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The complete mitogenome of Argentina brasiliensis Kobyliansky, 2004 and a phylogenetic analyses of the order Argentiniformes.
IF 1.7 4区 生物学
Genetics and Molecular Biology Pub Date : 2024-12-06 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2024-0170
Claudio Oliveira, Heloísa De Cia Caixeta, Marcelo Roberto Souto de Melo
{"title":"The complete mitogenome of Argentina brasiliensis Kobyliansky, 2004 and a phylogenetic analyses of the order Argentiniformes.","authors":"Claudio Oliveira, Heloísa De Cia Caixeta, Marcelo Roberto Souto de Melo","doi":"10.1590/1678-4685-GMB-2024-0170","DOIUrl":"10.1590/1678-4685-GMB-2024-0170","url":null,"abstract":"<p><p>The deep sea environment is the largest environment and host some of the most extreme ecosystems on Earth, therefore, possessing a large and unique fish diversity that encompasses about 15% of all known species. Our knowledge about these fishes is still very limited in many biological fields basically due to the complexity to obtain specimens for research. In the present study, we describe the complete mitochondrial genome of Argentina brasiliensis, aiming a species characterization and the study of the phylogenetic relationships in the order Argentiniformes. The mitogenome is composed by 13 protein-coding genes, 2 rRNA genes, 22 tRNA genes, and a control region (D-loop), as found in other vertebrates. The phylogenetic results show that the order Argentiniformes is composed by two family groups the first formed by Argentinidae and Opisthoproctidae and the second formed by Bathylagidae and Microstomatidae. Additionally, we found that the genus Argentina is not monophyletic, and we suggest additional studies in the family Argentinidae to better investigate this question.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 4","pages":"e20240170"},"PeriodicalIF":1.7,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11629465/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142800441","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 first complete mitochondrial genome of sesame (Sesamum indicum L.).
IF 1.7 4区 生物学
Genetics and Molecular Biology Pub Date : 2024-12-02 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2024-0064
Mingcheng Wang, Rui Li, Xuchen Yang
{"title":"The first complete mitochondrial genome of sesame (Sesamum indicum L.).","authors":"Mingcheng Wang, Rui Li, Xuchen Yang","doi":"10.1590/1678-4685-GMB-2024-0064","DOIUrl":"10.1590/1678-4685-GMB-2024-0064","url":null,"abstract":"<p><p>Sesame (Sesamum indicum L.), an important oilseed crop, has garnered considerable interest. The nuclear and chloroplast genomes of sesame have been extensively applied to sesame genetics and genomics research. The mitochondrial (mt) genome of sesame, however, has not been sequenced and annotated. In order to solve this issue, we reconstructed the first mt genome of sesame using third-generation sequencing data. The sesame mt genome was 724,998 bp in size and had 22 circular chromosomes. A total of 66 genes were annotated, including 37 protein-coding genes, 26 transfer RNAs, and three ribosomal RNAs. We investigated the codon usage patterns, simple sequence repeats, long tandem repeats, and dispersed repeats of the sesame mt genome. Furthermore, we investigated the DNA transfer from chloroplast to mitochondrion and compared the sesame mt genome to two other Lamiales mt genomes. Given the economic importance of this crop, our presented sesame mt genome is a valuable genomic resource and will allow for more comprehensive studies on sesame and related species.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 4","pages":"e20240064"},"PeriodicalIF":1.7,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11613652/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142768164","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
High genetic structure of Spondias mombin in Brazil revealed with SNP markers.
