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Background: Oxidative Balance Score (OBS) is a novel indicator of the overall antioxidant/oxidant balance, providing a comprehensive reflection of the body's overall oxidative stress status, with higher OBS suggesting more substantial antioxidant exposures. We aimed to investigate the possible relationship between OBS with serum uric acid (SUA) and hyperuricemia. Methods: Data utilized in this study were sourced from the 2011-2018 National Health and Nutrition Examination Survey (NHANES). Participants under 18 years old, those with ≤16 complete data out of 20 OBS components, incomplete serum uric acid data, and missing covariates were excluded from the analysis. OBS was computed by evaluating 16 nutrients and 4 lifestyle factors, encompassing 5 pro-oxidants and 15 antioxidants, guided by a priori knowledge of their relationship with oxidative stress. Results: A total of 1,5096 individuals were included in our analysis with 49.7% being male, and an average age of 49.05 ± 17.56 years. The mean OBS was 19.76 ± 7.17. Hyperuricemia was present in 19.28% of participants. Due to the right-skewed distribution of the OBS, a natural log transformation was applied to address this issue, and Quartiles of lnOBS 1, 2, 3, and 4 were 1.10-2.56 (N=3526), 2.64-2.94 (N=3748), 3.00-3.22 (N=4026), and 3.26-3.61 (N=3796), respectively. Multivariable logistic regression showed that higher lnOBS quantiles were correlated with lower serum uric acid levels. Compared with the lowest lnOBS quantile, participants in the highest lnOBS quantile had a significant serum uric acid decrease of 16.94 µmol/L for each unit increase in lnOBS (ß=-16.94, 95% CI: -20.44, -13.45). Similar negative associations were observed in the second-highest (ß=-8.07, 95% CI: -11.45, -4.69) and third-highest (ß=-11.69, 95% CI: -15.05, -8.34) lnOBS quantiles. The adjusted odds ratios (ORs) for hyperuricemia in Quartiles 1, 2, 3, and 4 were 1.00, 0.84 (95% CI: 0.75, 0.95), 0.78 (95% CI: 0.69, 0.88), and 0.62 (95% CI: 0.55, 0.71), respectively. Compared to Quartile 1, participants in Quartile 4 had a 38% lower prevalence of hyperuricemia. Subgroup analysis and interaction test showed that there was a significant dependence of sex between OBS and serum uric acid (p for interaction <0.05), but not hyperuricemia (p for interaction >0.05). Subgroup analysis stratified by age, BMI, hypertension, diabetes, and hyperlipidemia showed there is no significant dependence on these negative correlations (all p for interaction >0.05). Conclusions: The serum uric acid levels and prevalence of hyperuricemia in US adults exhibited a negative association with OBS. By exploring this connection, our research aims to gain a better understanding of how oxidative balance affects the prevalence of hyperuricemia. This could provide valuable insights for developing preventive strategies and interventions for hyperuricemia. Additional large-scale prospective studies are required to explore the role of OBS in hyperuricemia further.
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Hiperuricemia , Inquéritos Nutricionais , Estresse Oxidativo , Ácido Úrico , Humanos , Hiperuricemia/sangue , Hiperuricemia/epidemiologia , Ácido Úrico/sangue , Masculino , Feminino , Pessoa de Meia-Idade , Adulto , Idoso , Antioxidantes/metabolismo , Estudos Transversais , Biomarcadores/sangue , Estados Unidos/epidemiologiaRESUMO
Brassica vegetables exhibit pronounced heterosis; nevertheless, investigations on fertility-related genes are scarce. The present study scrutinized a recessive genic male-sterile line, 7-3A, capable of generating a completely sterile population, holding significant promise for flowering Chinese cabbage breeding. By whole-genome resequencing of sterile and fertile plants, the male-sterile gene was confined to approximately 185 kb on chromosome A07, situated between markers C719 and NP10 in Brassica rapa var. Chiifu-401. Notably, substantial structural variation was identified within this region across diverse Brassica rapa reference genomes. Despite discernible expression level disparities of a homologous gene, Bnams4b, between male sterile and fertile plants, no sequence divergence was detected. Further elucidation is required to pinpoint a novel sterile gene within the candidate interval. This investigation contributes to the advancement of both the molecular-assisted breeding scheme for flowering Chinese cabbage and the comprehension of male sterility mechanisms. Supplementary Information: The online version contains supplementary material available at 10.1007/s13205-024-04005-7.
