The flesh color of pummelo(Citrus maxima)fruits is highly diverse and largely depends on the level of carotenoids,which are beneficial to human health.It is vital to investigate the regulatory network of carotenoid bi...The flesh color of pummelo(Citrus maxima)fruits is highly diverse and largely depends on the level of carotenoids,which are beneficial to human health.It is vital to investigate the regulatory network of carotenoid biosynthesis to improve the carotenoid content in pummelo.However,the molecular mechanism underlying carotenoid accumulation in pummelo is not fully understood.In this study,we identified a novel histone methyltransferase gene,CgSDG40,involved in carotenoid regulation by analyzing the flesh transcriptome of typical white-fleshed pummelo,red-fleshed pummelo and extreme-colored F1 hybrids from a segregated pummelo population.Expression of CgSDG40 corresponded to flesh color change and was highly coexpressed with CgPSY1.Interestingly,CgSDG40 and CgPSY1 are located physically adjacent to each other on the chromosome in opposite directions,sharing a partially overlapping promoter region.Subcellular localization analysis indicated that CgSDG40 localizes to the nucleus.Overexpression of CgSDG40 significantly increased the total carotenoid content in citrus calli relative to that in wild type.In addition,expression of CgPSY1 was significantly activated in overexpression lines relative to wild type.Taken together,our findings reveal a novel histone methyltransferase regulator,CgSDG40,involved in the regulation of carotenoid biosynthesis in citrus and provide new strategies for molecular design breeding and genetic improvement of fruit color and nutritional quality.展开更多
为优选小麦粉蛋白质近红外建模校正集,在传统K/S(Kennard/Stone)方法划分的初始校正集基础上采用二进制蜻蜓算法(binary dragonfly algorithm,BDA)挑选代表性样品,建立小麦粉蛋白质含量偏最小二乘回归(partial least square regression,...为优选小麦粉蛋白质近红外建模校正集,在传统K/S(Kennard/Stone)方法划分的初始校正集基础上采用二进制蜻蜓算法(binary dragonfly algorithm,BDA)挑选代表性样品,建立小麦粉蛋白质含量偏最小二乘回归(partial least square regression,PLSR)模型,并用预测集检验评估模型的稳定性及预测性能。结果表明:BDA挑选出的最佳校正集样品数量为30个,所建模型的预测决定系数(R_(p)^(2))为0.9564,预测标准偏差(root mean square errors of prediction,RMSEP)为0.2781,与传统K/S划分的100个初始校正集的建模效果(R_(p)^(2):0.9388,RMSEP:0.3294)相比,R_(p)^(2)提高了1.87%,RMSEP降低了15.57%。10次BDA实验优选出校正集的平均数量为30.2个,且所建10个模型蛋白质含量预测效果均优于初始校正集建模。综上,BDA算法可以优选出数量少、具有代表性的校正集样品,建立的小麦粉蛋白质PLSR模型稳定性好、预测精度高,可为小麦粉品质近红外检测分析提供一种高效的校正集优选方法。展开更多
BACKGROUND Sotos syndrome is an autosomal dominant disorder,whereas attention-deficit/hyperactivity disorder(ADHD)is a neurodevelopmental condition.This report aimed to summarize the clinical and genetic features of a...BACKGROUND Sotos syndrome is an autosomal dominant disorder,whereas attention-deficit/hyperactivity disorder(ADHD)is a neurodevelopmental condition.This report aimed to summarize the clinical and genetic features of a pediatric case of Soros syndrome and ADHD in a child exhibiting precocious puberty.CASE SUMMARY The patient presented with accelerated growth and advanced skeletal maturation;however,she lacked any distinct facial characteristics related to specific genetic disorders.Genetic analyses revealed a paternally inherited heterozygous synonymous mutation[c.4605C>T(p.Arg1535Arg)].Functional analyses suggested that this mutation may disrupt splicing,and bioinformatics analyses predicted that this mutation was likely pathogenic.After an initial diagnosis of Sotos syndrome,the patient was diagnosed with ADHD during the follow-up period at the age of 8 years and 7 months.CONCLUSION The potential for comorbid ADHD in Sotos syndrome patients should be considered to avoid the risk of a missed diagnosis.展开更多