IF 1.7 4区 生物学
Genetics and Molecular Biology Pub Date : 2024-12-02 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2024-0030
Allison Vieira da Silva, Caroline Bertocco Garcia, Igor Araújo Santos de Carvalho, Wellington Ferreira do Nascimento, Santiago Linorio Ferreyra Ramos, Doriane Picanço Rodrigues, Maria Imaculada Zucchi, Flaviane Malaquias Costa, Alessandro Alves-Pereira, Carlos Eduardo Batista, Edson Ferreira da Silva, Elizabeth Ann Veasey
{"title":"High genetic structure of Spondias mombin in Brazil revealed with SNP markers.","authors":"Allison Vieira da Silva, Caroline Bertocco Garcia, Igor Araújo Santos de Carvalho, Wellington Ferreira do Nascimento, Santiago Linorio Ferreyra Ramos, Doriane Picanço Rodrigues, Maria Imaculada Zucchi, Flaviane Malaquias Costa, Alessandro Alves-Pereira, Carlos Eduardo Batista, Edson Ferreira da Silva, Elizabeth Ann Veasey","doi":"10.1590/1678-4685-GMB-2024-0030","DOIUrl":"https://doi.org/10.1590/1678-4685-GMB-2024-0030","url":null,"abstract":"<p><p>Spondias mombin L. (Anacardiaceae) is an arboreal and allogamous fruit tree native from southern Mexico to southeastern Brazil, with great potential for economic exploitation. This study aimed to evaluate the structure and genomic diversity of yellow mombin accessions collected in nine locations in Brazil using Single Nucleotide Polymorphisms (SNP) markers. Significant genetic structure was observed in the discriminant analysis of principal components (DAPC) and dendrogram construction, in accordance with our hypotheses. The Mantel test identified a highly positive and significant correlation between geographic and genetic distances. The locations from the Amazon biome presented higher genetic diversity values when compared to those from the Atlantic Forest and Cerrado, which is expected considering the higher vulnerability of these biomes. However, although presenting greater genetic diversity, the Amazon biome showed positive inbreeding coefficients (F IS ) in three of the four locations, ranging from 0.0855 to 0.2421, indicating a potential risk of genetic erosion, possibly related to the increased degradation of this biome in recent decades. The results obtained contribute to the understanding of the distribution of genetic variation and conservation status of yellow mombin in Brazil. They could also be used as a subsidy for developing conservation strategies and the genetic improvement of this species.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 4","pages":"e20240030"},"PeriodicalIF":1.7,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142828068","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
Variants in inflammation-related genes influence the outcomes of physical exercise programs: A longitudinal study in Brazilian adolescents with overweight and obesity.
IF 1.7 4区 生物学
Genetics and Molecular Biology Pub Date : 2024-11-22 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0211
Ana Cláudia M B Gomes Torres, Neiva Leite, Ricardo Lehtonen Rodrigues de Souza, Juliana Pizzi, Gerusa Eisfeld Milano-Gai, Leilane Lazarotto, Luciane Viater Tureck, Lupe Furtado-Alle
{"title":"Variants in inflammation-related genes influence the outcomes of physical exercise programs: A longitudinal study in Brazilian adolescents with overweight and obesity.","authors":"Ana Cláudia M B Gomes Torres, Neiva Leite, Ricardo Lehtonen Rodrigues de Souza, Juliana Pizzi, Gerusa Eisfeld Milano-Gai, Leilane Lazarotto, Luciane Viater Tureck, Lupe Furtado-Alle","doi":"10.1590/1678-4685-GMB-2023-0211","DOIUrl":"10.1590/1678-4685-GMB-2023-0211","url":null,"abstract":"<p><p>The expansion of adipose tissue, characteristic of obesity, releases inflammatory cytokines, leading to metabolic disorders. Physical activity, on the other hand, promotes fat loss and changes inflammatory profile. This study aimed to investigate the associations of 20 gene variants (TLR2, TLR4, IL1B, IL6, NFKB1, TNF, NFKBIA, NLRC4, CARD8 and NEK7) with anthropometric and biochemical changes induced by physical exercise programs. Thus, 58 children and adolescents participated of the 12-week exercise programs. Parameters were collected before and after programs: body mass index, body fat percentage, LDL-C, HDL-C, triglycerides, total cholesterol, insulin, glucose, HOMA-IR and QUICKI. Changes in these parameters were calculated (final - initial measurements) for subsequent analyses. Linear regression analyses were performed to investigate associations between genotypes and changes in the analyzed parameters. We found associations between 14 variants in nine genes with anthropometrical and biochemical outcomes. Observing the distribution of the sample, the groups of individuals who responded less in relation to body fat and TG levels concentrated the highest scores of polygenic indexes as a result of a greater number of risk variants. In conclusion, some genotypes related to the inflammatory profile provided less favorable anthropometrical and biochemical outcomes in response to physical exercise programs.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 4","pages":"e20230211"},"PeriodicalIF":1.7,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11616735/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142778959","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: From bench to in silico and backwards: What have we done on genetics of recurrent pregnancy loss and implantation failure and where should we go next? 勘误:从工作台到硅学,再从硅学到工作台:我们在复发性妊娠失败和植入失败的遗传学方面做了哪些工作?