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Renal hypouricemia (RHUC) is a rare autosomal recessive disorder characterized by impaired renal tubular uric acid reabsorption and abnormally high uric acid clearance, which may be manifested by reduced serum uric acid (SUA) levels and elevated fractional excretion of uric acid (FE-UA >10%). Most RHUC patients are often asymptomatic or have accidentally decreased SUA levels during health examinations, while others develop kidney stones and exercise-induced acute kidney injury (EIAKI). We now report a case of RHUC complicated with an asymptomatic kidney stone, and we identified a heterozygous mutation of c.269G > A (p.R90H) and a novel heterozygous mutation of c.674C > G (p.T225R) in the SLC22A12 gene in the patient through whole exon gene detection (NGS method). This case offers valuable insights into the mechanisms, clinical management, and prognosis of RHUC and its associated complications.
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BACKGROUND: The insufficient number of general practitioners (GPs) is a major challenge facing China's healthcare system. The purpose of the GP transfer training programme was to provide training for experienced doctors to transition to general practice. However, research on the competencies of GP transfer training trainers in teaching skills in China is limited. This cross-sectional study aimed to examine the baseline familiarity with teaching skills among Chinese GP transfer training trainers. METHODS: An online survey was conducted among trainers who participated in the 2021 Sichuan Province General Practice Training Trainer Program. The survey collected data on participants' characteristics and familiarity with 20 skills in three essential teaching knowledge areas: the core functions of primary care (five questions), preparation for lesson plan (four questions), and teaching methods (11 questions). RESULTS: In total, 305 participants completed the survey. Familiarity rates were generally low across all three essential teaching knowledge areas. No significant differences were observed in familiarity rates between the tertiary and secondary hospitals. CONCLUSION: This study revealed gaps in the teaching skills of GP transfer training trainers in China. These results suggest the necessity for targeted training programs to enhance the teaching skills and competencies of trainers.
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Medicina Geral , Clínicos Gerais , Humanos , Estudos Transversais , Medicina Geral/educação , Medicina de Família e Comunidade/educação , China , EnsinoRESUMO
The implementation of shared decision making (SDM) in management of sarcopenia is still in its nascent stage, especially compared to other areas of medical research. Accumulating evidence has highlighted the importance of SDM in older adults care. The current study overviews general SDM practices and explores the potential advantages and dilemmas of incorporating these concepts into sarcopenia management. We present common patient decision aids available for sarcopenia management and propose future research directions. SDM can be effectively integrated into daily practice with the aid of structured techniques, such as the "seek, help, assess, reach, evaluate" approach, "making good decisions in collaboration" questions, "benefits, risks, alternatives, doing nothing" tool, or "multifocal approach to sharing in shared decision making." Such techniques fully consider patient values and preferences, thereby enhancing adherence to and satisfaction with the intervention measures. Additionally, we review the barriers to and potential solutions to SDM implementation. Further studies are required to investigate measurement and outcomes, coordination and cooperation, and digital technology, such as remote SDM. The study concludes that sarcopenia management must go beyond the single dimension of "Paternalism" choice. Integrating SDM into clinical practice offers promising opportunities to improve patient care, with patient-centered care and partnership of care approaches positively impacting treatment outcomes.
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Tomada de Decisão Compartilhada , Sarcopenia , Humanos , Idoso , Sarcopenia/terapia , Resultado do TratamentoRESUMO
Background: Salmonella Dublin is a zoonotic pathogen that is associated with invasive infections and high morbidity and mortality rates. Here we present the case of a 78-year-old man with a rare manifestation of a paravertebral abscess in the thoracolumbar spine caused by Salmonella Dublin. Case presentation: The patient had a history of spinal tuberculosis and poorly controlled diabetes. The abscess was successfully managed by drainage, and a 12-week course of moxifloxacin resulted in complete recovery. Salmonella Dublin was identified using culture-based serotyping. The patient resided in an environment where cattle farming is common; he consumed raw beef and unpasteurized milk, suggesting a potential source of infection. Discussion: Increasing the awareness of Salmonella Dublin as a potential cause of spinal abscesses is important, particularly in patients with structural spinal abnormalities. The timely initiation of appropriate antimicrobial therapy based on susceptibility testing is recommended. This case highlights the pathogenic potential of Salmonella Dublin and emphasizes the importance of effectively managing invasive Salmonella infections.
