KCNQ1 gain-of-function mutation in familial atrial fibrillation

Atrial fibrillation (AF) is a common cardiac arrhythmia whose molecular etiology is poorly understood. We studied a family with hereditary persistent AF and identified the causative mutation (S140G) in the KCNQ1 (KvLQT1) gene on chromosome 11p15.5. The KCNQ1 gene encodes the pore-forming alpha subunit of the cardiac I(Ks) channel (KCNQ1/KCNE1), the KCNQ1/KCNE2 and the KCNQ1/KCNE3 potassium channels. Functional analysis of the S140G mutant revealed a gain-of-function effect on the KCNQ1/KCNE1 and the KCNQ1/KCNE2 currents, which contrasts with the dominant negative or loss-of-function effects of the KCNQ1 mutations previously identified in patients with long QT syndrome. Thus, the S140G mutation is likely to initiate and maintain AF by reducing action potential duration and effective refractory period in atrial myocytes.     

拟南芥sscd1–1点突变对其表达的影响

为了探明拟南芥sscd1–1突变体中sscd1–1突变基因表达水平的降低是由剪切效率所致还是由自身启动子影响所致,分别构建了由外源35S启动子驱动的SSCD1正常基因和sscd1–1突变基因的表达载体及由内源自身启动子驱动的SSCD1正常基因和sscd1–1突变基因的表达载体,并将其转入到拟南芥sscd1–1突变体中。采用RT–PCR分析sscd1–1突变基因的表达。结果显示:外源35S启动子驱动的sscd1–1突变基因的表达与正常基因相比没有明显差别,而内源自身启动子驱动的sscd1–1突变基因的表达显著降低,这表明sscd1–1的点突变没有影响其剪切效率;sscd1–1突变基因表达水平的降低是由内源自身启动子影响所致。     

Frequent recombination in a saltern population of Halorubrum

Sex and recombination are driving forces in the evolution of eukaryotes. Homologous recombination is known to be the dominant process in the divergence of many bacterial species. For Archaea, the only direct evidence bearing on the importance or natural occurrence of homologous recombination is anecdotal reports of mosaicism from comparative genomic studies. Genetic studies, however, reveal that recombination may play a significant role in generating diversity among members of at least one archaeal group, the haloarchaea. We used multi-locus sequence typing to demonstrate that haloarchaea exchange genetic information promiscuously, exhibiting a degree of linkage equilibrium approaching that of a sexual population.     

贺兰山习见苔藓植物

该文报道了贺兰山习见的苔藓植物计１４科、２２属、２９种．     

植物组织培养过程中常见问题及解决方法

从常见的污染现象、褐化现象、玻璃化现象、黄化现象和变异率高5个问题着手,阐述了形成的原因及解决方法,对植物的组织快繁和工厂化育苗具有一定的意义。     

Frequent long-distance plant colonization in the changing Arctic

The ability of species to track their ecological niche after climate change is a major source of uncertainty in predicting their future distribution. By analyzing DNA fingerprinting (amplified fragment-length polymorphism) of nine plant species, we show that long-distance colonization of a remote arctic archipelago, Svalbard, has occurred repeatedly and from several source regions. Propagules are likely carried by wind and drifting sea ice. The genetic effect of restricted colonization was strongly correlated with the temperature requirements of the species, indicating that establishment limits distribution more than dispersal. Thus, it may be appropriate to assume unlimited dispersal when predicting long-term range shifts in the Arctic.     