IF 1.7 4区 生物学
Genetics and Molecular Biology Pub Date : 2024-11-22 DOI: 10.1590/1678-4685-GMB-2023-0127er
{"title":"Erratum: From bench to in silico and backwards: What have we done on genetics of recurrent pregnancy loss and implantation failure and where should we go next?","authors":"","doi":"10.1590/1678-4685-GMB-2023-0127er","DOIUrl":"10.1590/1678-4685-GMB-2023-0127er","url":null,"abstract":"<p><p>[This corrects the article doi: 10.1590/1678-4685-GMB-2023-0127].</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 4","pages":"e202301127er"},"PeriodicalIF":1.7,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11588146/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715620","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
Phylogenomic Analysis of Dichrocephala benthamii and Comparative Analysis within Tribe Astereae (Asteraceae). Dichrocephala benthamii 的系统发生组分析和菊科(Asteraceae)内的比较分析。
IF 1.7 4区 生物学
Genetics and Molecular Biology Pub Date : 2024-10-21 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0340
Hui Chen, Tingyu Li, Xinyu Chen, Xinyi Zheng, Tianmeng Qu, Bo Li, Zhixi Fu
{"title":"Phylogenomic Analysis of Dichrocephala benthamii and Comparative Analysis within Tribe Astereae (Asteraceae).","authors":"Hui Chen, Tingyu Li, Xinyu Chen, Xinyi Zheng, Tianmeng Qu, Bo Li, Zhixi Fu","doi":"10.1590/1678-4685-GMB-2023-0340","DOIUrl":"https://doi.org/10.1590/1678-4685-GMB-2023-0340","url":null,"abstract":"<p><p>Dichrocephala benthamii C. B. Clarke has long been used as traditional Chinese medicine. However, the chloroplast (cp) genome of D. benthamii is poorly understood so far. In this study, we sequenced and analyzed the cp genome of D. benthamii. The results showed that the cp genome is 152,350 bp in length, with a pair of inverted repeat regions (IRa and IRb, each 24,982 bp), a large single-copy (LSC) region comprising 84,136 bp, and a small single-copy (SSC) region comprising 18,250 bp. The GC content of the cp genome was 37.3%. A total of 134 genes were identified, including 87 protein-coding genes (CDS), 38 tRNA genes, 8 rRNA genes, and 1 pseudogene (ycf1). Expansion or contraction of IR regions were detected in D. benthamii and other species of the tribe Astereae. Additionally, our analyses showed the types of sequence repeats and the highly variable regions discovered by analyzing the border regions, sequence divergence, and hot spots. The phylogenetic analysis revealed D. benthamii is the basal group of Astereae. The results of this study will be a significant contribution to the genetics and species identification related to D. benthamii.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 4","pages":"e20230340"},"PeriodicalIF":1.7,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495966/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142498597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The long-read assembly of Apareiodon sp., a neotropical fish with a ZZ/ZW sex chromosome system. 具有 ZZ/ZW 性染色体系统的新热带鱼 Apareiodon sp.
