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Mutational Spectrum of MYO15A in Nonsyndromic Hearing Loss Subjects from Zhejiang Province

Mutational Spectrum of MYO15A in Nonsyndromic Hearing Loss S...

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中国遗传学会第九次全国会员代表大会暨学术研讨会

作者： CHEN Dan-Ni CHEN Chao ZHENG Jing GONG Sha-Sha ZHU Xu-Fen Guan Min-xin Department of Genetics College of Life SciencesZhejiang University Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of medical Genetics School of Life SciencesWenzhou Medical University

Mutations in MYO15A(DFNB3) has been reported to be associated with nonsyndromic autosomal recessive hearing *** Myosinl5a protein is shown to be integral for actin organization in the hair cells of the *** regulates the elongation of stereocilia and the staircase formation of hair bundle,which are pivotal for normal auditory *** the present study,we used the exon capturing technology to sequence the MYO15A exons of 217 patients from Taizhou,Wenzhou and Ningbo Cities in Zhejiang *** analysis of MYO15A gene in these patients identified 73 variants,including 23 synonymous variants,41 missense mutations, 1 nonsense mutation,6 insertion/deletion mutations and 2 splicing site ***, those variants have been evaluated by phylogenetic analysis,structure-function relation and allelic frequency of these variants in the *** these,15 variants were considered to be putative deafness-associated mutations and they were present in forms of compound heterozygosity or homozygosity in the *** mutational spectrum of MYO15A was first drawn in subjects with nonsyndromic hearing loss in Zhejiang Province and may provide valuable clue for further study of molecular pathogenic mechanisms of MYO15A associated with hereditary hearing loss.

关键词： MYO15A nonsyndromic hearing loss mutational spectrum Zhejiang

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FHY3 and FAR1 Transcription Factors Integrate Light and Abscisic Acid Signaling in Arabidopsis

FHY3 and FAR1 Transcription Factors Integrate Light and Absc...

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中国遗传学会第九次全国会员代表大会暨学术研讨会

作者： Weijiang Tang Qiang Ji Yongping Huang Zhimin Jiang Manzhu Bao Haiyang Wang Rongcheng Lin Key Laboratory of Photobiology Institute of BolanyChinese Academy of Sciences University of the Chinese Academy of Sciences College of Horticulture and Forestry Sciences Huazhong Agricultural University College of Life Science Capital Normal University

Light and phytohormone abscisic acid(ABA) regulate overlapping processes in plants, such as seed germination and seedling ***,the molecular mechanism underlying the interaction between light and ABA signaling is largely ***,we show that FAR-RED ELONGATED HYPOCOTYL3(FHY3) and FAR-RED IMPAIRED RESPONSE1 (FAR1),two key positive transcription factors in the phytochrome A pathway,directly bind to the promoter of AB15 and activate its *** of FHY3 and/or FARI reduces sensitivity to ABA-mediated inhibition of seed germination,seedling development,and primary root growth Seed germination of the fhy3 mutant is also less sensitive to salt and osmotic stress than is that of the wild *** expression of ABI5 restores the seed germination response of fhy3 Furthermore,the expression of several ABA-responsive genes is decreased in the fhy3 and/or far1 mutants during seed ***,FHY3 and FAR1 transcripts are up-regulated by ABA and abiotic ***,the fhy3 andfarl mutants have wider stomata,lose water faster,and are more sensitive to drought than the wild *** findings demonstrate that FHY3 and FAR I are positive regulators of ABA signaling and provide insight into the integration of light and ABA signaling,a process that may allow plants to better adapt to environmental stresses.

关键词： FHY3 light ABA signaling crosstalk

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Genomic Analysis of Chinese Giant Salamander Iridovirus(CGSIV)

Genomic Analysis of Chinese Giant Salamander Iridovirus(CGSI...