望谟县频发洪水对环境的影响

概述了望谟县的地理条件与气候状况,分析了该地洪水频发的原因,并从民生、农业、林业、水利、建设方面提出了相关环境保护措施。     

somatostatin1基因突变斑马鱼仔鱼转录组分析

生长抑素（Somatostatin,SST）是一类神经激素多肽,对脊椎动物的生长和代谢起着关键的调控作用。在斑马鱼（Danio rerio）和其它鱼类中,生长抑素由6个基因编码（sst1-sst6）,sst1存在于所有脊椎动物中,并且在进化上最为保守。本研究利用CRISPR/Cas9基因编辑技术在斑马鱼中构建了可稳定遗传的生长抑素基因sst1突变体鱼系。通过比较6 dpf（days post fertilization,dpf）的sst1-/-突变体和野生型仔鱼转录组,发现sst1-/-突变体相关生化过程和信号通路发生了显著变化。相比野生型,sst1-/-突变体仔鱼中有354个基因显著上调,504个基因显著下调。GO（Gene ontology）富集分析表明,大部分差异基因与氨基酸和蛋白质生物合成相关。KEGG（Kyoto encyclopedia of genes and genomes）通路富集显示代谢通路、氨基酸合成、氨基酰基- tRNA合成、核糖体合成和rRNA加工相关通路表达增强。结果表明,sst1-/-突变体蛋白质生物合成和代谢过程更加活跃。RT-qPCR验证结果显示,随机选取的10个基因mRNA表达变化趋势与转录组测序结果一致,说明转录组测序结果真实可靠。6月龄突变体体重体长和野生型相比并无显著差异。本研究结果为进一步挖掘生长抑素基因家族的潜在功能奠定基础。     

航天诱变广东紫珠SP1代选育研究

广东紫珠是江西省道地森林药材,在萍乡市已有多年的种植历史。本研究以“神舟八号”飞船搭载的广东紫珠种子为试验材料,以株高、地径和形态特征变异为选育目标,通过筛选SP₁代变异单株进行广东紫珠新种质选育。结果表明：广东紫珠SP₁代群体株高、地径生长量变异均大于对照(低温储藏种子)群体;从SP₁代群体中选育出4个变异株,可为后续研究提供选育方向。     

新疆棉田茧蜂常见种类记述

研究表明,新疆主要棉区棉田茧蜂种类有9种,常见种类有5种:麦蛾柔茧蜂(Habrobracon hebetor Say)、中红侧沟茧蜂(Microplitis mediator Haliday)、地老虎长体茧蜂(Macrocentrus collaris Spinola)、瓢虫茧蜂(Dinocampus coccinellae schrenk)、燕麦蚜茧蜂(Aphidius evenae Haliday),分别属于5个亚科.其中麦蛾柔茧蜂是新疆棉田棉铃虫幼虫的优势种寄生蜂.研究并详细记述了新疆棉田常见茧蜂种类的分类地位、形态特征和分布.     

Predominant expression of T cell receptor V alpha 7 in tumor-infiltrating lymphocytes of uveal melanoma

Expression of T cell receptor (TCR) V alpha genes in tumor-infiltrating lymphocytes (TILs) within intraocular melanoma was studied. Primers for 18 different human TCR V alpha families were used to analyze TCR V alpha-C alpha gene rearrangements in TIL in these melanomas obtained at surgery. A limited number of TCR V alpha genes were expressed and rearranged in these tumors, and TILs expressing V alpha 7 were found in seven of eight of these uveal melanomas. TCR gene usage is also restricted in experimental autoimmune disease, in T cells within organs like skin and other epithelial tissues, and in the brain of patients with multiple sclerosis (MS). The restricted usage of TCR genes in TIL may indicate that a specific antigen in these melanomas is targeted.     

Nod2 mutation in Crohn's disease potentiates NF-kappaB activity and IL-1beta processing

Variants of NOD2, an intracellular sensor of bacteria-derived muramyl dipeptide (MDP), increase susceptibility to Crohn's disease (CD). These variants are thought to be defective in activation of nuclear factor kappaB (NF-kappaB) and antibacterial defenses, but CD clinical specimens display elevated NF-kappaB activity. To illuminate the pathophysiological function of NOD2, we introduced such a variant to the mouse Nod2 locus. Mutant mice exhibited elevated NF-kappaB activation in response to MDP and more efficient processing and secretion of the cytokine interleukin-1beta (IL-1beta). These effects are linked to increased susceptibility to bacterial-induced intestinal inflammation and identify NOD2 as a positive regulator of NF-kappaB activation and IL-1beta secretion.     