IF 1.7 4区 生物学
Genetics and Molecular Biology Pub Date : 2024-10-11 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2024-0098
Ivan Rodrigo Wolf, Michelle Orane Schemberger, Matheus Azambuja, Fernanda Souza de Oliveira, Viviane Nogaroto, Guilherme Targino Valente, Cesar Martins, Marcelo Ricardo Vicari
{"title":"The long-read assembly of Apareiodon sp., a neotropical fish with a ZZ/ZW sex chromosome system.","authors":"Ivan Rodrigo Wolf, Michelle Orane Schemberger, Matheus Azambuja, Fernanda Souza de Oliveira, Viviane Nogaroto, Guilherme Targino Valente, Cesar Martins, Marcelo Ricardo Vicari","doi":"10.1590/1678-4685-GMB-2024-0098","DOIUrl":"10.1590/1678-4685-GMB-2024-0098","url":null,"abstract":"<p><p>Neotropical fishes emerge as an extremely diverse group of vertebrates where genomic strategies to evaluate structural and functional features are still beginning. Here, we present a second draft genome of Apareiodon sp. (2n=54, ZZ/ZW), adding PacBio technology whole genome sequencing, and assembling by combining two technologies (long and short reads). Using a detailed strategy for genome assembly with fish genomes of Pygocentrus nattereri, Carassius auratus, and Astyanax mexicanus as references, the final assembly of the Apareiodon sp. genome generated 93 scaffolds, an N50 of 37,200,078 bases, and a size estimate considering 28 scaffolds (26 autosomes+ZW) of ~945 Mb. In Apareiodon sp., this second genome draft confirmed that ~36% of the genome is composed of repetitive DNA. Furthermore, the new draft genome has improved genomic quality assessments, allowing the annotation of 36,290 genes and 15,683 proteins, which presented similarities to reference genomes. The second draft genome of Apareiodon sp. will be useful for research on integrative cytogenetic and genomic data. It will open perspectives for analyzing sex-determining genes in Neotropical fish with a ZZ/ZW sex chromosome system.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 4","pages":"e20240098"},"PeriodicalIF":1.7,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11468460/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142406322","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
What we know so far and what we can expect next: A molecular investigation of plant parasitism. 我们目前所知道的和我们可以期待的下一步:植物寄生的分子研究。
IF 1.7 4区 生物学
Genetics and Molecular Biology Pub Date : 2024-09-30 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2024-0051
Juliane Karine Ishida, Elaine Cotrim Costa
{"title":"What we know so far and what we can expect next: A molecular investigation of plant parasitism.","authors":"Juliane Karine Ishida, Elaine Cotrim Costa","doi":"10.1590/1678-4685-GMB-2024-0051","DOIUrl":"10.1590/1678-4685-GMB-2024-0051","url":null,"abstract":"<p><p>The review explores parasitic plants' evolutionary success and adaptability, highlighting their widespread occurrence and emphasizing the role of an invasive organ called haustorium in nutrient acquisition from hosts. It discusses the genetic and physiological adaptations that facilitate parasitism, including horizontal gene transfer, and the impact of environmental factors like climate change on these relationships. It addresses the need for further research into parasitic plants' genomes and interactions with their hosts to better predict environmental changes' impacts.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47Suppl 1 Suppl 1","pages":"e20240051"},"PeriodicalIF":1.7,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11441458/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142344867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Lack of genotoxicity of iron oxide maghemite (γ-Fe2O3) and magnetite (Fe3O4) nanoparticles to Oreochromis niloticus after acute exposures. 氧化铁磁铁矿(γ-Fe2O3)和磁铁矿(Fe3O4)纳米粒子在急性暴露后对裸鲤无遗传毒性。
IF 1.7 4区 生物学
Genetics and Molecular Biology Pub Date : 2024-09-20 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB2023-0330
Maria Luiza Fascineli, Paolin Rocio Cáceres-Vélez, Willie Oliveira Pinheiro, Sacha Braun Chaves, Marcelo Henrique Sousa, Wilson Sacchi Peternella, Frederico Hillesheim Horst, Michele de Castro Fernandes, Wania Guimarães, Ricardo Bentes Azevedo, Cesar Koppe Grisolia
