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Conservation-based prediction of the transcription regulatory region of the SCN1A gene

Progress in Natural Science:Materials International 2009年第12期19卷 1675-1681页

作者： Yue-Sheng Long,Yi-Wu Shi,Wei-Ping Liao~* key laboratory of neurogenetics and channelopathies of guangdong province and the ministry of education of china,guangzhou 510260,china Institute of Neuroscience and The Second Affiliated Hospital of guangzhou Medical College,guangzhou 510260,china [a]key laboratory of neurogenetics and channelopathies of guangdong province and the ministry of education of china Guangzhou 510260 China [b]Institute of Neuroscience and The Second Affiliated Hospital of guangzhou Medical College Guangzhou 510260 China

A challenge in identifying the transcription regulatory region is that the locations of eukaryotic transcriptional elements are often diverse among different ***1A,a disease-related sodium channel gene,has a complex 5’-untranslated region and diverse mRNA transcripts,which might be driven by different *** cross-species sequence comparison and bioinformatics analysis,human 5’- untranslated exons were found to be conserved within the region of 200 kb upstream of the 5’ flanking regions of SCN1A in higher mammals, but not in lower mammals and *** core promoter elements(INR,DPE,and TATA) were found in the regions flanking different 5’-untranslated exons,suggesting that these sequences(from -45 to +35) might be targeted as core *** nucleotide identity rate of these core promoter sequences are different,and the conservation level of the upstream region of each core promoter varies distinctly,implicating different regulatory mechanisms of the four promoters which exist in the nervous system.

关键词： 5’-UTR Gene expression SCN1A Promoter

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Genetics of neuronal sodium channels and epileptogenesis

Genetics of neuronal sodium channels and epileptogenesis

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中国神经科学学会第九届全国学术会议暨第五次会员代表大会

作者： Wei-Ping LIAO Institute of Neurosciences And The 2nd Affiliated Hospital of guangzhou Medical College key laboratory of neurogenetics and channelopathies of guangdong province and the ministry of education of china,guangzhou 510260,china

Recent studies have demonstrated that more than 80 genes are linked to monogenetic *** of these genes are related to ion ***1A remains to be the most relevant epilepsy gene so *** of the important features of the phenotypes of SCN1A mutations is the quantity-dependence,shown both experimentally in KO mouse and clinically in mosaic *** is thus suspected that the expression level of SCN1A may play a role the manifestation of *** promoter region and some non-coding exons of SCN1A have been identified *** is therefore possible to search genetic abnormalities in such regions in patients of epilepsy with febrile seizure plus(EFS+) but without mutations in coding exons.A variety of phenotypes and types of functional defect (funotypes) have been found in Na1.1 *** studies failed to correlate the funotypes with the phenotypes. Studies on the genotype-funotype-phenotype relationship will help us to understand the biological basis,and further in management,of *** will also be helpful in studying the normal physical functioning of the sodium channels.

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Cloning and characterization of the transcription regulatory region of human voltage-gated sodium channel SCN3A Gene

Cloning and characterization of the transcription regulatory...

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中国神经科学学会第四次会员代表大会暨第八届全国学术会议

作者： Yue-Sheng LONG,Jia-Ming QIN,Xun-Sha SUN,Tao ZENG,Qi-Hua ZHAO,Wei-Ping LIAO~* Institute of Neuroscience and the Second Affiliated Hospital of guangzhou Medical College key laboratory of neurogenetics and channelopathies of guangdong province and the ministry of education of china,guangzhou 510260,china