目的:对稳定干扰SET(patient SE translocation)的肝细胞株进行生物学性状鉴定,为研究SET蛋白在肝细胞中的作用奠定基础。方法:培养人肝L-02细胞、慢病毒载体介导的稳定干扰(siRNA)SET L-02肝细胞及psiRNAc L-02肝细胞(空载体转染细胞)...目的:对稳定干扰SET(patient SE translocation)的肝细胞株进行生物学性状鉴定,为研究SET蛋白在肝细胞中的作用奠定基础。方法:培养人肝L-02细胞、慢病毒载体介导的稳定干扰(siRNA)SET L-02肝细胞及psiRNAc L-02肝细胞(空载体转染细胞),于倒置显微镜下观察细胞形态,利用MTT吸光度与细胞数目间关系绘制生长曲线,采用染色体畸变试验观察染色体有无结构异常,软琼脂克隆实验检测细胞的恶性转化。结果:与正常肝细胞比较,稳定干扰SET肝细胞及psiRNAc肝细胞的生长形态无明显变化,3组细胞的生长曲线趋于一致。染色体畸变分析表明SET基因沉默的人肝L-02细胞染色体结构与数目未发生明显改变。软琼脂克隆实验表明SET基因沉默的人肝L-02细胞未发生恶性转化。结论:SET siRNA的导入未引起细胞生物学特征的改变,遗传性状保持稳定,说明所构建的SE7基因沉默的人肝L-02细胞模型是稳定的,为后续的研究提供了工具细胞。展开更多
目的旨在探讨着丝粒蛋白U(centromere protein U,CENPU)在结直肠癌患者肠组织中的表达情况,并结合生物信息学分析其表达水平对结直肠癌患者预后的影响。方法通过实时荧光定量聚合酶链反应(quantitative real time polymerase chain reac...目的旨在探讨着丝粒蛋白U(centromere protein U,CENPU)在结直肠癌患者肠组织中的表达情况,并结合生物信息学分析其表达水平对结直肠癌患者预后的影响。方法通过实时荧光定量聚合酶链反应(quantitative real time polymerase chain reaction,qRT-PCR)、蛋白质免疫印迹(Western blot,WB)法以及免疫组织化学染色(immunohistochemistry,IHC)实验验证CENPU在组织中的表达情况。结合患者临床病例资料,通过单因素和多因素Cox回归分析CENPU的表达与结直肠癌患者临床病例参数的相关性;然后通过绘制受试操作者操作特征(receiver operating characteristic,ROC)曲线和Kaplan-Meier生存曲线,探究CENPU的表达对结直肠癌患者预后的预测作用。最后,通过生物信息学分析CENPU的表达对结直肠癌疾病进展影响的可能分子机制。结果通过qRT-PCR、WB法以及IHC实验均发现,与正常组织比较,CENPU在结直肠癌患者癌组织中表达显著升高。Cox回归分析表明CENPU的表达与患者的年龄和TNM分期显著相关,是影响患者预后的危险因素。Kaplan-Meier生存曲线分析表明:CENPU高表达的结直肠癌患者的生存率显著降低。ROC曲线结果表明:基于CENPU的表达建立的模型具有较高的预测结直肠癌患者预后的能力。生物信息学分析结果表明:CENPI、CENPN、CENPD、CENPK、CENPP、CENPM、CENPQ、CENPH、NDC80以及ITGB3BP这10个基因与CENPU基因具有相互作用关系;CENPU参与DNA修复、MYC/TARGETS/V1以及PI3K/AKT/MTOR等信号通路。结论结直肠癌患者癌组织中高表达的CENPU与患者的不良预后显著相关,提示CENPU有望成为结直肠癌患者早期诊断及预测预后的潜在靶点。展开更多
SET和MYND结构域蛋白(the SET and MYND domain-containing proteins,SMYD)家族是一类蛋白质赖氨酸甲基转移酶,可以通过甲基化组蛋白及非组蛋白,调节基因表达、参与信号转导和细胞周期控制等,从而在恶性肿瘤中发挥重要作用。肝细胞癌(he...SET和MYND结构域蛋白(the SET and MYND domain-containing proteins,SMYD)家族是一类蛋白质赖氨酸甲基转移酶,可以通过甲基化组蛋白及非组蛋白,调节基因表达、参与信号转导和细胞周期控制等,从而在恶性肿瘤中发挥重要作用。肝细胞癌(hepatocellular carcinoma,HCC)发病率高、预后差,为提高患者临床预后,有必要寻找新的特异性标志物及药物治疗靶点。该文就SMYD家族在HCC发生发展中的作用及研究进展进行综述,旨在为HCC的诊治提供新思路。展开更多
目的:探讨人L-02肝细胞经三氯乙烯(TCE)染毒后SET相互作用蛋白e EF1A1、e EF1A2和DDB1 m RNA表达水平的变化。方法:取对数生长期的L-02肝细胞,暴露于不同浓度TCE(1.0、2.0、4.0、8.0 mmol/L)中,以DMSO为溶剂对照。24 h后,采用实时荧光定...目的:探讨人L-02肝细胞经三氯乙烯(TCE)染毒后SET相互作用蛋白e EF1A1、e EF1A2和DDB1 m RNA表达水平的变化。方法:取对数生长期的L-02肝细胞,暴露于不同浓度TCE(1.0、2.0、4.0、8.0 mmol/L)中,以DMSO为溶剂对照。24 h后,采用实时荧光定量PCR检测e EF1A1、e EF1A2和DDB1 m RNA表达水平。结果:与对照组相比,不同浓度的TCE均能够使L-02肝细胞e EF1A1、e EF1A2和DDB1 m RNA表达水平发生明显变化。其中,DDB1和e EF1A2 m RNA表达水平在低浓度(1.0 mmol/L)TCE暴露下显著升高,而随着TCE浓度的升高其m RNA表达水平显著降低(P<0.05或P<0.01)。e EF1A1 m RNA表达水平随着TCE浓度的增加而升高(P<0.05)。结论:TCE染毒可诱发L-02肝细胞中SET相互作用蛋白的m RNA表达水平发生改变。展开更多
基金supported by the Major Special Projects and Key R&D Projects in Yunnan Province,China(202102AE090054)the National Natural Science Foundation of China(31925034)+1 种基金the Foundation of Hubei Hongshan Laboratory granted to Dr.Qiang Xu,China(2021hszd016)the Key Project of Hubei Provincial Natural Science Foundation,China(2021CFA017)。