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Asparagus bean (Vigna unguiculata ssp. sesquipedialis), a subspecies of V. unguiculata, is a vital legume crop widely cultivated in Asia for its tender pods consumed as vegetables. However, the existing asparagus bean assemblies still contain numerous gaps and unanchored sequences, which presents challenges to functional genomics research. Here, we present an improved reference genome sequence of an elite asparagus bean variety, Fengchan 6, achieved through the integration of nanopore ultra-long reads, PacBio high-fidelity reads, and Hi-C technology. The improved assembly is 521.3 Mb in length and demonstrates several enhancements, including a higher N50 length (46.4 Mb), an anchor ratio of 99.8%, and the presence of only one gap. Furthermore, we successfully assembled 14 telomeres and all 11 centromeres, including four telomere-to-telomere chromosomes. Remarkably, the centromeric regions cover a total length of 38.1 Mb, providing valuable insights into the complex architecture of centromeres. Among the 30 594 predicted protein-coding genes, we identified 2356 genes that are tandemly duplicated in segmental duplication regions. These findings have implications for defence responses and may contribute to evolutionary processes. By utilizing the reference genome, we were able to effectively identify the presence of the gene VuMYB114, which regulates the accumulation of anthocyanins, thereby controlling the purple coloration of the pods. This discovery holds significant implications for understanding the underlying mechanisms of color determination and the breeding process. Overall, the highly improved reference genome serves as crucial resource and lays a solid foundation for asparagus bean genomic studies and genetic improvement efforts.
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Antocianinas , Fabaceae , Antocianinas/genética , Genoma de Planta/genética , Melhoramento Vegetal , Fabaceae/genética , GenômicaRESUMO
Objectives: This study aimed to assess the knowledge and awareness of nicotine, nicotine replacement therapy (NRT), and electronic cigarettes (e-cigarettes) among general practitioners with a special interest (GPwSIs) in respiratory medicine. Methods: A cross-sectional study was conducted from October 2021 to February 2022. Knowledge and awareness were compared among smokers and non-smokers, as well as different age and gender groups. Results: The study consisted of 102 GPwSIs from 21 cities in Sichuan Province, China. Most respondents would recommend NRT for long-term use. Only a few believed that e-cigarettes are an effective means of smoking cessation and 71.6% would not recommend e-cigarettes as a substitute for cigarettes to their patients. Additionally, the majority did not regularly provide extensive help to assist patients in quitting smoking and needed smoking cessation counseling training. Conclusion: GPwSIs in respiratory medicine in China could have a relatively low level of knowledge and awareness regarding nicotine, NRT, and e-cigarettes. The study highlights the need for smoking cessation training among GPwSIs to improve their knowledge and provide better assistance to patients who want to quit smoking.
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Canola (Brassica napus) is an important oil crop worldwide. The seed-setting rate (SS) is a critical factor in determining its yield, and the development of pistils affects pollination and seed sets. However, research on seed-setting defects has been limited owing to difficulties in the identification of phenotypes, mutations, and complex genetic mechanisms. In this study, we found a stigma defect (sd) mutant in B. napus, which had no nectary. The SS of sd mutants in the field was approximately 93.4% lower than that of the wild type. Scanning and transmission electron microscopy imaging of sd mutants showed a low density of stigma papillary cells and stigma papillary cell vacuoles that disappeared 16 h after flowering. Genetic analysis of segregated populations showed that two recessive nuclear genes are responsible for the mutant phenotype of sd. Based on re-sequencing and map-based cloning, we reduced the candidate sites on ChrA07 (BnaSSA07) and ChrC06 (BnaSSC06) to 30 and 67 kb, including six and eight predicted genes, respectively. Gene analyses showed that a pair of CRABS CLAW (CRC) homeologous genes at BnaSSA07 and BnaSSC06 were associated with the development of carpel and nectary. BnaSSA07.CRC and BnaSSC06.CRC candidate genes were found to be expressed in flower organs only, with significant differences in their expression in the pistils of the near-isogenic lines. DNA sequencing showed transposon insertions in the upstream region and intron of the candidate gene BnaSSA07.crc. We also found that BnaSSC06.crc exists widely in the natural population and we give possible reasons for its widespread existence.
