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Mutator诱导的玉米白化突变体插入位点的遗传分析及代谢途径的构建 被引量:4
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作者 王婷婷 翟立红 +6 位作者 苏旭 冯静 李娟 高友军 陶勇生 张祖新 郑用琏 《中国农业科学》 CAS CSCD 北大核心 2010年第22期4571-4578,共8页
【目的】利用Mutator(Mu)诱变群体获得、验证叶色白化突变体的Mu因子插入位点;解析玉米叶色变异相关基因及其代谢网络。【方法】以含有活性MuDR转座子的W22∷Mu为父本,与玉米自交系综31(Z31)杂交产生的M2和M3家系群体为材料,经表型性状... 【目的】利用Mutator(Mu)诱变群体获得、验证叶色白化突变体的Mu因子插入位点;解析玉米叶色变异相关基因及其代谢网络。【方法】以含有活性MuDR转座子的W22∷Mu为父本,与玉米自交系综31(Z31)杂交产生的M2和M3家系群体为材料,经表型性状的遗传分析和Mu插入位点的分离获得白化突变体,经生物信息学方法解析白化突变体产生的相关基因,同时构建产生白化突变代谢网络。【结果】对870个M2家系的16000余单株和M3种植的36个家系近700单株进行考察,获得了遗传稳定的白化突变体41株。经Mu-TAIL-PCR分析获得35条Mu因子插入序列;对靶位点序列分析,获得的14个靶位点可能与叶绿素合成及光合作用有关;利用其中6个靶位点构建了5条玉米叶色突变产生白化的叶绿素代谢网络途径。【结论】初步证实了Mu转座子插入的27个靶位点与叶色白化突变体的关联;建立了6个靶位点的玉米叶色突变产生白化的叶绿素代谢网络途径。 展开更多
关键词 玉米(ZeamaysL.) 白化突变体 mutator转座子 Mu-TAIL-PCR 叶绿素代谢
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玉米Mutator转座子的研究进展 被引量:2
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作者 张少斌 张力 +3 位作者 刘慧 曹松屹 王雪 夏爽 《贵州农业科学》 CAS 北大核心 2013年第6期5-7,共3页
玉米Mutator(Mu)转座子具有转座活性高、诱变能力强的特点,利用Mu插入突变可以构建大型玉米突变体库,从而有利于分离和克隆玉米的重要功能基因。介绍了Mu转座子的种类和特性,以及Mu因子在玉米突变群体构建和基因克隆中的应用,旨在为利... 玉米Mutator(Mu)转座子具有转座活性高、诱变能力强的特点,利用Mu插入突变可以构建大型玉米突变体库,从而有利于分离和克隆玉米的重要功能基因。介绍了Mu转座子的种类和特性,以及Mu因子在玉米突变群体构建和基因克隆中的应用,旨在为利用Mu转座子开展玉米功能基因组学研究和玉米分子标记辅助育种提供借鉴。 展开更多
关键词 玉米 mutator转座子 突变体
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玉米ZmCIPK23基因Mutator插入突变体的鉴定 被引量:1
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作者 陈果 陈勋基 +5 位作者 李建平 郝晓燕 常晓春 足木热木 郑军 黄全生 《新疆农业科学》 CAS CSCD 北大核心 2017年第7期1185-1190,共6页
【目的】玉米ZmCIPK23基因的候选突变体连续与玉米自交系B73回交并自交,最终得到以B73为背景的纯合突变体,为研究该基因的功能奠定材料基础。【方法】从玉米Mutator(Mu)突变体库中定向筛选到玉米ZmCIPK23基因的候选突变体。在田间种植... 【目的】玉米ZmCIPK23基因的候选突变体连续与玉米自交系B73回交并自交,最终得到以B73为背景的纯合突变体,为研究该基因的功能奠定材料基础。【方法】从玉米Mutator(Mu)突变体库中定向筛选到玉米ZmCIPK23基因的候选突变体。在田间种植候选突变体,利用巢式PCR对这些后代植株进行鉴定,选择阳性植株与B73杂交。通过连续的回交及自交,最终获得该基因的纯合突变体。【结果】通过PCR鉴定,获得了以B73为背景的ZmCIPK23基因纯合的突变体zmcipk23。【结论】获得了玉米Zm CIPK23基因的Mu插入的纯合突变体zmcipk23,为研究该基因的功能奠定了基础。 展开更多
关键词 玉米 mutator转座子 Zm CIPK23 突变体
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玉米Mutator转座子 被引量:1
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作者 王益军 徐明良 +1 位作者 邓德祥 卞云龙 《玉米科学》 CAS CSCD 北大核心 2007年第6期5-9,共5页
Mutator转座子因其拷贝数高、正向突变频率高、倾向于插入低拷贝的DNA序列等独特的遗传特性,已成为基因组学研究中重要的诱变剂之一。本文对Mutator转座子的发现、Mutator家族的分类、Mutator转座子的特性、Mutator元件的表观调控、Muta... Mutator转座子因其拷贝数高、正向突变频率高、倾向于插入低拷贝的DNA序列等独特的遗传特性,已成为基因组学研究中重要的诱变剂之一。本文对Mutator转座子的发现、Mutator家族的分类、Mutator转座子的特性、Mutator元件的表观调控、Mutator转座子标签在植物基因组学研究中的应用作了综述。对Mutator系统的研究进行了展望。 展开更多
关键词 玉米 mutator转座子 标签
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Mutator转座子及MULE在植物基因与基因组进化中的作用(英文) 被引量:4
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作者 刁现民 Damon Lisch 《Acta Genetica Sinica》 SCIE CAS CSCD 北大核心 2006年第6期477-487,共11页
Mutator(Mu)转座子是植物中已发现的转座最活跃的转座子,其高的转座频率及趋向于单拷贝功能基因转座的特性,使该转座子成为玉米功能基因克隆的主要方法。Mu转座子的同源类似因子广泛存在于被子植物基因组中,而且同一基因组中往往具有多... Mutator(Mu)转座子是植物中已发现的转座最活跃的转座子,其高的转座频率及趋向于单拷贝功能基因转座的特性,使该转座子成为玉米功能基因克隆的主要方法。Mu转座子的同源类似因子广泛存在于被子植物基因组中,而且同一基因组中往往具有多种变异类型。它不仅具有其他DNA转座子在基因和基因组进化中的普遍作用,而且具有能够承载基因组内功能基因和基因片段的载体功能,这种载体Mu转座子(Pack-MuLEs)能够在基因组内移动众多的基因片段,从而对基因和基因组进化产生作用。Mu转座子的同源序列发生在水稻与狗尾草之间的水平转移提供了高等植物核基因水平转移的首个例证。对Mu转座子的了解促进了我们对动态基因组概念的认识。文章对Mutator转座子的发现、转座特征、基因标签应用等的研究进展进行了综述,对Mu转座子家族的同源序列进行了分类,讨论了该转座子在基因组进化中的作用,分析了应加强研究的问题。 展开更多
