp is exclusive to the human SNPs studied and related to viral diseases, with manually mined and curated information from public SNP databases and scientific articles. We used MySQL (version 8.0) due to the easy management and the Looker Studio online availability. Among the output information, we have SNP identification, reference, alternative, and risk alleles, chromosome, gene, and gene function, summary, among others. In total, HVSnp contains eighteen viral diseases and 2020 records: Adenovirus (17 SNPs), Chikungunya (7), COVID-19 (314), Cytomegalovirus (54), Dengue (62), Epstein-Barr (54), Hepatitis A (3), Hepatitis B (380), Hepatitis C (166), Herpes (8), Human immunodeficiency virus (479), Papillomavirus (87), Influenza (74), Measles (68), Respiratory syncytial virus (50), Sars-CoV (80), West Nile (68), and Zika (49). As one SNP can be associated with more than one virus, the number of unique SNPs is 1691 and 651 genes. HVSnp has supplementary information obtained in articles for the summary elaboration, which contains the most significant results described in the literature about a possible relationship between SNPs and viruses. The database is available at URL: https://lookerstudio.google.com/s/pGUC7m538gQ.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49 3","pages":"e20250075"},"PeriodicalIF":1.7,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149223796","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}

引用次数: 0

Distinct colony niches shape associated microbiotas in Neotropical stingless bees. 在新热带无刺蜜蜂中，不同的群落生态位形成了相关的微生物群。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2026-10-09 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2026-0023

Karen Luisa Haag

{"title":"Distinct colony niches shape associated microbiotas in Neotropical stingless bees.","authors":"Karen Luisa Haag","doi":"10.1590/1678-4685-GMB-2026-0023","DOIUrl":"10.1590/1678-4685-GMB-2026-0023","url":null,"abstract":"Stingless bees (Meliponini) are an ancient lineage of eusocial insects whose associated microbiomes have been increasingly studied in comparison with those of honey bees. In this review, I synthesize current evidence on microbial communities associated with stingless bees across life stages and colony compartments, emphasizing how patterns of host association differ among distinct biological contexts. I propose that stingless bee microbiomes are not uniformly more environmentally driven than those of honey bees. Instead, strong and evolutionarily conserved filters structure microbial communities associated with larvae and adult guts, whereas greater environmental input is more evident in some colony resources, such as stored food and nest materials. Comparative analyses further indicate that differences between honey bees and stingless bees arise primarily from lineage-specific elaborations in colony biology that created new ecological opportunities for microbial diversification, rather than from fundamental divergence in gut-associated microbiota. Framing stingless bee colonies within a modular framework-where larvae, adult guts, and colony resources represent distinct microbial arenas-provides a coherent way to integrate these contrasting dynamics and to understand how host-microbe associations are maintained, reorganized, and evolve in eusocial systems viewed as modular holobionts.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49Suppl 1 Suppl 1","pages":"e20260023"},"PeriodicalIF":1.7,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13651872/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149148005","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

mRNA-based therapies: From molecular discovery to clinical revolution. 基于mrna的治疗：从分子发现到临床革命。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2026-10-09 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2026-0026

Andressa Peres de Oliveira, Fernanda Marques Câmara Sodré, Orlando Louzada-Neto, Mariana Centrone Zylberman, Jamile Ramos da Silva, Luís Carlos de Souza Ferreira, Carlos Frederico Martins Menck