＜正＞Voltage-gated sodium channels are responsible for the electrical excitability of the *** sodium channel genes are expressed broadly throughout the central nervous system（CNS）:SCN1 A,SCN2A,and *** in SCN1A and SCN2A are associated with several neurology disorders:epilepsy,familial hemiplegic migraine,and familial autism,and one mutation in SCN3A had been reported in a patient with cryptogenic pediatric partial *** in SCN3A transcript was found in animal seizure models,epileptic patients and peripheral nerve injury patients, which is believed to play a pivotal role in these *** date,the transcriptional mechanism of SCN3A is poorly *** identify the transcription start sites（TSS） for SCN3A,5’-rapid amplification of cDNA ends（5’-RACE） was carried out on human brain total RNA（Clontech） and the RACE products were sequenced by cloning into pGEM-T *** blast analysis of the 5’-RACE products with human genomic sequence was performed using BLAST software from NCBI *** characterize the functional promoter region and transcriptional regulatory elements,a 1.1- kb genomic fragment,5’deletion fragments and element-deletion fragments were cloned into the pGL4.10-basic expression vector upstream of the firefly luciferase cDNA and the recombinant constructs were transformed into cultured neuroblast cells and HEK-293 *** promoter activities were assessed by luciferase *** untranslated exon（228 bp, 197 bp and 50 bp respectively） were dispersed in 5’flanking region of human SCN3A and the TSS was located at 27.5 kb upstream of the first coding exon.A potential Initiator（INR）,an important element for general eukaryotic core promoter, was found at TSS.A mimic-TATA and a downstream regulatory element（DRE） were found at the -25 bp site and the +23 bp site,*** experiments demonstrated that the 1.1-kb genomic fragment was active in neuronal cell（SHSY5Y） and was inactive in non-

关键词： promoter transcription regulatory element sodium channel SCN3A

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人及小鼠钠通道SCN3A基因的启动子及其上游调控区的分析

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生物化学与生物物理进展 2009年第3期36卷 339-345页

作者：龙跃生赵绮华曾涛曾杨孙卫文廖卫平广州医学院第二附属医院神经科学研究所神经遗传与离子通道病省部共建教育部重点实验室广州510260

为了比较研究人与小鼠SCN3A基因的启动子及其上游调控区的特征,采用5′-FullRACE方法对人及小鼠SCN3A基因的转录起始点进行了准确定位,通过序列测定及对比分析证明:确定人和小鼠SCN3A基因的转录起始点均为"A",人SCN3A基因转录起始点位... 详细信息

为了比较研究人与小鼠SCN3A基因的启动子及其上游调控区的特征,采用5′-FullRACE方法对人及小鼠SCN3A基因的转录起始点进行了准确定位,通过序列测定及对比分析证明:确定人和小鼠SCN3A基因的转录起始点均为"A",人SCN3A基因转录起始点位于翻译起始点上游约27kb处,而小鼠位于翻译起始点上游约31kb处.人SCN3A基因5′非翻译区存在两个5′非翻译外显子,而小鼠只有一个5′非翻译外显子.人和小鼠SCN3A基因核心启动子区(-80～+70)的同源率高达96.0%,存在相同的启动子核心元件,BRE/和TATA;在-400至+200区段内预测到人存在而小鼠不存在的转录因子有PHR1、GATA-1、FOXN2、NF-1及AP-4,小鼠存在而人不存在的转录因子Sp、Sp3及GBF.人和小鼠SCN3A启动子区特征的异同将为进一步研究该基因在人和小鼠的表达调控机制提供重要线索.

关键词：转录起始点电压门控型钠通道 SCN3A 启动子

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Identification of a third promoter in human voltage-gated sodium channel SCNIA gene and repression of the promoter activity by a transcriptional repressor calsenilin/KChIP3/DREAM

Identification of a third promoter in human voltage-gated so...

