Genetics and Molecular Biology最新文献_第8页

The good, the bad and the ugly of transposable elements annotation tools. 转座元件注释工具的好坏和丑陋。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2024-02-19 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0138

Elgion L S Loreto, Elverson S de Melo, Gabriel L Wallau, Tiago M F F Gomes

引用次数: 0

Reduced gene flow and bottleneck in the threatened giant armadillo (Priodontes maximus): implications for its conservation. 濒危巨型犰狳（Priodontes maximus）基因流动的减少和瓶颈：对其保护的影响。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-02-19 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0252

Nayra T Rodrigues, Bruno H Saranholi, Alexandre R Inforzato, Leandro Silveira, Arnaud Leonard Jean Desbiez, Pedro M Galetti

{"title":"Reduced gene flow and bottleneck in the threatened giant armadillo (Priodontes maximus): implications for its conservation.","authors":"Nayra T Rodrigues, Bruno H Saranholi, Alexandre R Inforzato, Leandro Silveira, Arnaud Leonard Jean Desbiez, Pedro M Galetti","doi":"10.1590/1678-4685-GMB-2023-0252","DOIUrl":"10.1590/1678-4685-GMB-2023-0252","url":null,"abstract":"The progressive fragmentation and loss of habitats represent the main threats for endangered species, causing genetic consequences that may have potential implications for a population's long-term persistence. Large mammals are the most affected species among vertebrates. The giant armadillo Priodontes maximus is a large South American mammal threatened species, showing nocturnal, solitary and fossorial behavior, occurring at low population densities, and its population dynamics are still poorly known. In this study, we carried out the first assessment of genetic variability and population genetic structure of the species, using a panel of 15 polymorphic microsatellites developed by high-throughput genome sequencing. The spatial Bayesian clustering, Fst and Dest results indicated the presence of two genetic clusters (K = 2) in the study area. These results suggest a reduction in gene flow between individuals inhabiting the Brazilian savanna (Cerrado) and the Pantanal wetlands, with the increased human-driven habitat modifications possibly contributing for this scenario. A bottleneck signal was detected in both populations, and a subpopulation structuring in the Cerrado may also be reflecting consequences of the extensive habitat modifications. Findings from this study provide important and useful information for the future maintenance of genetic diversity and long-term conservation of this flagship species.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 1","pages":"e20230252"},"PeriodicalIF":2.1,"publicationDate":"2024-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10917080/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140049218","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

bHLH-regulated routes in anther development in rice and Arabidopsis. 水稻和拟南芥花药发育过程中的 bHLH 调控途径。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-02-19 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0171

Francieli Ortolan, Thomaz Stumpf Trenz, Camila Luiza Delaix, Fernanda Lazzarotto, Marcia Margis-Pinheiro

{"title":"bHLH-regulated routes in anther development in rice and Arabidopsis.","authors":"Francieli Ortolan, Thomaz Stumpf Trenz, Camila Luiza Delaix, Fernanda Lazzarotto, Marcia Margis-Pinheiro","doi":"10.1590/1678-4685-GMB-2023-0171","DOIUrl":"10.1590/1678-4685-GMB-2023-0171","url":null,"abstract":"Anther development is a complex process essential for plant reproduction and crop yields. In recent years, significant progress has been made in the identification and characterization of the bHLH transcription factor family involved in anther regulation in rice and Arabidopsis, two extensively studied model plants. Research on bHLH transcription factors has unveiled their crucial function in controlling tapetum development, pollen wall formation, and other anther-specific processes. By exploring deeper into regulatory mechanisms governing anther development and bHLH transcription factors, we can gain important insights into plant reproduction, thereby accelerating crop yield improvement and the development of new plant breeding strategies. This review provides an overview of the current knowledge on anther development in rice and Arabidopsis, emphasizing the critical roles played by bHLH transcription factors in this process. Recent advances in gene expression analysis and functional studies are highlighted, as they have significantly enhanced our understanding of the regulatory networks involved in anther development.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"46 3 Suppl 1","pages":"e20230171"},"PeriodicalIF":2.1,"publicationDate":"2024-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10875983/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139899652","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