{"title":"mRNA-based therapies: From molecular discovery to clinical revolution.","authors":"Andressa Peres de Oliveira, Fernanda Marques Câmara Sodré, Orlando Louzada-Neto, Mariana Centrone Zylberman, Jamile Ramos da Silva, Luís Carlos de Souza Ferreira, Carlos Frederico Martins Menck","doi":"10.1590/1678-4685-GMB-2026-0026","DOIUrl":"10.1590/1678-4685-GMB-2026-0026","url":null,"abstract":"For nearly 50 years, scientists have sought to exploit messenger RNA (mRNA) as a therapeutic tool, overcoming major challenges related to instability, delivery, and inflammatory reactions. A major breakthrough came with the incorporation of modified nucleosides, particularly pseudouridine, during in vitro mRNA synthesis, which markedly improved stability, translation efficiency, and tolerability. The clinical success of mRNA technology was demonstrated in 2020 with the development of highly effective and safe COVID-19 vaccines, administered to over a billion individuals worldwide. These achievements inaugurated a new era in molecular medicine. In this review, we revisit the historical development of mRNA delivery into human cells and discuss the emergence of mRNA as a gene-therapy approach. In fact, beyond vaccination, mRNA platforms are rapidly expanding toward protein replacement therapies for genetic disorders and innovative strategies for cancer treatment. We summarize advances in synthetic mRNA design and optimization, delivery vehicles, and administration strategies that enable therapeutic applications. Finally, we highlight current limitations, technological challenges, and future opportunities, emphasizing how mRNA-based technologies have become powerful tools for studying gene function and developing next-generation precision therapies.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49Suppl 1 Suppl 1","pages":"e20260026"},"PeriodicalIF":1.7,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13651765/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149149188","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

Type VI secretion systems at the interface between bacteria and eukaryotic cells. 细菌和真核细胞交界面的VI型分泌系统。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2026-09-14 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2026-0024

Izabella Santos Mori Bragil, Bianca Bontempi Batista, José Felipe Teixeira da Silva Santos, Natália Carolina Drebes Dörr, Cristina Elisa Alvarez-Martinez

{"title":"Type VI secretion systems at the interface between bacteria and eukaryotic cells.","authors":"Izabella Santos Mori Bragil, Bianca Bontempi Batista, José Felipe Teixeira da Silva Santos, Natália Carolina Drebes Dörr, Cristina Elisa Alvarez-Martinez","doi":"10.1590/1678-4685-GMB-2026-0024","DOIUrl":"10.1590/1678-4685-GMB-2026-0024","url":null,"abstract":"Bacterial type VI secretion systems (T6SSs) are molecular devices that traverse the bacterial envelope and mediate the translocation of protein effectors directly into prokaryotic or eukaryotic cells, thereby interfering with diverse cellular processes in target organisms. T6SSs involved in interbacterial competition have been widely described and functionally characterized, together with a remarkable arsenal of cognate toxins. In contrast, comparatively less is known about anti-eukaryotic T6SSs. This review summarizes recent advances in the study of T6SSs that target eukaryotic cells, highlighting their roles in virulence, resistance to environmental predators, and microbial competition. We discuss T6SS-mediated interactions with protozoan predators, fungi, animal hosts and plants, emphasizing the expanding repertoire of T6SS effectors that modulate conserved eukaryotic pathways. Together, these findings reveal the ecological and pathogenic relevance of T6SS-driven trans-kingdom interactions.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49Suppl 1 Suppl 1","pages":"e20260024"},"PeriodicalIF":1.7,"publicationDate":"2026-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13577199/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148976596","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

Chloroplast genome comparative analysis and phylogenetic relationships of 15 Syringa species (Oleaceae). 15种丁香属植物叶绿体基因组比较分析及系统发育关系。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2026-09-07 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2026-0016

Yuting Duan, Yan Wang, Yiluo Wang, Kaige Xu, Erdong Zhang, Xiaodong Ding, Lei Zhang

{"title":"Chloroplast genome comparative analysis and phylogenetic relationships of 15 Syringa species (Oleaceae).","authors":"Yuting Duan, Yan Wang, Yiluo Wang, Kaige Xu, Erdong Zhang, Xiaodong Ding, Lei Zhang","doi":"10.1590/1678-4685-GMB-2026-0016","DOIUrl":"10.1590/1678-4685-GMB-2026-0016","url":null,"abstract":"Syringa is a crucial shrub genus in the family Oleaceae, which has significant ornamental, economic, and medicinal value. However, research on the chloroplast genome (CPG) phylogeny and lineage diversification of this genus remains limited. In this study, all 15 Syringa CPGs exhibited a characteristic quadripartite structure, with genome lengths ranging from 154,019-158,020 bp. These CPGs were highly conserved and moderately differentiated, each containing 130-132 genes. Analysis of inverted repeat (IR) boundaries indicated structural conservation, with six genes: rps19, rpl2, ycf1, trnN, ndhF, and trnH present at the IR/single-copy (SC) junctions. The small single copy (SSC) region displayed greater sequence variability than the IR regions. ycf1, ndhH, trnL-rpl32, ndhF-ycf1, and rbcL-accD were identified as potential molecular markers and rps11, ycf2, and ycf4 may have contributed to the adaptive evolution of Syringa. Phylogenetic reconstruction based on whole CPG data supported the monophyly of the 15 species, which were divided into three distinct subclades. Molecular dating estimated that Syringa diverged from its sister genus approximately 58 million years ago, with most Syringa species diversifying further approximately 47.49 million years ago during the Eocene. Our findings will hopefully stimulate further studies on this genus that may enhance biodiversity knowledge.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49 3","pages":"e20260016"},"PeriodicalIF":1.7,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13555786/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148911554","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