文摘The flesh color of pummelo(Citrus maxima)fruits is highly diverse and largely depends on the level of carotenoids,which are beneficial to human health.It is vital to investigate the regulatory network of carotenoid biosynthesis to improve the carotenoid content in pummelo.However,the molecular mechanism underlying carotenoid accumulation in pummelo is not fully understood.In this study,we identified a novel histone methyltransferase gene,CgSDG40,involved in carotenoid regulation by analyzing the flesh transcriptome of typical white-fleshed pummelo,red-fleshed pummelo and extreme-colored F1 hybrids from a segregated pummelo population.Expression of CgSDG40 corresponded to flesh color change and was highly coexpressed with CgPSY1.Interestingly,CgSDG40 and CgPSY1 are located physically adjacent to each other on the chromosome in opposite directions,sharing a partially overlapping promoter region.Subcellular localization analysis indicated that CgSDG40 localizes to the nucleus.Overexpression of CgSDG40 significantly increased the total carotenoid content in citrus calli relative to that in wild type.In addition,expression of CgPSY1 was significantly activated in overexpression lines relative to wild type.Taken together,our findings reveal a novel histone methyltransferase regulator,CgSDG40,involved in the regulation of carotenoid biosynthesis in citrus and provide new strategies for molecular design breeding and genetic improvement of fruit color and nutritional quality.
文摘为优选小麦粉蛋白质近红外建模校正集,在传统K/S(Kennard/Stone)方法划分的初始校正集基础上采用二进制蜻蜓算法(binary dragonfly algorithm,BDA)挑选代表性样品,建立小麦粉蛋白质含量偏最小二乘回归(partial least square regression,PLSR)模型,并用预测集检验评估模型的稳定性及预测性能。结果表明:BDA挑选出的最佳校正集样品数量为30个,所建模型的预测决定系数(R_(p)^(2))为0.9564,预测标准偏差(root mean square errors of prediction,RMSEP)为0.2781,与传统K/S划分的100个初始校正集的建模效果(R_(p)^(2):0.9388,RMSEP:0.3294)相比,R_(p)^(2)提高了1.87%,RMSEP降低了15.57%。10次BDA实验优选出校正集的平均数量为30.2个,且所建10个模型蛋白质含量预测效果均优于初始校正集建模。综上,BDA算法可以优选出数量少、具有代表性的校正集样品,建立的小麦粉蛋白质PLSR模型稳定性好、预测精度高,可为小麦粉品质近红外检测分析提供一种高效的校正集优选方法。
文摘BACKGROUND Sotos syndrome is an autosomal dominant disorder,whereas attention-deficit/hyperactivity disorder(ADHD)is a neurodevelopmental condition.This report aimed to summarize the clinical and genetic features of a pediatric case of Soros syndrome and ADHD in a child exhibiting precocious puberty.CASE SUMMARY The patient presented with accelerated growth and advanced skeletal maturation;however,she lacked any distinct facial characteristics related to specific genetic disorders.Genetic analyses revealed a paternally inherited heterozygous synonymous mutation[c.4605C>T(p.Arg1535Arg)].Functional analyses suggested that this mutation may disrupt splicing,and bioinformatics analyses predicted that this mutation was likely pathogenic.After an initial diagnosis of Sotos syndrome,the patient was diagnosed with ADHD during the follow-up period at the age of 8 years and 7 months.CONCLUSION The potential for comorbid ADHD in Sotos syndrome patients should be considered to avoid the risk of a missed diagnosis.
