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
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
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:探讨组蛋白赖氨酸甲基转移酶SET和MYND结构域蛋白2(SET and MYND domain-containing protein 2,SMYD2)在宫颈癌细胞糖代谢中的作用,进一步研究其是否与宫颈癌增殖有关。方法:通过基因表达谱交互分析(gene expression profiling int...目的:探讨组蛋白赖氨酸甲基转移酶SET和MYND结构域蛋白2(SET and MYND domain-containing protein 2,SMYD2)在宫颈癌细胞糖代谢中的作用,进一步研究其是否与宫颈癌增殖有关。方法:通过基因表达谱交互分析(gene expression profiling interactive analysis,GEPIA)数据库分析SMYD家族成员在宫颈癌中的表达和预后价值,通过log-rank检验进行生存差异比较。通过SMYD2的shRNA敲低或过表达技术来研究SMYD2在宫颈癌中的糖代谢作用。结果:宫颈癌组织中SMYD2的表达与患者年龄、性别、肿瘤组织分化程度无关,SMYD2的过表达预示总体生存期较差与临床分期相关(F=4.520,P=0.004)。生物信息分析揭示了SMYD2在调控宫颈癌中Warburg效应中发挥调节作用。通过功能缺失实验,证明SMYD2的敲低抑制了宫颈癌细胞的有氧糖酵解,表现为葡萄糖摄取减少,乳酸生成降低和细胞外酸化减弱,而SMYD2过表达则促进子宫颈癌细胞的糖酵解代谢。此外,SMYD2是宫颈癌细胞生长所必需的,并且这种致癌作用主要依赖糖酵解。结论:SMYD2在宫颈癌细胞中过表达并在肿瘤代谢中发挥重要作用,能够通过调节有氧酵解促进宫颈癌细胞增殖。展开更多
蛋白质赖氨酸甲基转移酶(protein lysine methyltransferase,PKMT)能催化组蛋白尾部和非组蛋白靶标上的赖氨酸残基甲基化。这类重要的翻译后修饰,可影响染色质的结构和紧密程度,进而影响基因表达。越来越多证据表明,PKMT的遗传改变会影...蛋白质赖氨酸甲基转移酶(protein lysine methyltransferase,PKMT)能催化组蛋白尾部和非组蛋白靶标上的赖氨酸残基甲基化。这类重要的翻译后修饰,可影响染色质的结构和紧密程度,进而影响基因表达。越来越多证据表明,PKMT的遗传改变会影响PKMT在组织中的正常表达从而发挥致癌或抑癌功能。在多种实体瘤中发现PKMT的表达与肿瘤病人的预后有关。本综述总结Zeste增强子同源物2(enhancer of zeste homologue 2,EZH2)、组蛋白-赖氨酸N-甲基转移酶2(histone-lysine N-methyltransferase 2,KMT2)家族和含有SET结构域及MYND结构域蛋白(SET and MYND domain-containing protein,SMYD)家族三类主要PKMT的功能及其在甲状腺癌中的作用。展开更多
目的:探讨肝内胆管癌细胞HCCC-9810中SET和MYND结构域含有蛋白3(SET and MYND domain-containing protein 3,SMYD3)过表达对miR-124表达及细胞增殖能力的影响。方法:瞬时转染SMYD3真核表达质粒后,Western blotting检测细胞中SMYD3蛋白...目的:探讨肝内胆管癌细胞HCCC-9810中SET和MYND结构域含有蛋白3(SET and MYND domain-containing protein 3,SMYD3)过表达对miR-124表达及细胞增殖能力的影响。方法:瞬时转染SMYD3真核表达质粒后,Western blotting检测细胞中SMYD3蛋白水平的变化;qRT-PCR检测细胞中SMYD3 mRNA和miR-124表达;甲基化特异性PCR检测miR-124-1、miR-124-2和miR-124-3基因启动子甲基化水平;CCK-8和平板克隆形成实验检测细胞增殖能力。