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中国遗传学会第九次全国会员代表大会暨学术研讨会

作者：李蔚 Jianguo He 董传甫 MOE Key Laboratory of Aquatic FoodSafety/StateKey Laboratory for Bio-control School of Life SciencesSunYat-sen University

Chinese giant salamander iridovirus(CGSIV) was isolated from diseased farmed Chinese giant salamanders(Andrias davidianus) in *** is a ranavirus of Iridoviridae family which includes large,icosahedral viruses containing circular,double stranded DNA *** is very limited genomic and proteomic information of *** this report,we have determined the complete genome sequence and virion proteome of the *** genome is 10,5375bp,has a G+C content of 55%,and contains 111 open reading frames(ORF).Of the 111 predicted proteins encoded by CGSIV,97 are closely related to homologs in common midwife toad ranavirus(CMTV),which has caused fatal disease in several amphibian species across Europe. The majority of CGSIV ORF have no predicted ***,functional domains alluding to possible functions were found in 40 putative proteins,including structural proteins and enzymes involved in nucleotide metabolism,DNA replication,transcription,protein modification,and virus-host *** determine the degree of colinearity of the CGSIV genome with those of other ranaviruses,we performed dot plot *** expected,CGSIV did not show major colinearity stretches when compared to the GIV-like fish *** CMTV genome was also found to not be colinear with STIV and EHNV in two separate groups of ***, compared to CMTV,an inversion of the CGSIV genomic segment located between positions～53,000 and～65,000 was observed.A phylogenetic tree was constructed based on concatenated sequences of iridovirus 26 core-gene-encoded proteins,and the result showed high bootstrap support for CGSIV being a member of the genus Ranavirus and an amphibian-like ranavirus (ALRV).CGSIV geonome structure showed that the virus belongs to CMTV group in *** order to identify the temporal class of the 26 core genes,viral transcription was initially monitored during the course of a productive replication cycle at 2,4 and 9 hours after *** confirm result

关键词： CGSIV genome ORF phylogenetic tree

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Cardiomyopathy-associated 5基因常见变异在精神分裂症中的遗传分析

Cardiomyopathy-associated 5基因常见变异在精神分裂症中的遗传...

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中国遗传学会第九次全国会员代表大会暨学术研讨会

作者：张蕊杜小云李明宿兵马捷 Department of Genetics and Molecular Biology Xi'an Jiaotong University College of Medicine State Key Laboratory of Genetic Resources and Evolution Kunming Institute of ZoologyChinese Academy of Sciences

Recently,CMYA5 was suggested as a susceptibility gene for schizophrenia based on two independent studies utilizing different ethnic *** designed a case-control study to examine whether 21 SNPs contained within CMYA5 were associated with the disorder in a western Han Chinese sample comprised of 488 schizophrenia patients and 516 healthy control *** allele distribution of SNPs rs7714250,rs 16877135 and rs 13158477 showed significant association with schizophrenia（P=0.008,P=0.04,and P=0.009,respectively）;the genotype distribution of SNPs rs7714250 and rs 13158477 also showed significant association with the disorder（P=0.00004, and P=0.038,respectively）.Analysis of haplotypes comprised of two haploblocks （rs16877133-rs16877135-rs13158477 and rs28362541-rs3828611-rs12514461） showed significant association with schizophrenia(global P=4.91×10,and a significant difference was found for the common haplotype CTGTCGG（P=0.0033）.Replication of the association of CMYA5 with schizophrenia across various studies suggest that it is very likely a potential common schizophrenia-related gene *** studies correlating CMYA5 with DTNBP1 and PKA warrant further investigation of the molecular basis of this gene in relationship to the signal transduction pathway（s） underlying the pathogenesis of schizophrenia.

关键词： Schizophrenia CMYA5 SNP Association Haplotype

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一个家族性腺瘤性息肉病家系的APC基因突变分析

一个家族性腺瘤性息肉病家系的APC基因突变分析

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中国遗传学会第九次全国会员代表大会暨学术研讨会

作者：张敏王志红钟福春兰风华南京军区福州总医院临床遗传与实验医学科

目的对1个家族性腺瘤性息肉病家系中的APC基因进行突变分析。方法通过临床表现、家族史、肠镜检测、组织病理学的分析,诊断l例家族性腺瘤性息肉病患者。提取患者外周血DNA,进行APC基因所有外显子的PCR扩增及序列分析。找到突变位点后,... 详细信息

目的对1个家族性腺瘤性息肉病家系中的APC基因进行突变分析。方法通过临床表现、家族史、肠镜检测、组织病理学的分析,诊断l例家族性腺瘤性息肉病患者。提取患者外周血DNA,进行APC基因所有外显子的PCR扩增及序列分析。找到突变位点后,对患者的两个儿子进行相应突变位点检测。结果患者APC基因发现一新的无义突变:c.289 JT>G(L964X)。其大儿携带同样突变,小儿在此位点未发生突变。这一突变造成了APC基因终止密码子的形成,从而形成有功能障碍的截短蛋白。结论 c.289lT>G(L964X)位点突变导致截短蛋白形成,是造成患者结直肠内生长上千枚息肉的原因。通过基因检测,具有基因突变而尚无表型的患儿,建议从10-12岁开始进行肠镜监测。