关键词 mutator 转座子 基因组进化 MULE 载体Mu转座子
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玉米Mutator转座子系统的应用及展望
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作者 高志勇 谢恒星 +1 位作者 李吉锋 刘史力 《山东农业科学》 2018年第5期168-172,共5页
转座子标签法是近年来发展起来的一种非常有效的分子生物技术,是一种利用TEs插入高等植物基因组中造成基因突变,然后通过分离TEs插入的旁邻序列,克隆出突变基因的策略。这种策略在高等植物的功能基因组学研究中十分有用。玉米转座子系... 转座子标签法是近年来发展起来的一种非常有效的分子生物技术,是一种利用TEs插入高等植物基因组中造成基因突变,然后通过分离TEs插入的旁邻序列,克隆出突变基因的策略。这种策略在高等植物的功能基因组学研究中十分有用。玉米转座子系统主要有En/Spm系统、Ac/Ds系统和Mutator系统三大类。其中Mutator转座子易于插入到基因内部及基因周围,引起的正向突变频率为10^(-5)~10^(-4),比野生玉米高出近30倍,所引起的突变大部分为隐性突变。由Mutator转座子引起的突变,可以通过TAIL-PCR的方法,对相关的突变基因进行克隆。当前通过这种方法,已经克隆出一些重要的基因。本文主要介绍了Mutator转座子的应用,并对Mutator转座子系统的研究前景进行了展望。 展开更多
关键词 玉米 mutator转座子 应用 展望
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Mutator转座子介导的玉米甜质突变体侧翼序列克隆 被引量:2
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作者 成业 么大轩 +2 位作者 刘云婷 胡文静 段会军 《华北农学报》 CSCD 北大核心 2016年第2期28-31,共4页
为了探讨Mu转座子使玉米发生甜质突变的分子机理,利用Mu-AFLP方法分离Mutator转座子插入位点的侧翼序列,并根据侧翼序列的延伸设计一对特异性引物P1、P2,验证转座子插入的真实性,同时对插入位点所在的基因进行生物信息学分析。结果显示... 为了探讨Mu转座子使玉米发生甜质突变的分子机理,利用Mu-AFLP方法分离Mutator转座子插入位点的侧翼序列,并根据侧翼序列的延伸设计一对特异性引物P1、P2,验证转座子插入的真实性,同时对插入位点所在的基因进行生物信息学分析。结果显示:侧翼序列长299 bp,插入位点位于第3染色体,该转座子的插入属于真实插入;突变基因全长5 746 bp,共编码592个氨基酸;所编码蛋白的理论分子量为67.5 k Da,疏水性氨基酸含量为42.06%,具有10个跨膜结构域,属于亲水性内膜蛋白。该结果为更好地利用Mutator转座子创制甜玉米新种质奠定了基础,也对揭示玉米胚乳发育与淀粉合成机制具有重要意义。 展开更多
关键词 甜玉米 mutator转座子 玉米 Mu-AFLP
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Mutator转座子介导的玉米胚大小突变体的遗传分析
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作者 王荣纳 李映辉 +1 位作者 杨伟峰 陶勇生 《河北农业大学学报》 CAS CSCD 北大核心 2013年第4期7-11,共5页
玉米胚大小是由多基因控制的数量性状。本研究以Mutator(Mu)转座子诱变的M5和BC2F2群体为材料,采用数码成像和Photoshop软件相结合的方法测定胚大小,计算胚面积与籽粒面积;以胚面积和籽粒面积的比值(SST)作为胚性状评价标准,对M5和BC2F... 玉米胚大小是由多基因控制的数量性状。本研究以Mutator(Mu)转座子诱变的M5和BC2F2群体为材料,采用数码成像和Photoshop软件相结合的方法测定胚大小,计算胚面积与籽粒面积;以胚面积和籽粒面积的比值(SST)作为胚性状评价标准,对M5和BC2F2诱变材料进行遗传分析。结果表明:在2种世代的诱变群体中共获得了8个胚大小突变体;用MuTail-PCR方法分析突变体材料Mu插入位点的侧翼序列,获得了Mu因子真实性插入的2个靶位点;经Blastn功能分析,该2个靶位点可能与编码鸟嘌呤核苷酸结合蛋白和一种泛素连接酶有关。这些突变体为进一步克隆控制胚大小的基因提供了宝贵的材料。 展开更多
关键词 玉米(Zea mays L ) mutator 突变体 MuTail-PCR
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Mutator转座子介导的PPR插入位点分离与遗传分析
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作者 杨伟峰 王荣纳 +4 位作者 曹晓良 张祖新 陶勇生 陈景堂 郑用琏 《中国农学通报》 CSCD 2013年第3期180-183,共4页
利用Mutator(Mu)诱变群体,进行Mu因子插入PPR(Pentatricopeptide Repeats,PPR)位点的分离,及其插入真实性验证。以含活性Mu转座子为父本和玉米自交系综31(Z31)杂交,经与Z31多代回交和自交获得BC3F2为材料,利用Mu-AFLP方法分离Mu插入侧... 利用Mutator(Mu)诱变群体,进行Mu因子插入PPR(Pentatricopeptide Repeats,PPR)位点的分离,及其插入真实性验证。以含活性Mu转座子为父本和玉米自交系综31(Z31)杂交,经与Z31多代回交和自交获得BC3F2为材料,利用Mu-AFLP方法分离Mu插入侧翼序列的PPR位点,且验证插入真实性。采用Mu-AFLP方法获得Mu因子插入侧翼序列14条,去除冗余序列2条和重复序列8条,其余4条为Mu因子插入的基因序列,经基因型遗传分析验证了2条侧翼序列为真实插入。经功能分析,其中1个为PPR突变位点,且Mu因子插入于该基因5’UTR区第121bp和第122bp碱基之间。经基因组定位和功能分析,显示Mu插入位点定位在第6染色体上,为PPR基因家族,能够编码PPR蛋白,推测可能与玉米叶色变化有关。 展开更多
关键词 玉米 mutator PPR基因
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Morphological,Biochemical and Genetic Analysis of a Brittle Stalk Mutant of Maize Inserted by Mutator 被引量:2
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作者 FU Xue-qian FENG Jing +3 位作者 YU Bin GAO You-jun ZHENG Yong-lian YUE Bing 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2013年第1期12-18,共7页