Preimplantation genetic testing for concurrent Meckel Syndrome and hereditary breast cancer in a Chinese family harboring a novel NPHP3 pathogenic variant and a canonical BRCA2 frameshift variant. 一个携带新型NPHP3致病变异和典型BRCA2移码变异的中国家族并发梅克尔综合征和遗传性乳腺癌的植入前基因检测

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2026-09-07 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0063

Yiyuan Zhang, Xianjing Huang, Pingping Qiu, Hong Ji, Lu Ding, Xuemei He, Yingying Shi, Yanru Huang, Ping Li, Libin Mei

{"title":"Preimplantation genetic testing for concurrent Meckel Syndrome and hereditary breast cancer in a Chinese family harboring a novel NPHP3 pathogenic variant and a canonical BRCA2 frameshift variant.","authors":"Yiyuan Zhang, Xianjing Huang, Pingping Qiu, Hong Ji, Lu Ding, Xuemei He, Yingying Shi, Yanru Huang, Ping Li, Libin Mei","doi":"10.1590/1678-4685-GMB-2025-0063","DOIUrl":"10.1590/1678-4685-GMB-2025-0063","url":null,"abstract":"Meckel syndrome (MKS) is a lethal autosomal recessive disease with high phenotypic and genetic heterogeneity. Defects in NPHP3 cause MKS type 7. Herein, we report a case of a Chinese family with a newborn male proband presenting with occipital encephalocele and polycystic kidneys. Whole-exome sequencing was performed on genomic DNA extracted from peripheral blood. Potential variants were assessed for pathogenicity. Two compound heterozygous variants of NPHP3 (c. 950T>C, p. Phe317Ser, and c.2694-2_2694-1delAG) were identified, which were inherited from both parents, with c.950T>C representing a novel variant. Two BRCA2 variants (c.5576_5579delTTAA, p. Ile1859Lysfs*3, and c.9357A>C,p. Leu 3119 Phe) were identified, which were inherited from the father. After the proband was diagnosed with MKS7, the couple chose preimplantation genetic testing for monogenic disorders (PGT-M) to simultaneously prevent the transmission of NPHP3 and BRCA2 pathogenic variants, leading to a successful pregnancy. Our study expands the NPHP3 variant spectrum and contributes to the molecular diagnosis and genetic counseling of MKS. This case indicates that PGT-M is a viable option for NPHP3-related MKS and BRCA-positive patients to avoid transmission while maintaining their families. Successful application of PGT-M provides a potential approach for treating other monogenic diseases.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49 3","pages":"e20250063"},"PeriodicalIF":1.7,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13555780/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148911567","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

Genomic landscape of autism spectrum disorder in Brazil. 巴西自闭症谱系障碍的基因组图谱。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2026-09-07 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0247

Gabriele da Silva Campos, Claudia Ismania Samogy Costa, Jaqueline Yu Ting Wang, Ana Laura Ferraz, Ana Luiza Filippo, Victor Hugo Calegari de Toledo, Mayla Cristine Fortunata Silva, Carlos Henrique Passos, Diogo Meyer, Flavia Imbroisi Valle Errera, Helena Paula Brentani, Maria Rita Passos-Bueno