关键词：家族性腺瘤性息肉病 APC基因截短蛋白

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糖多孢红霉菌转录调控子SACE7301调控红霉素产量的研究

糖多孢红霉菌转录调控子SACE7301调控红霉素产量的研究

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中国遗传学会第九次全国会员代表大会暨学术研讨会

作者：刘敬涛吴杭袁莉毛永荣 David Weaver 张部昌安徽大学健康科学研究院生命科学学院

糖多孢红霉菌(Saccharopolyspora erythraea)次级代谢产物红霉素(***)是一类具有广谱抗菌活性的大环内酯类抗生素。自1952年发现以来,红霉素衍生物药品已经发展到第三代。第三代红霉素-酮内酯类抗生素(ketolide),不仅可以增强红霉素的... 详细信息

糖多孢红霉菌(Saccharopolyspora erythraea)次级代谢产物红霉素(***)是一类具有广谱抗菌活性的大环内酯类抗生素。自1952年发现以来,红霉素衍生物药品已经发展到第三代。第三代红霉素-酮内酯类抗生素(ketolide),不仅可以增强红霉素的酸稳定性,而且对许多耐药菌也具有杀死或抑制作用,被认为是临床上治疗耐药菌的有效药物。随着红霉素类药物市场需求量的增加,对红霉素高产菌株的选育也越为重要。Rodriguez及Lum

关键词：红霉素第三代抗生素生物合成 SACE7301 糖多孢红霉菌

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miR-23a在胰腺癌中的表达及对胰腺癌细胞增殖能力的影响

miR-23a在胰腺癌中的表达及对胰腺癌细胞增殖能力的影响

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中国遗传学会第九次全国会员代表大会暨学术研讨会

作者：刘宁张晓雯田园朴琳纪旭陈升王野孙开来富伟能中国医科大学医学遗传学教研室

目的探讨miR-23a在胰腺癌组织中的表达以及对胰腺癌细胞增殖能力的影响。方法应用实时荧光定量PCR方法检测40例胰腺癌及癌旁组织中miR-23a表达水平。将外源性miR-23a类似物(mimics)、抑制物(inhibitor)及阴性对照(NC)转染胰腺癌细胞Capa... 详细信息

目的探讨miR-23a在胰腺癌组织中的表达以及对胰腺癌细胞增殖能力的影响。方法应用实时荧光定量PCR方法检测40例胰腺癌及癌旁组织中miR-23a表达水平。将外源性miR-23a类似物(mimics)、抑制物(inhibitor)及阴性对照(NC)转染胰腺癌细胞Capan-2.应用实时荧光定量PCR方法检测转染前后miR-23a表达水平,应用四甲基偶氮唑蓝(MTT)法检测转染前后胰腺癌细胞的增殖能力。结果 miR-23a在胰腺癌组织中表达水平显著高于癌旁正常组织,结果具有统计学意义(p<0.05)。过表达miR-23a能够显著促进胰腺癌细胞的增殖(p<0.05)。结论 miR-23a在胰腺癌组织中高表达,且具有促进胰腺癌细胞增殖的能力,提示其在胰腺癌中发挥潜在癌基因的作用。

关键词：胰腺癌 miR-23a 细胞增殖

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ADP-核糖基化样因子15的研究现状

ADP-核糖基化样因子15的研究现状

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中国遗传学会第九次全国会员代表大会暨学术研讨会

作者：曹玲崔正伟杨康鹃延边大学医学院细胞生物学与医学遗传学教研室延边大学

ADP-核糖基化样因子15(ADP-ribosylation factor-like 15,ARLl5)是ADP-核糖基化因子(ADP-ribosylation factor,ARF)的亚家族成员之一。ARF是Ras超家族的小G蛋白。ARL与ARF成员之间有40%-60%的序列同源性。ARL广泛地存在于真核生物中,它们的种间序列保守性很高,在细胞内物质运输和信号转导过程具有重要作用。与ARF家族的其他成员相比,ARL不能作为霍乱毒的辅助因子、不能挽救ARFl和ARF2基因敲除发面酵母、不能直接激活磷酸酯酶D。最新研究发现ARLl5的单核苷酸多态(Single NucleotidePolymorphism,SNP)rs431 1394的等位基因G与脂联素水平、2型糖尿病、胰岛素水平、胰岛素抵抗相关。本文通过对ARLl5基因的生物学特性、功能、以及该基因SNPs与2型糖尿病的相关性进行综述。

关键词： ADP-核糖基化因子15 2型糖尿病单核苷酸多态性

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IRE1α dissociates with BiP and inhibits ER stressmediated apoptosis in cartilage development

IRE1α dissociates with BiP and inhibits ER stressmediated a...

