Genetics and Molecular Biology最新文献_第6页

Mitochondrion genomes of seven species of the endangered genus Sporophila (Passeriformes: Thraupidae) 濒临灭绝的孢子蝇属（雀形目：Thraupidae）七个物种的线粒体基因组

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-04-05 DOI: 10.1590/1678-4685-GMB-2023-0172

A. A. Melo-Ximenes, L. C. Corvalán, L. R. Carvalho, Thalita Alves Mangini, M. B. Sobreiro, L. D. Vieira, R. O. Dias, C. M. S. Silva Neto, M. P. C. Telles, R. Nunes

{"title":"Mitochondrion genomes of seven species of the endangered genus Sporophila (Passeriformes: Thraupidae)","authors":"A. A. Melo-Ximenes, L. C. Corvalán, L. R. Carvalho, Thalita Alves Mangini, M. B. Sobreiro, L. D. Vieira, R. O. Dias, C. M. S. Silva Neto, M. P. C. Telles, R. Nunes","doi":"10.1590/1678-4685-GMB-2023-0172","DOIUrl":"https://doi.org/10.1590/1678-4685-GMB-2023-0172","url":null,"abstract":"Abstract We announce the mitochondrial genomes of seven species of the genus Sporophila (S. bouvreuil, S. iberaensis, S. melanogaster, S. minuta, S. nigrorufa, S. pileata, and S. ruficollis) which were validated by comparative genomic and phylogenetic analysis with related species. The mitochondrial genomes of seven passerines of the genus Sporophila were assembled (three complete and four nearly complete genomes) and were validated by reconstructing phylogenetic relations within Thraupidae. The complete mitogenomes ranged from 16,781 bp in S. ruficollis to 16,791 bp in S. minuta. We identified a conserved genome composition within all mitogenomes with 13 protein-coding genes, 22 tRNAs and two rRNAs. We observed a bias in the nucleotide composition and six mutational hotspots in Sporophila mitogenomes. Our mitogenome-based phylogenetic tree has S. minuta, S. maximiliani and S. nigricollis as sister species of the remaining species in the genus. We present new mitogenome sequences for seven Sporophila species, providing new genomic resources that may be useful for research on the evolution, comparative genetics, and conservation of this threatened group.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140737506","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

Horizontal transfer and the widespread presence of Galileo transposons in Drosophilidae (Insecta: Diptera). 果蝇科（昆虫纲：双翅目）中的水平转移和伽利略转座子的广泛存在。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-03-29 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0143

Henrique R M Antoniolli, Sebastián Pita, Maríndia Deprá, Vera L S Valente

{"title":"Horizontal transfer and the widespread presence of Galileo transposons in Drosophilidae (Insecta: Diptera).","authors":"Henrique R M Antoniolli, Sebastián Pita, Maríndia Deprá, Vera L S Valente","doi":"10.1590/1678-4685-GMB-2023-0143","DOIUrl":"https://doi.org/10.1590/1678-4685-GMB-2023-0143","url":null,"abstract":"Galileo is a transposon notoriously involved with inversions in Drosophila buzzatii by ectopic recombination. Although widespread in Drosophila, little is known about this transposon in other lineages of Drosophilidae. Here, the abundance of the canonical Galileo and its evolutionary history in Drosophilidae genomes was estimated and reconstructed across genera within its two subfamilies. Sequences of this transposon were masked in these genomes and their transposase sequences were recovered using BLASTn. Phylogenetic analyses were employed to reconstruct their evolutionary history and compare it to that of host genomes. Galileo was found in nearly all 163 species, however, only 37 harbored nearly complete transposase sequences. In the remaining, Galileo was found highly fragmented. Copies from related species were clustered, however horizontal transfer events were detected between the melanogaster and montium groups of Drosophila, and between the latter and the Lordiphosa genus. The similarity of sequences found in the virilis and willistoni groups of Drosophila was found to be a consequence of lineage sorting. Therefore, the evolution of Galileo is primarily marked by vertical transmission and long-term inactivation, mainly through the deletion of open reading frames. The latter has the potential to lead copies of this transposon to become miniature inverted-repeat transposable elements.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10990002/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140857808","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

Association between cystic fibrosis transmembrane regulator genotype and clinical outcomes, glucose homeostasis indices and CF-related diabetes risk in adults with CF. 囊性纤维化跨膜调节因子基因型与 CF 成人患者的临床结果、葡萄糖稳态指数和 CF 相关糖尿病风险之间的关系。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-03-29 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0021

Noémie Bélanger, Anne Bonhoure, Tamizan Kherani, Valérie Boudreau, François Tremblay, Annick Lavoie, Maite Carricart, Ashish Marwaha, Rémi Rabasa-Lhoret, Kathryn J Potter