Mutants on stalk strength are essential materials for the studies on the formation of plant cell wall.In this study,a brittle stalk mutant of maize,designated as Bk-x,was screened from a Mutator inserted mutant librar... Mutants on stalk strength are essential materials for the studies on the formation of plant cell wall.In this study,a brittle stalk mutant of maize,designated as Bk-x,was screened from a Mutator inserted mutant library.At the germination and early seedling stage,the mutant plants were indistinguishable from the normal ones.However,all of the plant organs were brittle after the 5th-leaf stage and remained brittle throughout the rest of the growing period.Microstructure observation showed that the cell wall in vascular bundle sheath of Bk-x was thinner than that in normal plants.The leaf mechanical strength in Bk-x was 77.9% of that in normal plants growing at Xishuangbanna(BN),Yunnan province and that was 61.7% in Wuhan(WH),Hubei Province,China.The proportion of cellulose was 12.3% in Bk-x,which was significantly lower than that in normal plants(26.7%),while the soluble sugar content was 36.1% in Bk-x,which is significantly higher than that in normal plants(12.4%).Genetic analysis using two F 2 populations and one F 2:3 families demonstrated that the trait of brittle stalk is controlled by a single recessive gene. 展开更多
关键词 mutator cellulose brittle stalk mutant cell wall mechanical strength
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Mutator超家族转座子研究进展 被引量:2
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作者 从春生 李玉斌 《遗传》 CAS CSCD 北大核心 2020年第2期131-144,共14页
转座子是一类可以在基因组中不同遗传位点间移动的DNA序列,在其转移过程中有时会伴随自身拷贝数的增加。作为基因组的重要组成部分,转座子可以通过多种方式影响宿主基因及基因组的结构与功能,进而在宿主的演化过程中扮演重要角色。目前... 转座子是一类可以在基因组中不同遗传位点间移动的DNA序列,在其转移过程中有时会伴随自身拷贝数的增加。作为基因组的重要组成部分,转座子可以通过多种方式影响宿主基因及基因组的结构与功能,进而在宿主的演化过程中扮演重要角色。目前依据转座过程中间体类型的不同可以将其分为I类转座子和II类转座子。Mutator超家族转座子是20世纪70年代在玉米(Zea may L.)中发现的一类特殊的转座子,其属于II类转座子,广泛存在于真核生物基因组中,包含遗传特征明晰可分的众多转座子家族。此外,该超家族转座子转座频率高,倾向于插入基因富含区及低拷贝序列区,可快速产生大量新的突变体,目前已被广泛应用于正向及反向遗传学研究。本文结合近年来相关研究结果,围绕Mutator超家族转座子的分类组成、结构特征、转座机制、插入偏好、靶位点重复序列以及玉米自主性MULEs元件展开综述,并对转座子研究面临的问题及未来研究方向进行了探讨,旨在与研究领域内的同行探讨相关研究的可能突破点、未来发展方向及可能产生的重大影响。 展开更多
关键词 mutator超家族 Mu家族 MULEs元件 转座机制 插入偏好 靶位点重复序列
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Isolating the Mutator Transposable Element Insertional Mutant Gene mio16 of Maize Using Double SelectedAmplification of Insertion Flanking Fragments (DSAIFF)
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作者 ZHONG Wen-juan ZHANGMei-dong +4 位作者 YANG Liu-qi WANG Ming-chun ZHENG Yong-lian YANG Wen-peng GAO You-jun 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2012年第10期1592-1600,共9页
Mutator transposable element (Mu) has been used as an effective tool to clone maize (Zea mays L.) genes. One opaque endosperm mutant (miol6) was identified in a pool of Mu inserted mutants. A modified method, te... Mutator transposable element (Mu) has been used as an effective tool to clone maize (Zea mays L.) genes. One opaque endosperm mutant (miol6) was identified in a pool of Mu inserted mutants. A modified method, termed the double selected amplification of insertion flanking fragments (DSAIFF), was employed to isolate the Mu flanking fragments (MFFs) of miol6. The target site