Boosting life sciences research in Brazil: building a case for a local Drosophila stock center. 促进巴西的生命科学研究：建立当地果蝇种群中心。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-02-19 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0202

Marcos T Oliveira, Lucas Anhezini, Helena M Araujo, Marcus F Oliveira, Carlos A Couto-Lima

{"title":"Boosting life sciences research in Brazil: building a case for a local Drosophila stock center.","authors":"Marcos T Oliveira, Lucas Anhezini, Helena M Araujo, Marcus F Oliveira, Carlos A Couto-Lima","doi":"10.1590/1678-4685-GMB-2023-0202","DOIUrl":"10.1590/1678-4685-GMB-2023-0202","url":null,"abstract":"Drosophila melanogaster is undoubtedly one of the most useful model organisms in biology. Initially used in solidifying the principles of heredity, and establishing the basic concepts of population genetics and of the synthetic theory of evolution, it can currently offer scientists much more: the possibility of investigating a plethora of cellular and biological mechanisms, from development and function of the immune system to animal neurogenesis, tumorigenesis and beyond. Extensive resources are available for the community of Drosophila researchers worldwide, including an ever-growing number of mutant, transgenic and genomically-edited lines currently carried by stock centers in North America, Europe and Asia. Here, we provide evidence for the importance of stock centers in sustaining the substantial increase in the output of Drosophila research worldwide in recent decades. We also discuss the challenges that Brazilian Drosophila scientists face to keep their research projects internationally competitive, and argue that difficulties in importing fly lines from international stock centers have significantly stalled the progression of all Drosophila research areas in the country. Establishing a local stock center might be the first step towards building a strong local Drosophila community that will likely contribute to all areas of life sciences research.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 1","pages":"e20230202"},"PeriodicalIF":2.1,"publicationDate":"2024-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10917079/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140049200","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

An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database. 在线数据库中可操作和潜在可操作的 TSC1 和 TSC2 基因变异概述。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-02-19 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0132

Arthur Bandeira de Mello Garcia, Guilherme Danielski Viola, Bruno da Silveira Corrêa, Taís da Silveira Fischer, Maria Clara de Freitas Pinho, Grazielle Motta Rodrigues, Patricia Ashton-Prolla, Clévia Rosset

{"title":"An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database.","authors":"Arthur Bandeira de Mello Garcia, Guilherme Danielski Viola, Bruno da Silveira Corrêa, Taís da Silveira Fischer, Maria Clara de Freitas Pinho, Grazielle Motta Rodrigues, Patricia Ashton-Prolla, Clévia Rosset","doi":"10.1590/1678-4685-GMB-2023-0132","DOIUrl":"10.1590/1678-4685-GMB-2023-0132","url":null,"abstract":"Tuberous Sclerosis Complex (TSC) is caused by loss of function germline variants in the TSC1 or TSC2 tumor suppressor genes. Genetic testing for the detection of pathogenic variants in either TSC1 or TSC2 was implemented as a diagnostic criterion for TSC. However, TSC molecular diagnosis can be challenging due to the absence of variant hotspots and the high number of variants described. This review aimed to perform an overview of TSC1/2 variants submitted in the ClinVar database. Variants of uncertain significance (VUS), missense and single nucleotide variants were the most frequent in clinical significance (37-40%), molecular consequence (37%-39%) and variation type (82%-83%) categories in ClinVar in TSC1 and TSC2 variants, respectively. Frameshift and nonsense VUS have potential for pathogenic reclassification if further functional and segregation studies were performed. Indeed, there were few functional assays deposited in the database and literature. In addition, we did not observe hotspots for variation and many variants presented conflicting submissions regarding clinical significance. This study underscored the importance of disseminating molecular diagnostic results in a public database to render the information largely accessible and promote accurate diagnosis. We encourage the performance of functional studies evaluating the pathogenicity of TSC1/2 variants.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"46 3 Suppl 1","pages":"e20230132"},"PeriodicalIF":2.1,"publicationDate":"2024-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10876083/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139905501","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