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Proteínas de Arabidopsis , Arabidopsis , Brassica napus , Arabidopsis/genética , Proteínas de Arabidopsis/metabolismo , Brassica napus/genética , Brassica napus/metabolismo , Domesticação , Flores , Sementes/genética , Sementes/metabolismo , Fatores de Transcrição/metabolismoRESUMO
Introduction: Modified electroconvulsive therapy (MECT) is a viable therapeutic option for patients with mood disorders and schizophrenia. We found that there is a relationship between MECT and leukocytosis. To the best of our knowledge, this is the first case of this problem. There are no relevant guidelines recommending the risk of leukocytosis caused by MECT, nor the method to reduce the risk. We hope to share this case to provide a reference for the prevention and treatment of similar patients with leukocytosis during or after MECT and remind psychiatrists to pay attention to this risk of leukocytosis before making the decision of MECT while knowing how to deal with it. Case presentation: We describe a case of a 24-year-old woman diagnosed with Paranoid personality disorder (PPD) whose symptoms began at 19 years old. Her main clinical manifestations are feeling targeted, cheated, tracked, misunderstood, and repeating action. Since antipsychotic treatment was ineffective, we considered MECT. After MECT, the patient's body temperature increased, and leukocytosis was found. After excluding infection and other possibilities, we added 1,000 ml physiological saline to the patient through the vein. The white blood cell (WBC) count returned to normal in a short time. Conclusion: Before MECT, it is necessary to screen blood cytology. During and after MECT, we should be alert to leukocytosis that may be related to MECT and deal with it correctly in time.
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The prevalence of non-alcoholic fatty liver disease (NAFLD) in patients with type 2 diabetes mellitus (T2DM) is increasing and there is an urgent need for new treatment strategy to prevent progression of hepatic steatosis and fibrosis. We have performed a systematic review and meta-analysis of randomized controlled trials (RCTs) to evaluate the efficacy and safety of glucagon-like peptide-1 receptor agonists (GLP-1RAs) in the treatment of hepatic steatosis and fibrosis in patients with T2DM and NAFLD. The PubMed, Web of Science, Scopus, Embase and Cochrane Central Register of Controlled Trials databases were searched for articles that met the eligibility criteria to explore the efficacy and safety of GLP-1RAs in patients with T2DM and NAFLD. We assessed pooled data using a random/fixed-effects model according to the I2 and p-values. Eight trials that included a total of 468 participants were eligible for inclusion in the review. For primary outcomes, administration of GLP-1RAs significantly decreased the content of intrahepatic adipose (IHA)[p=0.007, weight mean difference (WMD) -3.01, 95% confidence interval (CI) -4.75, -1.28], subcutaneous adipose tissue (SAT) (p<0.00001,WMD -28.53,95%CI -68.09,-26.31), and visceral adipose tissue (VAT) (p<0.0001,WMD -29.05,95%CI -42.90,-15.9). For secondary outcomes, GLP-1RAs produced a significant decrease in levels of alanine aminotransferase(ALT)(p=0.02, WMD -3.82, 95%CI -7.04, -0.60), aspartate aminotransferase (AST) (p=0.03, WMD -2.4, 95%CI -4.55,-0.25, I2 = 49%), body weight (p<0.00001,WMD -3.48,95%CI -4.58,-2.37), body mass index (p<0.00001,WMD -1.07,95%CI -1.35,-0.78), circumference waist (p=0.0002,WMD -3.87, 95%CI -5.88, -1.86) fasting blood glucose (p=0.02, WMD -0.35, 95%CI -0.06, -0.05), HbA1c (p<0.00001,WMD -0.39,95%CI -0.56,-0.22), HoMA-IR(p=0.005, WMD-1.51, 95%CI-0.87,-0.16), total cholesterol (p=0.0008, WMD -0.31, 95%CI -0.48, 0.13) and triglycerides (p=0.0008, WMD -0.27, 95%CI -0.43,-0.11) in comparison with the control regimens. The main adverse events associated with GLP-1RAs included mild-to-moderate gastrointestinal discomfort and nonsense hypoglycemia that resolved within a few weeks. GLP-1RAs were an effective treatment that improved intrahepatic visceral and subcutaneous adipose tissue, inflammatory markers, the anthropometric profiles and some metabolic indices in patients with T2DM and NAFLD, GLP-1RAs could be considered for use in these if there are no contraindications. Further studies are needed to understand the direct and indirect effects of GLP-1RAs on NAFLD and the potential mechanism via which they prevent its progression. Systematic Review Registration: PROSPERO, identifier CRD42021265806.