{"title":"Lack of genotoxicity of iron oxide maghemite (γ-Fe2O3) and magnetite (Fe3O4) nanoparticles to Oreochromis niloticus after acute exposures.","authors":"Maria Luiza Fascineli, Paolin Rocio Cáceres-Vélez, Willie Oliveira Pinheiro, Sacha Braun Chaves, Marcelo Henrique Sousa, Wilson Sacchi Peternella, Frederico Hillesheim Horst, Michele de Castro Fernandes, Wania Guimarães, Ricardo Bentes Azevedo, Cesar Koppe Grisolia","doi":"10.1590/1678-4685-GMB2023-0330","DOIUrl":"10.1590/1678-4685-GMB2023-0330","url":null,"abstract":"<p><p>Iron oxide nanoparticles (FeO-NPs) are widely used in scientific and technological fields. Environmental concerns have been raised about residual FeO-NPs levels as their toxicity and bioaccumulative potential are not well understood. Oreochromis niloticus were exposed to nanoparticles of γ-Fe2O3 and Fe3O4. Micro-CT 3D image and grayscale graphic assessments revealed the accumulation of radiopaque material in the digestive tract of fish exposed to FeO-NPs. Histological analysis showed the presence of such NPs in the hepatopancreas, gills, kidneys, and muscles. No genotoxicity occurred, through micronucleus test and comet assay in peripheral erythrocytes. Body clearance was confirmed by iron-content reduction in organisms exposed to FeO-NPs after recovery period. No tissue injuries were observed in the exposed animals which may be attributed to the absence or low toxicity of iron oxide nanoparticles under the study conditions. O. niloticus showed tolerance to sublethal exposures to FeO-NPs.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 3","pages":"e20230330"},"PeriodicalIF":1.7,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11559487/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142618179","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
Expression of the C-allele of intronic rs8192675 in SLC2A2 is associated with improved glucose response to metformin. SLC2A2 内含子 rs8192675 的 C-等位基因表达与改善葡萄糖对二甲双胍的反应有关。
IF 1.7 4区 生物学
Genetics and Molecular Biology Pub Date : 2024-09-20 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0281
Wanjun Wang, Suying Chen, Yilei Jiang, Jianhong Ji, Ruochen Cong
{"title":"Expression of the C-allele of intronic rs8192675 in SLC2A2 is associated with improved glucose response to metformin.","authors":"Wanjun Wang, Suying Chen, Yilei Jiang, Jianhong Ji, Ruochen Cong","doi":"10.1590/1678-4685-GMB-2023-0281","DOIUrl":"10.1590/1678-4685-GMB-2023-0281","url":null,"abstract":"<p><p>Glucose is a critical nutrient for energy metabolism. The SLC2A2 gene is essential for glucose sensing and homeostasis, as it encodes the facilitated glucose transporter GLUT2. During diabetes treatment, the C-allele of rs8192675 in SLC2A2 has been found to regulate the action of metformin and reduce the absolute level of HbA1c more effectively than the T-allele. In this study, stable HEK293T cell lines carrying the CC, CT, and TT genotypes of rs8192675 in SLC2A2 were generated using CRISPR/Cas9-mediated genome editing. GLUT2 mRNA and protein levels were elevated in cell clones with the TC genotype compared to those with the CC genotype but were reduced relative to the TT genotype. Additionally, high concentrations of glucose or fructose induced more GLUT2 protein production in CT-genotype cells than that induced in CC-genotype cells, yet less than that induced in TT-genotype cells. Metformin induced a greater increase in GLUT2 expression and a smaller increase in activated AMPK protein expression in CC-genotype cells than those induced in TT-genotype cells, resulting in a remarkable reduction in activated mTOR and S6 levels. This study directly supports the biological mechanism linking the C-allele of rs8192675 with improved treatment outcomes in metformin therapy for diabetes.</p>","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 3","pages":"e20230281"},"PeriodicalIF":1.7,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11559485/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142618166","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
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