文摘目的旨在探讨着丝粒蛋白U(centromere protein U,CENPU)在结直肠癌患者肠组织中的表达情况,并结合生物信息学分析其表达水平对结直肠癌患者预后的影响。方法通过实时荧光定量聚合酶链反应(quantitative real time polymerase chain reaction,qRT-PCR)、蛋白质免疫印迹(Western blot,WB)法以及免疫组织化学染色(immunohistochemistry,IHC)实验验证CENPU在组织中的表达情况。结合患者临床病例资料,通过单因素和多因素Cox回归分析CENPU的表达与结直肠癌患者临床病例参数的相关性;然后通过绘制受试操作者操作特征(receiver operating characteristic,ROC)曲线和Kaplan-Meier生存曲线,探究CENPU的表达对结直肠癌患者预后的预测作用。最后,通过生物信息学分析CENPU的表达对结直肠癌疾病进展影响的可能分子机制。结果通过qRT-PCR、WB法以及IHC实验均发现,与正常组织比较,CENPU在结直肠癌患者癌组织中表达显著升高。Cox回归分析表明CENPU的表达与患者的年龄和TNM分期显著相关,是影响患者预后的危险因素。Kaplan-Meier生存曲线分析表明:CENPU高表达的结直肠癌患者的生存率显著降低。ROC曲线结果表明:基于CENPU的表达建立的模型具有较高的预测结直肠癌患者预后的能力。生物信息学分析结果表明:CENPI、CENPN、CENPD、CENPK、CENPP、CENPM、CENPQ、CENPH、NDC80以及ITGB3BP这10个基因与CENPU基因具有相互作用关系;CENPU参与DNA修复、MYC/TARGETS/V1以及PI3K/AKT/MTOR等信号通路。结论结直肠癌患者癌组织中高表达的CENPU与患者的不良预后显著相关,提示CENPU有望成为结直肠癌患者早期诊断及预测预后的潜在靶点。
文摘SET和MYND结构域蛋白(the SET and MYND domain-containing proteins,SMYD)家族是一类蛋白质赖氨酸甲基转移酶,可以通过甲基化组蛋白及非组蛋白,调节基因表达、参与信号转导和细胞周期控制等,从而在恶性肿瘤中发挥重要作用。肝细胞癌(hepatocellular carcinoma,HCC)发病率高、预后差,为提高患者临床预后,有必要寻找新的特异性标志物及药物治疗靶点。该文就SMYD家族在HCC发生发展中的作用及研究进展进行综述,旨在为HCC的诊治提供新思路。
文摘目的:探讨人L-02肝细胞经三氯乙烯(TCE)染毒后SET相互作用蛋白e EF1A1、e EF1A2和DDB1 m RNA表达水平的变化。方法:取对数生长期的L-02肝细胞,暴露于不同浓度TCE(1.0、2.0、4.0、8.0 mmol/L)中,以DMSO为溶剂对照。24 h后,采用实时荧光定量PCR检测e EF1A1、e EF1A2和DDB1 m RNA表达水平。结果:与对照组相比,不同浓度的TCE均能够使L-02肝细胞e EF1A1、e EF1A2和DDB1 m RNA表达水平发生明显变化。其中,DDB1和e EF1A2 m RNA表达水平在低浓度(1.0 mmol/L)TCE暴露下显著升高,而随着TCE浓度的升高其m RNA表达水平显著降低(P<0.05或P<0.01)。e EF1A1 m RNA表达水平随着TCE浓度的增加而升高(P<0.05)。结论:TCE染毒可诱发L-02肝细胞中SET相互作用蛋白的m RNA表达水平发生改变。