duplications (TSDs) isolated from the Msp I and Mse I digested MFFs had a same 9-bp sequence and were confirmed to be the flanking sequence of one identically inserted gene. Co-segregation analysis suggested that the MFFs were associated with the mutant opaque endosperm, and miol6 was mapped in silico onto the physical position ranged from 229 965 021 to 229 965 409 bp of the maize chromosome 4.09 bin. The full-length cDNA of the wild-type gene was obtained by an RT-PCR primer-scanning technique, and Mio16 was found to putatively encode a homolog of the Arabidopsis MAP3K delta-1 protein kinase. RT-PCR result the mRNA expression of miol6 region anchored by primers Mu20 and af276 was not interrupted by Mu insertion. Further researches will be done to elucidate how the expression of miol6 is alternated by Mu insertion. 展开更多
关键词 maize (Zea mays L.) mutator (Mu) transposable element Mu flanking fragments (MFFs) double selected amplification of insertion flanking fragments (DSAIFF) miol6
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Mutator转座子介导的玉米插入突变体库的构建及遗传评价 被引量:8
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作者 刘文婷 高友军 +2 位作者 腾峰 史卿 郑用琏 《科学通报》 EI CAS CSCD 北大核心 2006年第17期2030-2036,共7页
以Q105,WW51,115F,V26-2,919J为Mutator转座子供体材料,与本地优良玉米自交系受体材料Hz85,W328以及S-Mo17Rf3Rf3杂交,获得26718单株的插入诱变F1群体(M1).田间鉴定M1单株的生物学特征及农艺学性状的表型突变,室内考察突变单株自交果穗M... 以Q105,WW51,115F,V26-2,919J为Mutator转座子供体材料,与本地优良玉米自交系受体材料Hz85,W328以及S-Mo17Rf3Rf3杂交,获得26718单株的插入诱变F1群体(M1).田间鉴定M1单株的生物学特征及农艺学性状的表型突变,室内考察突变单株自交果穗M2籽粒性状的突变类型,并以斑点籽粒出现的频率评价Mu因子的转座频率.结果表明,在所构建的Mu介导的玉米插入突变体库中,以W328为母本(BzBz)的M1群体平均田间表型突变频率为0.07;以W328×Mu的M2果穗斑点籽粒的出现频率评价的Mu转座频率为0.121802;在22500个S-Mo17Rf3Rf3×Mu单株中,发现了5个S型玉米细胞质雄性不育突变单株,突变频率为2.2×10?4.利用优化的MuTAIL-PCR技术分析了99条转座子插入位点的侧翼序列,归并整理后获得59条(每条约400核苷酸序列)非重复靶位点序列.对59条序列非重复的Mu因子插入产生的9bp靶位点正向重复序列进行同源性比较分析,结果表明,Mu的插入有序列热点.经生物信息学分析后注释了27条与玉米、水稻等植物核苷酸数据库中匹配值较高的功能序列.利用比较基因组学方法将36条单一基因序列定位在玉米遗传图谱上,有多条Mu插入靶位点序列定位在单个标记位点上.分析发现,8条Mu插入靶位点序列的预测功能与其相应的定位标记的功能具有一致性.Mu插入突变体库的构建与遗传评价为利用Mu转座子进一步发掘玉米基因、深入开展玉米功能基因组学研究搭建起重要的技术与材料平台. 展开更多
关键词 玉米 mutator转座子 突变体库 MuTAIL-PCR
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玉米Mutator转座子的结构特征与作用性质
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作者 高志勇 谢恒星 +1 位作者 刘楠楠 刘史力 《玉米科学》 CAS CSCD 北大核心 2016年第2期47-50,共4页
玉米转座子系统主要有En/Spm系统、Ac/Ds系统和Mutator系统3大类,其中Mutator转座子易于插入到基因内部及基因周围,引起的正向突变频率为10-4~10-5,比野生玉米高出近30倍,所引起的突变大部分为隐性突变。由转座子引起的突变,可以通过TAI... 玉米转座子系统主要有En/Spm系统、Ac/Ds系统和Mutator系统3大类,其中Mutator转座子易于插入到基因内部及基因周围,引起的正向突变频率为10-4~10-5,比野生玉米高出近30倍,所引起的突变大部分为隐性突变。由转座子引起的突变,可以通过TAIL-PCR的方法对相关的突变基因进行克隆。本文主要对Mutator转座子的种类、结构特征和作用性质进行综述,并对Mutator转座子的研究应用进行展望。 展开更多
关键词 玉米 mutator转座子 结构特征
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A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family
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作者 Zhi-Bo Lin Chun-Yun Feng +4 位作者 Jin Li An-Peng Pan Hai-Sen Sun A-Yong Yu Shi-Hao Chen 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2024年第3期466-472,共7页