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中国神经科学学会第九届全国学术会议暨第五次会员代表大会

作者： Yue-Sheng LONG~*,Guang-Fei DENG,Jia-Ming QIN,Qi-Hua ZHAO,Yong-Hong YI,Wei-Ping LIAO key laboratory of neurogenetics and channelopathies of guangdong province and the ministry of education of china,Institute of Neuroscience and the Second Affiliated Hospital of guangzhou Medical University,guangzhou 510260,china

Objective Voltage-gated sodium channel a subunit type I(Na1.1) is mainly expressed in the central nervous *** expression of SCN1A(encoding Na1.1) is associated with *** SCN1A promoters have been identified in human *** present study is to identify a third promoter of SCN1A and then to explore the functions of potential transcriptional elements in this *** The minimal functional promoter and potential transcriptional elements were identified by 5’ truncating or 3’ extending *** promoter activity was measured using the Dual-Luciferase Reporter Assay System(Promega).Transcription factor and DNA flagment binding assay in vitro was performed using Electrophoretic mobility shift assay(EMSA).Results(1) The third promoter fragment(P1c,nt -1023 to +52) showed a high activity in NGF-induced PC12 cells,but very low in SHSY5Y cells and HEK-293 cells.(2) The minimal functional promoter located within the region between nt -73 and nt +52.(3) The region nt +53 to nt +90 decreased the luciferase activity by～75%that of the minimal functional promoter. (4) EMSA assay using a transcriptional repressor DREAM and the DNA fragment ranging from nt +53 to nt +90 showed that the DNA fragment was retarded after overexpression of DREAM in HEK293 cells.(5) Further truncating analysis demonstrated that the region between nt +53 and nt +62 was the DREAM binding site and was responsible for repressing the promoter *** The Ca binding factor DREAM represses the third SCN1A promoter by binding the downstream repression element(DRE),which implicates a potential role of Ca in the regulation of SCN1A expression in normal and diseased human tissues.

关键词： voltage-gated sodium channel promoter transcriptional regulation SCNIA epilepsy

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Familial epilepsy with febrile seizures plus caused by SCNIA mutations and the role of mosaicism and mutation type in inheritance

Familial epilepsy with febrile seizures plus caused by SCNIA...

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中国神经科学学会第四次会员代表大会暨第八届全国学术会议

作者： Yi-Wu SHI Mei-Juan YU Wei-Yi DENG Xiao-Rong LIU Mei-Mei GAO Li CHEN Yue-Sheng LONG Yong-Hong YI Bing-Mei LI Tao SU Wei-Ping LIAO~* Institute of Neuroscience and the Second Affiliated Hospital of guangzhou Medical College key laboratory of neurogenetics and channelopathies of guangdong province and the ministry of education of china guangzhou 510260 china

＜正＞Mutations in SCNIA,SCN2A,SCNIB,and GABRG2 were found in familial generalized epilepsy with febrile seizures plus（GEFS+）.The role of each gene in epilepsies with febrile seizures plus（EFS+）,which include GEFS+ and others like severe myoclonic epilepsy in infancy（SMEI）,is *** mutations of SCNIA have been reported in SMEI,and suspected to cause other types of familial EFS+.Here we screened mutations in the 4 genes in familial EFS+ by denaturing HPLC and *** level was quantified by *** SCNIA mutations were identified in the 23 families screened（21.7%）,including 2 mosaic *** mosaic earner has a～25.0%c.5768A＞G/p. Q1923R mutation,showed febrile seizures;another one has a～12.5%c.4847T＞C/p.I1616T,being *** heterozygous children showed partial epilepsy with antecedent febrile *** accounts for 50%（6/12） of the origin of inherited truncating and splice site mutations in previous reports,all related to *** of published data showed that inherited SCNl A mutations were found in 3.1%（6/191） of truncating mutations,10.7%（6/56） of splice site type,and 17.7%（42/237） of missense type（%2 test,P＜0.01）,suggesting mutation type may affect *** study, from a general epilepsy population in one center,suggests SCNl A mutation is an important cause of familial EFS+. Truncating or splice site mutations of SCN 1A could rarely be inherited,except *** novel findings of mosaic SCNl A missense mutantions in milder familial EFS+ emphasized the importace of mosaicism in the origin of EFS+,which is significant in genetic counselling.

关键词： epilepsy with febrile seizures plus+ SCN1A mosaicism inheritance

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