{"title":"Association between cystic fibrosis transmembrane regulator genotype and clinical outcomes, glucose homeostasis indices and CF-related diabetes risk in adults with CF.","authors":"Noémie Bélanger, Anne Bonhoure, Tamizan Kherani, Valérie Boudreau, François Tremblay, Annick Lavoie, Maite Carricart, Ashish Marwaha, Rémi Rabasa-Lhoret, Kathryn J Potter","doi":"10.1590/1678-4685-GMB-2023-0021","DOIUrl":"10.1590/1678-4685-GMB-2023-0021","url":null,"abstract":"People living with cystic fibrosis (pwCF) homozygous for F508del present more severe phenotypes. PwCF with compound heterozygous genotypes F508del /A455E and F508del /L206W may have milder cystic fibrosis (CF) phenotypes. We compared F508del homozygotes and common compound heterozygotes (F508del and a second pathogenic variant) in adult patients. Nutritional, pulmonary function and glucose homeostasis indices data were collected from the prospective Montreal CF cohort. Two-hundred and three adults with CF having at least one F508del variant were included. Individuals were divided into subgroups: homozygous F508del/F508del (n=149); F508del/621+1G>T (n=17); F508del/711+1G>T (n=11); F508del/A455E (n=12); and F508del/L206W (n=14). Subgroups with the F508del/L206W and F508del/A455E had a lower proportion with pancreatic exocrine insufficiency (p<0.0001), a higher fat mass (p<0.0001), and lower glucose area under the curve (AUC) (p=0.027). The F508del/L206W subgroup had significantly higher insulin secretion (AUC; p=0.027) and body mass index (p<0.001). Pulmonary function (FEV1) was significantly higher for the F508del/L206W subgroup (p<0.0001). Over a median of 7.37 years, the risk of developing CFRD in 141 patients was similar between groups. PwCF with heterozygous F508del/L206W and F508del/A455E tended to have pancreatic exocrine sufficiency, better nutritional status, improved pulmonary function and better diabetogenic indices, but this does not translate into lower risk of CF-related Diabetes.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10993309/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140335301","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

Karyotypic characterization of Centromochlus schultzi Rössel 1962 (Auchenipteridae, Centromochlinae) from the Xingu River basin: New inferences on chromosomal evolution in Centromochlus. Xingu 河流域 Centromochlus schultzi Rössel 1962（Auchenipteridae，Centromochlinae）的核型特征：Centromochlus 染色体进化的新推论。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-03-25 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0105

Samantha Kowalski, Chrystian Aparecido Grillo Haerter, Diana Paula Perin, Fábio Hiroshi Takagui, Patrik Ferreira Viana, Eliana Feldberg, Daniel Rodrigues Blanco, Josiane Baccarin Traldi, Lucia Giuliano-Caetano, Roberto Laridondo Lui

{"title":"Karyotypic characterization of Centromochlus schultzi Rössel 1962 (Auchenipteridae, Centromochlinae) from the Xingu River basin: New inferences on chromosomal evolution in Centromochlus.","authors":"Samantha Kowalski, Chrystian Aparecido Grillo Haerter, Diana Paula Perin, Fábio Hiroshi Takagui, Patrik Ferreira Viana, Eliana Feldberg, Daniel Rodrigues Blanco, Josiane Baccarin Traldi, Lucia Giuliano-Caetano, Roberto Laridondo Lui","doi":"10.1590/1678-4685-GMB-2023-0105","DOIUrl":"10.1590/1678-4685-GMB-2023-0105","url":null,"abstract":"Centromochlinae is a widely diverse subfamily with more than 50 species and several taxonomic conflicts due to morphological similarity between Tatia and Centromochlus species. However, cytogenetic studies on this group have been limited to only four species so far. Therefore, here we present the karyotype of Centromochlus schultzi from the Xingu River in Brazil using classic cytogenetic techniques, physical mapping of the 5S and 18S rDNAs, and telomeric sequences (TTAGGG)n. The species had 58 chromosomes, simple NORs and 18S rDNA sites. Heterochromatic regions were detected on the terminal position of most chromosomes, including pericentromeric and centromeric blocks that correspond to interstitial telomeric sites. The 5S rDNA had multiple sites, including a synteny with the 18S rDNA in the pair 24st, which is an ancestral feature for Doradidae, sister group of Auchenipteridae, but appears to be a homoplastic trait in this species. So far, C. schultzi is only the second species within Centromochlus to be karyotyped, but it has already presented characteristics with great potential to assist in future discussions on taxonomic issues in the subfamily Centromochlinae, including the first synteny between rDNAs in Auchenipteridae and also the presence of heterochromatic ITSs that could represent remnants of ancient chromosomal fusions.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10993310/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140293336","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