●AIM:To investigate the molecular diagnosis of a threegeneration Chinese family affected with aniridia,and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.●METHODS:Eleven fa... ●AIM:To investigate the molecular diagnosis of a threegeneration Chinese family affected with aniridia,and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.●METHODS:Eleven family members with and without atypical aniridia were recruited.All family members underwent comprehensive ophthalmic examinations.A combination of whole exome sequencing(WES)and direct Sanger sequencing were performed to uncover the causative mutation.●RESULTS:Among the 11 family members,8 were clinically diagnosed with congenital aniridia(atypical aniridia phenotype).A rare heterozygous mutation c.622C>T(p.Arg208Trp)in exon 8 of PAX6 was identified in all affected family members but not in the unaffected members or in healthy control subjects.●CONCLUSION:A rare missense mutation in the PAX6 gene is found in members of a three-generation Chinese family with congenital atypical aniridia.This result contributes to an increase in the phenotypic spectrum caused by PAX6 missense heterozygous variants and provides useful information for the clinical diagnosis of atypical aniridia,which may also contribute to genetic counselling and family planning. 展开更多
关键词 PAX6 gene atypical aniridia missense mutation MUTATION
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Analysis of environmental selection pressure of superoxide dismutase in deep-sea sea cucumber
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作者 Yanan LI Zongfu CHEN +3 位作者 Haibin ZHANG Ruoyu LIU Shuichun CHEN Li LIN 《Journal of Oceanology and Limnology》 SCIE CAS CSCD 2024年第3期893-904,共12页
Manganese superoxide dismutase(MnSOD)is an antioxidant that exists in mitochondria and can effectively remove superoxide anions in mitochondria.In a dark,high-pressure,and low-temperature deep-sea environment,MnSOD is... Manganese superoxide dismutase(MnSOD)is an antioxidant that exists in mitochondria and can effectively remove superoxide anions in mitochondria.In a dark,high-pressure,and low-temperature deep-sea environment,MnSOD is essential for the survival of sea cucumbers.Six MnSODs were identified from the transcriptomes of deep and shallow-sea sea cucumbers.To explore their environmental adaptation mechanism,we conducted environmental selection pressure analysis through the branching site model of PAML software.We obtained night positive selection sites,and two of them were significant(97F→H,134K→V):97F→H located in a highly conservative characteristic sequence,and its polarity c hange might have a great impact on the function of MnSOD;134K→V had a change in piezophilic a bility,which might help MnSOD adapt to the environment of high hydrostatic pressure in the deepsea.To further study the effect of these two positive selection sites on MnSOD,we predicted the point mutations of F97H and K134V on shallow-sea sea cucumber by using MAESTROweb and PyMOL.Results show that 97F→H,134K→V might improve MnSOD’s efficiency of scavenging superoxide a nion and its ability to resist high hydrostatic pressure by moderately reducing its stability.The above results indicated that MnSODs of deep-sea sea cucumber adapted to deep-sea environments through their amino acid changes in polarity,piezophilic behavior,and local stability.This study revealed the correlation between MnSOD and extreme environment,and will help improve our understanding of the organism’s adaptation mechanisms in deep sea. 展开更多