Shades of white: The Petunia long corolla tube clade evolutionary history. 白色的阴影矮牵牛长花冠筒支系的进化史。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-02-12 eCollection Date: 2024-01-01 DOI: 10.1590/1415-4757-GMB-2023-0279

Alice Backes, Caroline Turchetto, Geraldo Mäder, Ana Lúcia A Segatto, Sandro L Bonatto, Loreta B Freitas

{"title":"Shades of white: The Petunia long corolla tube clade evolutionary history.","authors":"Alice Backes, Caroline Turchetto, Geraldo Mäder, Ana Lúcia A Segatto, Sandro L Bonatto, Loreta B Freitas","doi":"10.1590/1415-4757-GMB-2023-0279","DOIUrl":"10.1590/1415-4757-GMB-2023-0279","url":null,"abstract":"Delimiting species is challenging in recently diverged species, and adaptive radiation is fundamental to understanding the evolutionary processes because it requires multiple ecological opportunities associated with adaptation to biotic and abiotic environments. The young Petunia genus (Solanaceae) is an excellent opportunity to study speciation because of its association with pollinators and unique microenvironments. This study evaluated the phylogenetic relationships among a Petunia clade species with different floral syndromes that inhabit several environments. We based our work on multiple individuals per lineage and employed nuclear and plastid phylogenetic markers and nuclear microsatellites. The phylogenetic tree revealed two main groups regarding the elevation of the distribution range, whereas microsatellites showed high polymorphism-sharing splitting lineages into three clusters. Isolation by distance, migration followed by new environment colonization, and shifts in floral syndrome were the motors for lineage differentiation, including infraspecific structuring, which suggests the need for taxonomic revision in the genus.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 1","pages":"e20230279"},"PeriodicalIF":2.1,"publicationDate":"2024-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10882218/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139930794","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

Investigating the evolutionary dynamics of diploid number variation in Ctenomys (Ctenomyidae, Rodentia). 研究栉水母（栉水母科，啮齿目）二倍体数量变异的进化动态。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-02-05 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0180

Thays Duarte de Oliveira, Thales R O de Freitas

{"title":"Investigating the evolutionary dynamics of diploid number variation in Ctenomys (Ctenomyidae, Rodentia).","authors":"Thays Duarte de Oliveira, Thales R O de Freitas","doi":"10.1590/1678-4685-GMB-2023-0180","DOIUrl":"10.1590/1678-4685-GMB-2023-0180","url":null,"abstract":"Contrary to predictions from classical hybrid sterility models of chromosomal speciation, some organisms display high rates of karyotype variation. Ctenomys are the current mammals with the greatest interspecific and intraspecific chromosomal variation. A large number of species have been studied cytogenetically. The diploid numbers of chromosomes range from 2n = 10 to 2n = 70. Here, we analyzed karyotype evolution in Ctenomys using comparative phylogenetic methods. We found a strong phylogenetic signal with chromosome number. This refutes the chromosomal megaevolution model, which proposes the independent accumulation of multiple chromosomal rearrangements in each closely related species. We found that Brownian motion (BM) described the observed characteristic changes more thoroughly than the Ornstein-Uhlenbeck and Early-Burst models. This suggests that the evolution of chromosome numbers occurs by a random walk along phylogenetic clades. However, our data indicate that the BM model alone does not fully characterize the chromosomal evolution of Ctenomys.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"46 3 Suppl 1","pages":"e20230180"},"PeriodicalIF":2.1,"publicationDate":"2024-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842476/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139691632","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

DOF gene family expansion and diversification. DOF 基因家族的扩展和多样化。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-02-05 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0109

Edgar Luis Waschburger, João Pedro Carmo Filgueiras, Andreia Carina Turchetto-Zolet