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Diabetes Mellitus Tipo 2/tratamento farmacológico , Receptor do Peptídeo Semelhante ao Glucagon 1/agonistas , Hipoglicemiantes/uso terapêutico , Hepatopatia Gordurosa não Alcoólica/complicações , Diabetes Mellitus Tipo 2/complicações , Humanos , Hipoglicemiantes/efeitos adversos , Resultado do TratamentoRESUMO
Photosystem II (PSII) is an important component of the chloroplast. The PSII repair cycle is crucial for the relief of photoinhibition and may be advantageous when improving stress resistance and photosynthetic efficiency. Lethal genes are widely used in the efficiency detection and method improvement of gene editing. In the present study, we identified the naturally occurring lethal mutant 7-521Y with etiolated cotyledons in Brassica napus, controlled by double-recessive genes (named cyd1 and cyd2). By combining whole-genome resequencing and map-based cloning, CYD1 was fine-mapped to a 29 kb genomic region using 15,167 etiolated individuals. Through cosegregation analysis and functional verification of the transgene, BnaC06.FtsH1 was determined to be the target gene; it encodes an filamentation temperature sensitive protein H 1 (FtsH1) hydrolase that degrades damaged PSII D1 in Arabidopsis thaliana. The expression of BnaC06.FtsH1 was high in the cotyledons, leaves, and flowers of B. napus, and localized in the chloroplasts. In addition, the expression of EngA (upstream regulation gene of FtsH) increased and D1 decreased in 7-521Y. Double mutants of FtsH1 and FtsH5 were lethal in A. thaliana. Through phylogenetic analysis, the loss of FtsH5 was identified in Brassica, and the remaining FtsH1 was required for PSII repair cycle. CYD2 may be a homologous gene of FtsH1 on chromosome A07 of B. napus. Our study provides new insights into lethal mutants, the findings may help improve the efficiency of the PSII repair cycle and biomass accumulation in oilseed rape.
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Brassica napus/genética , Genes Letais , Complexo de Proteína do Fotossistema II/metabolismo , Mapeamento Físico do Cromossomo , Proteínas de Plantas/genética , Brassica napus/ultraestrutura , Cromossomos de Plantas/genética , Regulação da Expressão Gênica de Plantas , Genoma de Planta , Anotação de Sequência Molecular , Mutação/genética , Fenótipo , Filogenia , Proteínas de Plantas/metabolismo , Frações Subcelulares/metabolismo , Transformação GenéticaRESUMO
Creating a homologous restorer line for Ogura cytoplasmic male sterility (Ogu-CMS) in Brassica napus is meaningful for the wider application of Ogu-CMS system in rapeseed production. Previously, an independent development of a new Ogu-CMS restorer line (CLR650) was reported locally from crossing between Raphanobrassica (AACCRR, 2n = 56) and B. napus and a new version of Ogu CMS lines CLR6430 derived from CLR650 was characterized in this study. The results showed that the fertility restoration gene in CLR6430 presented a distorted segregation in different segregating populations. However, the majority of somatic cells from roots had a regular chromosome number (2n = 38) and no radish signal covered a whole chromosome was detected using GISH. Thirty-two specific markers derived from the introgressed radish fragments were developed based on the re-sequencing results. Unique radish insertions and differences between CLR6430 and R2000 were also identified through both radish-derived markers and PCR product sequences. Further investigations on the genetic behaviors, interactions between the fertility restoration and other traits and specific molecular markers to the introgression in CLR6430 were also conducted in this study. These results should provide the evidence of nucleotide differences between CLR6430 and R2000, and the specific markers will be helpful for breeding new Ogura restore lines in future.