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中国遗传学会第九次全国会员代表大会暨学术研讨会

作者： Xiaofeng Han Jinghua Zhou Peng Zhang Rong Jiang Feng-Jin Guo Department of Cell Biology and Genetics Core Facility of Development BiologyChongqing Medical University Laboratory of Stem Cells and Tissue Engineering Chongqing Medical University

Bone morphogenetic protein 2 is known to activate unfolded protein response signaling molecules,including XBP1S,BiP and IREIα.Endoplasmic Reticulum stress is induced in chondrogenesis and activates IRE lαsignal pathway,which is associated with ER stress-mediated ***,the influence on IRElαt and BiP in BMP2-induced chondrocyte differentiation have not yet been elucidated,the molecular mechanism remains unexplored. In this study,we demonstrate that IRE1αinteracts with BiP in unstressed cells and dissociates from BiP in the course of cartilage *** of ER stress-responsive proteins (XBPIS,IRE1α,BiP) was also observed in differentiating ***αinhibition ER stress-mediated apoptosis lies in the process of chondrocyte ***, knockdown of IRE1αexpression by way of the RNAi approach accelerates ER stress-mediated apoptosis in ehondrocyte differentiation induced by BMP2,as revealed by enhanced expression of cleaved caspase3,CHOP and p-JNK1;and this IRE1αinhibition effect on ER stress-mediated apoptosis is required for BiP in chondrogenesis. Collectively,the ER stress sensors were activated during apoptosis in cartilage development, suggesting that selective activation of ER stress signaling was sufficient for induction of apoptosis These findings reveal a novel critical role of IRElαin ER stress-mediated apoptosis and the molecular mechanisms *** results suggest that activation of p-JNKl,caspase3 and CHOP were detected in developing chondrocytes and that specific ER stress signaling leads to naturally occurring apoptosis during cartilage development.

关键词： Endoplasmic reticulum stress Apoptosis UPR IRE1α BiP cartilage development

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Functional screening for miRNAs targeting Smad4 identified miR-199a as a negative regulator of TGF-β signalling pathway

Functional screening for miRNAs targeting Smad4 identified m...

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中国遗传学会第九次全国会员代表大会暨学术研讨会

作者： Yan Zhang Kai-Ji Fan Qiang Sun Ai-Zhong Chen Wen-Long Shen Zhi-Hu Zhao Xiao-Fei Zheng Xiao Yang State Key Laboratory of Proteomics Genetic Laboratory of Development and DiseaseInstitute of Biotechnology Beijing Institute of Radiation Medicine Model Organism Division E-institutes of Shanghai UniversitiesShanghai Jiaotong University

The transforming growth factor-β(TGF-β) signalling pathway participates in various biological *** of Smad4,a central cellular transducer of TGF-βsignalling,is implicated in a wide range of human diseases and developmental ***,the mechanisms underlying Smad4 dysregulation are not fully *** a functional screening approach based on luciferase reporter assays,we identified 39 microRNAs(miRNAs) as potential regulators of Smad4 from an expression library of 388 human *** screening was supported by bioinformatic analysis,as 24 of 39 identified miRNAs were also predicted to target ***-199a,one of the identified miRNAs,was inversely correlated with Smad4 expression in various human cancer cell lines and gastric cancer tissues,and repressed Smad4 expression and blocked canonical TGF-βtranscriptional responses in cell *** effects were dependent on the presence of a conserved,but not perfect seed paired,miR-199a-binding site in the Smad4 3'-untranslated region(UTR).Overexpression of miR-199a significantly inhibited the ability of TGF-βto induce gastric cancer cell growth arrest and apoptosis in vitro,and promoted anchorage-independent growth in soft agar,suggesting that miR-199a plays an oncogenic role in human gastric *** conclusion,our functional screening uncovers multiple miRNAs that regulate the cellular responsiveness to TGF-βsignalling and reveals important roles of miR-199a in gastric cancer by directly targeting Smad4.

关键词： Functional screening for miRNAs targeting Smad4 identified miR-199a as a negative regulator of TGF miRNAs signalling pathway

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