Group I introns: Structure, splicing and their applications in medical mycology. I 组内含子：结构、剪接及其在医学真菌学中的应用。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-03-25 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0228

Ronald Muryellison Oliveira da Silva Gomes, Kássia Jéssica Galdino da Silva, Raquel Cordeiro Theodoro

引用次数: 0

Integrative network analysis of differentially methylated regions to study the impact of gestational weight gain on maternal metabolism and fetal-neonatal growth. 通过对不同甲基化区域的整合网络分析，研究妊娠体重增加对母体代谢和胎儿-新生儿生长的影响。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-03-25 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0203

Perla Pizzi Argentato, João Victor da Silva Guerra, Liania Alves Luzia, Ester Silveira Ramos, Mariana Maschietto, Patrícia Helen de Carvalho Rondó

{"title":"Integrative network analysis of differentially methylated regions to study the impact of gestational weight gain on maternal metabolism and fetal-neonatal growth.","authors":"Perla Pizzi Argentato, João Victor da Silva Guerra, Liania Alves Luzia, Ester Silveira Ramos, Mariana Maschietto, Patrícia Helen de Carvalho Rondó","doi":"10.1590/1678-4685-GMB-2023-0203","DOIUrl":"10.1590/1678-4685-GMB-2023-0203","url":null,"abstract":"Integrative network analysis (INA) is important for identifying gene modules or epigenetically regulated molecular pathways in diseases. This study evaluated the effect of excessive gestational weight gain (EGWG) on INA of differentially methylated regions, maternal metabolism and offspring growth. Brazilian women from \"The Araraquara Cohort Study\" with adequate pre-pregnancy body mass index were divided into EGWG (n=30) versus adequate gestational weight gain (AGWG, n=45) groups. The methylome analysis was performed on maternal blood using the Illumina MethylationEPIC BeadChip. Fetal-neonatal growth was assessed by ultrasound and anthropometry, respectively. Maternal lipid and glycemic profiles were investigated. Maternal triglycerides-TG (p=0.030) and total cholesterol (p=0.014); fetus occipito-frontal diameter (p=0.005); neonate head circumference-HC (p=0.016) and thoracic perimeter (p=0.020) were greater in the EGWG compared to the AGWG group. Multiple linear regression analysis showed that maternal DNA methylation was associated with maternal TG and fasting insulin, fetal abdominal circumference, and fetal and neonate HC. The DMRs studied were enriched in 142 biological processes, 21 molecular functions,and 17 cellular components with terms directed for the fatty acids metabolism. Three DMGMs were identified:COL3A1, ITGA4 and KLRK1. INA targeted chronic diseases and maternal metabolism contributing to an epigenetic understanding of the involvement of GWG in maternal metabolism and fetal-neonatal growth.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10993311/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140293335","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

C4 Phosphoenolpyruvate Carboxylase: Evolution and transcriptional regulation. C4 磷酸烯醇丙酮酸羧化酶：进化与转录调控

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-03-22 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0190

Pedro Carvalho, Célia Gomes, Nelson J M Saibo

{"title":"C4 Phosphoenolpyruvate Carboxylase: Evolution and transcriptional regulation.","authors":"Pedro Carvalho, Célia Gomes, Nelson J M Saibo","doi":"10.1590/1678-4685-GMB-2023-0190","DOIUrl":"10.1590/1678-4685-GMB-2023-0190","url":null,"abstract":"Photosynthetic phosphoenolpyruvate carboxylase (PEPC) catalyses the irreversible carboxylation of phosphoenolpyruvate (PEP), producing oxaloacetate (OAA). This enzyme catalyses the first step of carbon fixation in C4 photosynthesis, contributing to the high photosynthetic efficiency of C4 plants. PEPC is also involved in replenishing tricarboxylic acid cycle intermediates, such as OAA, being involved in the C/N balance. In plants, PEPCs are classified in two types: bacterial type (BTPC) and plant-type (PTPC), which includes photosynthetic and non-photosynthetic PEPCs. During C4 evolution, photosynthetic PEPCs evolved independently. C4 PEPCs evolved to be highly expressed and active in a spatial-specific manner. Their gene expression pattern is also regulated by developmental cues, light, circadian clock as well as adverse environmental conditions. However, the gene regulatory networks controlling C4 PEPC gene expression, namely its cell-specificity, are largely unknown. Therefore, after an introduction to the evolution of PEPCs, this review aims to discuss the current knowledge regarding the transcriptional regulation of C4 PEPCs, focusing on cell-specific and developmental expression dynamics, light and circadian regulation, as well as response to abiotic stress. In conclusion, this review aims to highlight the evolution, transcriptional regulation by different signals and importance of PEPC in C4 photosynthesis and its potential as tool for crop improvement.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10958771/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140184192","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