关键词 HOLOTHUROIDEA environmental adaptation positive selection point mutation
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Genetic pathways in cerebral palsy:a review of the implications for precision diagnosis and understanding disease mechanisms
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作者 Yiran Xu Yifei Li +2 位作者 Seidu A.Richard Yanyan Sun Changlian Zhu 《Neural Regeneration Research》 SCIE CAS CSCD 2024年第7期1499-1508,共10页
Ce rebral palsy is a diagnostic term utilized to describe a group of permanent disorders affecting movement and posture.Patients with cerebral palsy are often only capable of limited activity,resulting from non-progre... Ce rebral palsy is a diagnostic term utilized to describe a group of permanent disorders affecting movement and posture.Patients with cerebral palsy are often only capable of limited activity,resulting from non-progressive disturbances in the fetal or neonatal brain.These disturbances severely impact the child’s daily life and impose a substantial economic burden on the family.Although cerebral palsy encompasses various brain injuries leading to similar clinical outcomes,the unde rstanding of its etiological pathways remains incomplete owing to its complexity and heterogeneity.This review aims to summarize the current knowledge on the genetic factors influencing cerebral palsy development.It is now widely acknowledged that genetic mutations and alterations play a pivotal role in cerebral palsy development,which can be further influenced by environmental fa ctors.Des pite continuous research endeavors,the underlying fa ctors contributing to cerebral palsy remain are still elusive.However,significant progress has been made in genetic research that has markedly enhanced our comprehension of the genetic factors underlying cerebral palsy development.Moreove r,these genetic factors have been categorized based on the identified gene mutations in patients through clinical genotyping,including thrombosis,angiogenesis,mitochondrial and oxidative phosphorylation function,neuronal migration,and cellular autophagy.Furthermore,exploring targeted genotypes holds potential for precision treatment.In conclusion,advancements in genetic research have substantially improved our understanding of the genetic causes underlying cerebral palsy.These breakthroughs have the potential to pave the way for new treatments and therapies,consequently shaping the future of cerebral palsy research and its clinical management.The investigation of cerebral palsy genetics holds the potential to significantly advance treatments and management strategies.By elucidating the underlying cellular mechanisms,we can develop to rgeted interventions to optimize outcomes.A continued collaboration between researchers and clinicians is imperative to comprehensively unravel the intricate genetic etiology of cerebral palsy. 展开更多
关键词 cerebral palsy environmental factors ETIOLOGY genetic factors genetic mutation movement disorder spastic diplegia
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Prevention of thromboembolic events after radical prostatectomy in patients with hereditary thrombophilia due to a factor V Leiden mutation by multidisciplinary coagulation management