结果:以空白组为对照,肝内胆管癌细胞HCCC-9810在转染pEGFP-SMYD3质粒后,SMYD3蛋白及mRNA表达均显著上升(P<0.05),miR-124-1、miR-124-2和miR-124-3基因启动子甲基化显著增加(P<0.05),miR-124表达明显下降(P<0.05),细胞增殖能力显著提高(P<0.05)。结论:过表达SMYD3可引起miR-124基因启动子甲基化增加,导致胆管癌细胞中miR-124的表达下降,同时过表达SMYD3可增强细胞增殖能力。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:探讨组蛋白赖氨酸甲基转移酶SET和MYND结构域蛋白2(SET and MYND domain-containing protein 2,SMYD2)在宫颈癌细胞糖代谢中的作用,进一步研究其是否与宫颈癌增殖有关。方法:通过基因表达谱交互分析(gene expression profiling interactive analysis,GEPIA)数据库分析SMYD家族成员在宫颈癌中的表达和预后价值,通过log-rank检验进行生存差异比较。通过SMYD2的shRNA敲低或过表达技术来研究SMYD2在宫颈癌中的糖代谢作用。结果:宫颈癌组织中SMYD2的表达与患者年龄、性别、肿瘤组织分化程度无关,SMYD2的过表达预示总体生存期较差与临床分期相关(F=4.520,P=0.004)。生物信息分析揭示了SMYD2在调控宫颈癌中Warburg效应中发挥调节作用。通过功能缺失实验,证明SMYD2的敲低抑制了宫颈癌细胞的有氧糖酵解,表现为葡萄糖摄取减少,乳酸生成降低和细胞外酸化减弱,而SMYD2过表达则促进子宫颈癌细胞的糖酵解代谢。此外,SMYD2是宫颈癌细胞生长所必需的,并且这种致癌作用主要依赖糖酵解。结论:SMYD2在宫颈癌细胞中过表达并在肿瘤代谢中发挥重要作用,能够通过调节有氧酵解促进宫颈癌细胞增殖。
文摘蛋白质赖氨酸甲基转移酶(protein lysine methyltransferase,PKMT)能催化组蛋白尾部和非组蛋白靶标上的赖氨酸残基甲基化。这类重要的翻译后修饰,可影响染色质的结构和紧密程度,进而影响基因表达。越来越多证据表明,PKMT的遗传改变会影响PKMT在组织中的正常表达从而发挥致癌或抑癌功能。在多种实体瘤中发现PKMT的表达与肿瘤病人的预后有关。本综述总结Zeste增强子同源物2(enhancer of zeste homologue 2,EZH2)、组蛋白-赖氨酸N-甲基转移酶2(histone-lysine N-methyltransferase 2,KMT2)家族和含有SET结构域及MYND结构域蛋白(SET and MYND domain-containing protein,SMYD)家族三类主要PKMT的功能及其在甲状腺癌中的作用。
文摘目的:探讨肝内胆管癌细胞HCCC-9810中SET和MYND结构域含有蛋白3(SET and MYND domain-containing protein 3,SMYD3)过表达对miR-124表达及细胞增殖能力的影响。方法:瞬时转染SMYD3真核表达质粒后,Western blotting检测细胞中SMYD3蛋白水平的变化;qRT-PCR检测细胞中SMYD3 mRNA和miR-124表达;甲基化特异性PCR检测miR-124-1、miR-124-2和miR-124-3基因启动子甲基化水平;CCK-8和平板克隆形成实验检测细胞增殖能力。结果:以空白组为对照,肝内胆管癌细胞HCCC-9810在转染pEGFP-SMYD3质粒后,SMYD3蛋白及mRNA表达均显著上升(P<0.05),miR-124-1、miR-124-2和miR-124-3基因启动子甲基化显著增加(P<0.05),miR-124表达明显下降(P<0.05),细胞增殖能力显著提高(P<0.05)。结论:过表达SMYD3可引起miR-124基因启动子甲基化增加,导致胆管癌细胞中miR-124的表达下降,同时过表达SMYD3可增强细胞增殖能力。