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Brassica napus/genética , Marcadores Genéticos/genética , Infertilidade das Plantas/genética , Brassica rapa/genética , Mapeamento Cromossômico , Cromossomos de Plantas , DNA de Plantas/química , DNA de Plantas/isolamento & purificação , DNA de Plantas/metabolismo , Repetições de Microssatélites/genética , Raphanus/genéticaRESUMO
KEY MESSAGE: Using microarray analysis combined with map-based cloning, a major locus positively regulating SL and SW was mapped to a 98.47 kb interval on A09 in rapeseed. In rapeseed, seed yield is closely associated with silique-related traits such as silique length (SL) and seed weight (SW). Previously identified quantitative trait loci (QTLs) revealed that SL and SW are complex traits and many QTLs overlap. However, the genetic characterization of the association between SL and SW is poorly understood. In the present study, a BC3F3 near isogenic line developed from a short silique plant and the long silique cultivar 'ZS11' was analyzed to identify the locus related to SL. Map-based cloning indicated that a major locus acting as a single Mendelian factor was mapped to a 98.47 kb region on chromosome A09. BLAST analysis and DNA sequencing showed SNP variations and a fragment replacement in the upstream region of the candidate gene BnaA09g55530D may alter gene expression and influence SL. The results showed that this SL locus may also positively affect SW as well as in the 186 rapeseed accessions identified by the associated markers. Therefore, selecting plants with appropriate SL and developing functional markers for the associated gene could play important roles in the molecular breeding of high-yield rapeseed varieties.
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Brassica napus/genética , Mapeamento Cromossômico , Genes de Plantas , Sementes/fisiologia , Brassica napus/fisiologia , Fenótipo , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas , Sementes/genéticaRESUMO
BACKGROUND: Alloplasmic lines, in which the nuclear genome is combined with wild cytoplasm, are often characterized by cytoplasmic male sterility (CMS), regardless of whether it was derived from sexual or somatic hybridization with wild relatives. In this study, we sequenced and analyzed the mitochondrial genomes of five such alloplasmic lines in Brassica juncea. RESULTS: The assembled and annotated mitochondrial genomes of the five alloplasmic lines were found to have virtually identical gene contents. They preserved most of the ancestral mitochondrial segments, and the same candidate male sterility gene (orf108) was found harbored in mitotype-specific sequences. We also detected promiscuous sequences of chloroplast origin that were conserved among plants of the Brassicaceae, and found the RNA editing profiles to vary across the five mitochondrial genomes. CONCLUSIONS: On the basis of our characterization of the genetic nature of five alloplasmic mitochondrial genomes, we speculated that the putative candidate male sterility gene orf108 may not be responsible for the CMS observed in Brassica oxyrrhina and Diplotaxis catholica. Furthermore, we propose the potential coincidence of CMS in alloplasmic lines. Our findings lay the foundation for further elucidation of male sterility gene.
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Citoplasma/genética , Genoma Mitocondrial , Mitocôndrias/genética , Mostardeira/genética , Infertilidade das Plantas , Proteínas de Plantas/genética , Regulação da Expressão Gênica de Plantas , Mostardeira/fisiologia , Fases de Leitura Aberta , FilogeniaRESUMO
DNA methylation is an essential epigenetic modification that dynamically regulates gene expression during plant development. However, few studies have determined the DNA methylation profiles of male-sterile rapeseed. Here, we conducted a global comparison of DNA methylation patterns between the rapeseed genic male sterile line 7365A and its near-isogenic fertile line 7365B by whole-genome bisulfite sequencing (WGBS). Profiling of the genome-wide DNA methylation showed that the methylation level in floral buds was lower than that in leaves and roots. Besides, a total of 410 differentially methylated region-associated genes (DMGs) were identified in 7365A relative to 7365B. Traditional bisulfite sequencing polymerase chain reaction (PCR) was performed to validate the WGBS data. Eleven DMGs were found to be involved in anther and pollen development, which were analyzed by quantitative PCR. In particular, Bnams4 was hypo-methylated in 7365A, and its expression was up-regulated, which might affect other DMGs and thus control the male sterility. This study provided genome-wide DNA methylation profiles of floral buds and important clues for revealing the molecular mechanism of genic male sterility in rapeseed.