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作者 Randi M.Pose Sophie Knipper +6 位作者 Jonas Ekrutt Mara Kölker Pierre Tennstedt Hans Heinzer Derya Tilki Florian Langer Markus Graefen 《Asian Journal of Urology》 CSCD 2024年第1期42-47,共6页
Objective:To examine the perioperative impact of factor V Leiden mutation on thromboembolic events'risk in radical prostatectomy(RP)patients.With an incidence of about 5%,factor V Leiden mutation is the most commo... Objective:To examine the perioperative impact of factor V Leiden mutation on thromboembolic events'risk in radical prostatectomy(RP)patients.With an incidence of about 5%,factor V Leiden mutation is the most common hereditary hypercoagulability among Caucasians and rarer in Asia.The increased risk of thromboembolic events is three-to seven-fold in heterozygous and to 80-fold in homozygous patients.Methods:Within our prospectively collected database,we analysed 33006 prostate cancer patients treated with RP between December 2001 and December 2020.Of those,patients with factor V Leiden mutation were identified.All patients received individualised recommendation of haemostaseologists for perioperative anticoagulation.Thromboembolic complications(deep vein thrombosis and pulmonary embolism)were assessed during hospital stay,as well as according to patient reported outcomes within the first 3 months after RP.Results:Overall,85(0.3%)patients with known factor V Leiden mutation were identified.Median age was 65(interquartile range:61-68)years.There was at least one thrombosis in 53(62.4%)patients and 31(36.5%)patients had at least one embolic event in their medical history before RP.Within all 85 patients with factor V Leiden mutation,we experienced no thromboembolic complications within the first 3 months after surgery.Conclusion:In our cohort of patients with factor V Leiden mutation,no thromboembolic events were observed after RP with an individualised perioperative coagulation management concept.This may reassure patients with this hereditary condition who are counselled for RP. 展开更多
关键词 Prostatecancer Prostatectomy Factor V Leiden mutation THROMBOEMBOLISM THROMBOPHILIA
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Conservation genomic investigation of an endangered conifer,Thuja sutchuenensis,reveals low genetic diversity but also low genetic load
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作者 Tongzhou Tao Richard IMilne +4 位作者 Jialiang Li Heng Yang Shiyang Wang Sihan Chen Kangshan Mao 《Plant Diversity》 SCIE CAS CSCD 2024年第1期78-90,共13页
Endangered species generally have small populations with low genetic diversity and a high genetic load.Thuja sutchuenensis is an endangered conifer endemic to southwestern China.It was once considered extinct in the w... Endangered species generally have small populations with low genetic diversity and a high genetic load.Thuja sutchuenensis is an endangered conifer endemic to southwestern China.It was once considered extinct in the wild,but in 1999 was rediscovered.However,little is known about its genetic load.We collected 67 individuals from five wild,isolated T.sutchuenensis populations,and used 636,151 SNPs to analyze the level of genetic diversity