{"title":"DOF gene family expansion and diversification.","authors":"Edgar Luis Waschburger, João Pedro Carmo Filgueiras, Andreia Carina Turchetto-Zolet","doi":"10.1590/1678-4685-GMB-2023-0109","DOIUrl":"10.1590/1678-4685-GMB-2023-0109","url":null,"abstract":"DOF (DNA binding with one finger) proteins are part of a plant-specific transcription factor (TF) gene family widely involved in plant development and stress responses. Many studies have uncovered their structural and functional characteristics in recent years, leading to a rising number of genome-wide identification study approaches, unveiling the DOF family expansion in angiosperm species. Nonetheless, these studies primarily concentrate on particular taxonomic groups. Identifying DOF TFs within less-represented groups is equally crucial, as it enhances our comprehension of their evolutionary history, contributions to plant phenotypic diversity, and role in adaptation. This review summarizes the main findings and progress of genome-wide identification and characterization studies of DOF TFs in Viridiplantae, exposing their roles as players in plant adaptation and a glimpse of their evolutionary history. We also present updated data on the identification and number of DOF genes in native and wild species. Altogether, these data, comprising a phylogenetic analysis of 2124 DOF homologs spanning 83 different species, will contribute to identifying new functional DOF groups, adding to our understanding of the mechanisms driving plant evolution and offering valuable insights into their potential applications.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"46 3 Suppl 1","pages":"e20230109"},"PeriodicalIF":2.1,"publicationDate":"2024-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842470/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139691631","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

Transcriptional signature of host shift in the seed beetle Zabrotes subfasciatus. 种子甲虫 Zabrotes subfasciatus 宿主转移的转录特征。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-02-05 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0148

Pedro Augusto da Pos Rodrigues, Juliana Ramos Martins, Bianca Corrêa Capizzani, Lucas Takashi Araujo Hamasaki, Zilá Luz Paulino Simões, Isabel Ribeiro do Valle Teixeira, Angel Roberto Barchuk

{"title":"Transcriptional signature of host shift in the seed beetle Zabrotes subfasciatus.","authors":"Pedro Augusto da Pos Rodrigues, Juliana Ramos Martins, Bianca Corrêa Capizzani, Lucas Takashi Araujo Hamasaki, Zilá Luz Paulino Simões, Isabel Ribeiro do Valle Teixeira, Angel Roberto Barchuk","doi":"10.1590/1678-4685-GMB-2023-0148","DOIUrl":"10.1590/1678-4685-GMB-2023-0148","url":null,"abstract":"In phytophagous insects, adaptation to a new host is a dynamic process, in which early and later steps may be underpinned by different features of the insect genome. Here, we tested the hypothesis that early steps of this process are underpinned by a shift in gene expression patterns. We set up a short-term artificial selection experiment (10 generations) for the use of an alternative host (Cicer arietinum) on populations of the bean beetle Zabrotes subfasciatus. Using Illumina sequencing on young adult females, we show the selected populations differ in the expression of genes associated to stimuli, signalling, and developmental processes. Particularly, the \"C. arietinum\" population shows upregulation of histone methylation genes, which may constitute a strategy for fine-tuning the insect global gene expression network. Using qPCR on body regions, we demonstrated that the \"Phaseolus vulgaris\" population upregulates the genes polygalacturonase and egalitarian and that the expression of an odorant receptor transcript variant changes over generations. Moreover, in this population we detected the existence of vitellogenin (Vg) variants in both males and females, possibly harbouring canonical reproductive function in females and extracellular unknown functions in males. This study provides the basis for future genomic investigations seeking to shed light on the nature of the proximate mechanisms involved in promoting differential gene expression associated to insect development and adaptation to new hosts.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 1","pages":"e20230148"},"PeriodicalIF":2.1,"publicationDate":"2024-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10851049/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139691634","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

Erratum: Neonatal screening for spinal muscular atrophy: A pilot study in Brazil. 勘误：新生儿脊髓性肌萎缩症筛查：巴西试点研究。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-02-02 DOI: 10.1590/1678-4685-GMB-2023-0126er

引用次数: 0