{"title":"Genomic landscape of autism spectrum disorder in Brazil.","authors":"Gabriele da Silva Campos, Claudia Ismania Samogy Costa, Jaqueline Yu Ting Wang, Ana Laura Ferraz, Ana Luiza Filippo, Victor Hugo Calegari de Toledo, Mayla Cristine Fortunata Silva, Carlos Henrique Passos, Diogo Meyer, Flavia Imbroisi Valle Errera, Helena Paula Brentani, Maria Rita Passos-Bueno","doi":"10.1590/1678-4685-GMB-2025-0247","DOIUrl":"10.1590/1678-4685-GMB-2025-0247","url":null,"abstract":"Genomic studies of autism spectrum disorder (ASD) have largely excluded admixed populations. To address this gap, we characterized the genomic landscape of ASD in Brazil by combining a systematic literature review with whole-exome sequencing analysis of 441 Brazilian individuals and their families. Our analysis revealed a conclusive molecular diagnosis in 13.1% of probands. The diagnostic yield was higher among individuals with clinical features, particularly comorbid signs of intellectual disability, hypotonia, and seizures, providing a basis for prioritizing genetic testing. The sample presented a diverse ancestry, with major European, African, and Native American contributions. Notably, more than half of the identified rare risk variants were located on non-European haplotypes. Both de novo and inherited variants contributed to ASD risk, and we reinforce NPAS3 as a candidate ASD risk gene. This study provides the first comprehensive genomic overview of ASD in a large Brazilian cohort, reinforcing the critical need to include diversely admixed populations in genomic research to expand the understanding of ASD architecture and improve diagnostic strategies in resource-limited settings.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49Suppl 1 Suppl 1","pages":"e20250247"},"PeriodicalIF":1.7,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13561403/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148929700","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

Mitochondria in SARS-CoV-2 infection: Immune interactions and molecular approaches in the Post COVID-19 condition. SARS-CoV-2感染中的线粒体：COVID-19后状态下的免疫相互作用和分子途径

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2026-08-28 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0118

Maria Clara Barros, Felipe Gouvêa de Souza, Helenize Costalat, Catarina Torres Pinho, Karina Carvalho Marques, Matheus Epifane-de-Assunção, Giovanna C Cavalcante, Luiz Fábio Magno Falcão, Juarez A S Quaresma, Ândrea Ribeiro-Dos-Santos

{"title":"Mitochondria in SARS-CoV-2 infection: Immune interactions and molecular approaches in the Post COVID-19 condition.","authors":"Maria Clara Barros, Felipe Gouvêa de Souza, Helenize Costalat, Catarina Torres Pinho, Karina Carvalho Marques, Matheus Epifane-de-Assunção, Giovanna C Cavalcante, Luiz Fábio Magno Falcão, Juarez A S Quaresma, Ândrea Ribeiro-Dos-Santos","doi":"10.1590/1678-4685-GMB-2025-0118","DOIUrl":"10.1590/1678-4685-GMB-2025-0118","url":null,"abstract":"Mutations in mitochondrial genes can disrupt key cellular functions and contribute to the development of various complex diseases. The pandemic of COVID-19, caused by the SARS-CoV-2 infection, has been associated as the cause of certain mitochondrial dysfunctions, including physiological and genetic due to infection processes as increased release of reactive oxygen species (ROS), formation of the NLR family pyrin domain containing 3 (NLRP3) inflammasome, mitophagy impairment and mitochondrial apoptotic pathway. This review compiled the main interactions between SARS-CoV-2 infection and mitochondria, highlighting mainly the genetic and immunological mechanisms that contribute to the progression of the disease and how the persistence of this inflammatory and dysfunctional state can lead to cardiac, muscular and neurological sequelae, characterizing the post COVID-19 condition.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49Suppl 4 Suppl 4","pages":"e20250118"},"PeriodicalIF":1.7,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13524222/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148850441","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

Exploring genetic diversity in genome-wide association studies and polygenic risk scores in the admixed Brazilian population. 探索遗传多样性的全基因组关联研究和多基因风险评分在混合巴西人口。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2026-08-24 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0235

Miriam Coelho Molck, Luciano Henrique Braz Dos Santos, Thais C de Oliveira, Iscia Lopes-Cendes

引用次数: 0

GenoTox Cell Counter: A mobile App to standardize cell counting in genotoxicity testing. gentox细胞计数器：一个移动应用程序，用于标准化基因毒性测试中的细胞计数。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2026-08-24 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0255

Gumercindo Pimentel-Peralta, Yennifer Alfaro, Juliana Da Silva

引用次数: 0