Discovery of novel genetic syndromes in Latin America: Opportunities and challenges. 拉丁美洲新型遗传综合征的发现：机遇与挑战。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2024-03-11 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0318

Víctor Faundes, Gabriela M Repetto, Leonardo E Valdivia

引用次数: 0

Disease progression in Sanfilippo type B: Case series of Brazilian patients. 圣菲利波 B 型的疾病进展：巴西患者病例系列。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-03-08 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0285

Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel-Giugliani, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso-Dos-Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto E Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar

{"title":"Disease progression in Sanfilippo type B: Case series of Brazilian patients.","authors":"Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel-Giugliani, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso-Dos-Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto E Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar","doi":"10.1590/1678-4685-GMB-2023-0285","DOIUrl":"10.1590/1678-4685-GMB-2023-0285","url":null,"abstract":"Mucopolysaccharidosis type IIIB (MPS IIIB) is caused by deficiency of alpha-N-acetylglucosaminidase, leading to storage of heparan sulphate. The disease is characterized by intellectual disability and hyperactivity, among other neurological and somatic features. Here we studied retrospective data from a total of 19 MPS IIIB patients from Brazil, aiming to evaluate disease progression. Mean age at diagnosis was 7.2 years. Speech delay was one of the first symptoms to be identified, around 2-3 years of age. Behavioral alterations include hyperactivity and aggressiveness, starting around age four. By the end of the first decade, patients lost acquired abilities such as speech and ability to walk. Furthermore, as disease progresses, respiratory, cardiovascular and joint abnormalities were found in more than 50% of the patients, along with organomegaly. Most common cause of death was respiratory problems. The disease progression was characterized in multiple systems, and hopefully these data will help the design of appropriate clinical trials and clinical management guidelines.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10941728/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140131170","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

Uncovering a novel mechanism: Butyrate induces estrogen receptor alpha activation independent of estrogen stimulation in MCF-7 breast cancer cells. 发现一种新机制：丁酸盐在 MCF-7 乳腺癌细胞中诱导雌激素受体 alpha 激活，而不依赖于雌激素刺激。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-03-08 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0110

Veronica Dayali Gutierrez-Martinez, Alfonso León-Del-Río, Abelardo Camacho-Luis, Victor Manuel Ayala-Garcia, Angélica María Lopez-Rodriguez, Estela Ruiz-Baca, Ivan Meneses-Morales

{"title":"Uncovering a novel mechanism: Butyrate induces estrogen receptor alpha activation independent of estrogen stimulation in MCF-7 breast cancer cells.","authors":"Veronica Dayali Gutierrez-Martinez, Alfonso León-Del-Río, Abelardo Camacho-Luis, Victor Manuel Ayala-Garcia, Angélica María Lopez-Rodriguez, Estela Ruiz-Baca, Ivan Meneses-Morales","doi":"10.1590/1678-4685-GMB-2023-0110","DOIUrl":"10.1590/1678-4685-GMB-2023-0110","url":null,"abstract":"Butyrate is a promising candidate for an antitumoral drug, as it promotes cancer cell apoptosis and reduces hormone receptor activity, while promoting differentiation and proliferation in normal cells. However, the effects of low-dose butyrate on breast cancer cell cultures are unclear. We explored the impact of sub-therapeutic doses of butyrate on estrogen receptor alpha (ERα) transcriptional activity in MCF-7 cells, using RT-qPCR, Western blot, wound-healing assays, and chromatin immunoprecipitation. Our results showed that sub-therapeutic doses of sodium butyrate (0.1 - 0.2 mM) increased the transcription of ESR1, TFF1, and CSTD genes, but did not affect ERα protein levels. Moreover, we observed an increase in cell migration in wound-healing assays. ChIP assays revealed that treatment with 0.1 mM of sodium butyrate resulted in estrogen-independent recruitment of ERα at the pS2 promoter and loss of NCoR. Appropriate therapeutic dosage of butyrate is essential to avoid potential adverse effects on patients' health, especially in the case of estrogen receptor-positive breast tumors. Sub-therapeutic doses of butyrate may induce undesirable cell processes, such as migration due to low-dose butyrate-mediated ERα activation. These findings shed light on the complex effects of butyrate in breast cancer and provide insights for research in the development of antitumoral drugs.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10941730/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140131174","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