and genetic load in T.sutchuenensis to delineate the conservation units of T.sutchuenensis,based on whole transcriptome sequencing data,as well as target capture sequencing data.We found that populations of T.sutchuenensis could be divided into three groups.These groups had low levels genetic diversity and were moderately genetically differentiated.Our findings also indicate that T.sutchuenensis suffered two severe bottlenecks around the Last Glaciation Period and Last Glacial Maximum.Among Thuja species,T.sutchuenensis presented the lowest genetic load and hence might have purged deleterious mutations efficiently through purifying selection.However,distribution of fitness effects analysis indicated a high extinction risk for T.sutchuenensis.Multiple lines of evidence identified three management units for T.sutchuenensis.Although T.sutchuenensis possesses a low genetic load,low genetic diversity,suboptimal fitness,and anthropogenic pressures all present an extinction risk for this rare conifer.This might also hold true for many endangered plant species in the mountains all over the world. 展开更多
关键词 Sichuan Arborvitae Genetic load Deleterious mutations Demographic history Conservation genomics
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Haploids can be induced in knockout mutants of OsPLA1,but not OsDMP3 or OsDMP6,in rice
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作者 Zongkai Liu Yu Zhong +8 位作者 Xiaolong Qi Tai An Shuwei Guo Dong Wang Yuwen Wang Bin Feng Zuofeng Zhu Shaojiang Chen Chenxu Liu 《The Crop Journal》 SCIE CSCD 2024年第1期213-221,共9页
Doubled haploid(DH)technology is an important tool in crop breeding because it can significantly accelerate the breeding process.ZmPLA1/MATL/NLD and ZmDMP are two key genes controlling haploid induction(HI)in maize,ex... Doubled haploid(DH)technology is an important tool in crop breeding because it can significantly accelerate the breeding process.ZmPLA1/MATL/NLD and ZmDMP are two key genes controlling haploid induction(HI)in maize,exhibiting a synergistic effect.However,it is unknown whether knock out of ZmDMP orthologs can stimulate HI in rice.In this study,a ZmPLA1 ortholog(OsPLA1)and two ZmDMP orthologs(OsDMP3 and OsDMP6)were identified in rice.All three genes encode plasma membrane-localized proteins and were highly expressed in mature anthers.Knockout of OsPLA1 in both Minghui 63 and Nipponbare resulted in reduced seed setting rate(SSR)and caused HI.The osdmp3,osdmp6 and the double mutant failed to trigger HI independently,nor increased the haploid induction rate(HIR)when combined with ospla1.Repeated pollinations operations of QX654A with the ospla1 mutant significantly improve SSR,while reducing HIR.RNA-seq profiling of mature ospla1 mutant anthers indicated that a large number of differentially expressed genes(DEGs)were enriched in redox homeostasis and lipid metabolic GO terms,plant hormone signal transduction,and MAPK signaling pathways.These findings provide important insights towards construction of an efficient DH breeding technology and study of the molecular mechanism of HI in rice. 展开更多
关键词 Doubled haploid breeding Haploid induction Mutation anlaysis RICE
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