籼稻品种杂交后代垩白性状频数分布及遗传分析

对籼稻品种杂交后代的研究表明,其稻米垩白面积为连续分布,在小垩白／小垩白组合中,分布曲线为单峰,主峰在无垩白处,且发生频率很高;在中垩白／中垩白组合中,分布曲线为不明显双峰,主峰与低谷之间的发生频率相关差不大,主峰在无垩白、小垩白、中垩白、大垩白处皆有分布,说明杂交后代垩白性状发生了广泛分离。遗传分析表明,籼稻品种杂交后工垩白性状主要受胚乳基因型控制,存在细胞质效应,说明杂交稻稻米要减少垩白面积应     

猪肛门闭锁候选基因FN1的克隆及其编码区突变

利用猪的SNP芯片筛选锁肛致病候选基因,在猪15号染色体候选区域筛选出纤连蛋白1(fibronectin 1,FN1)基因。分别用锁肛猪和正常猪cDNA池克隆得到FN1基因开放阅读框的7 437bp序列,鉴定3个选择性剪切外显子,并通过直接测序获得21个编码区单核苷酸多态位点(SNPs)。其中第22外显子的148AG和第27外显子的50GC引起氨基酸的改变(1 167IleVal,1 435Glu-Asp),且这2个SNPs在现有锁肛猪和正常猪样品中基因型频率和基因频率均差异显著。研究结果提示FN1基因的突变可能影响肛门直肠的正常发育过程,但还需要进一步的功能验证。     

奶牛乳脂性状候选基因EEF1D突变位点功能分析

提高乳脂含量、提升奶质已成为当前奶牛业研究的重点方向之一。前期经GWAS方法研究发现,EEF1D基因5′非翻译区(5′-UTR)的G/A突变与乳脂率极显著相关,为了进一步对候选基因EEF1D的突变位点进行功能分析,首先通过人工合成获得了EEF1D基因突变型与野生型片段,并在细胞水平上对其开展了功能验证实验。研究发现,EEF1D基因5′-UTR的G/A突变引起Sp3转录起始位点后移33 bp,并且突变型的活性大约是野生型的3倍。研究结果表明,该突变可改变转录因子的转录起始位点,从而使EEF1D的表达上调。     

KCNQ2基因新发突变导致早发癫痫性脑病1例

为探讨KCNQ2基因突变与早发性癫痫脑病(EOEE)的关系,对收治的1例EOEE伴有KCNQ2基因突变患者的临床资料进行回顾性分析,并应用生物信息学软件对突变位点进行致病性分析.根据ACMG指南以及多种生物信息工具预测结果显示,KCNQ2基因新发错义突变(c.833T>C:p.I278T)可能是导致该患儿早发性癫痫脑病...     

航天搭载对辣椒SP1主要农艺性状的影响研究初报

研究了航天搭载对TO3、TO4、TO5辣椒自交系SP1代生物学性状的影响,结果表明太空辐射对TO4辣椒的影响最大,其主要性状都发生显著变化,TO3辣椒的开花期、株高、果径、单果重变化也很明显,而太空辐射对TO5辣椒的影响主要集中在果实性状方面。     

Frequent activation of c-kis as a transforming gene in fibrosarcomas induced by methylcholanthrene

The DNA's from two of four methylcholanthrene-induced mouse fibrosarcomas contained transforming genes that were identical in their pattern of restriction endonuclease resistance to inactivation of biologic activity. This transforming gene was identified as the activated homolog of the Kirsten murine sarcoma virus onc gene, v-kis. The finding that a defined carcinogen reproducibly leads to activation of kis as a transforming gene should be of value in elucidating the role of oncogenes in the neoplastic process.     

空间诱变水稻重要性状的遗传与变异

【目的】研究空间诱变水稻后代重要性状的遗传与变异情况,为水稻空间诱变育种提供借鉴。【方法】利用返回式卫星搭载籼型水稻单株纯系品种广恢998、HR15、特B、湛B、双青B和II-32B的干种子,以各品种地面种子为对照,在相同条件下种植后,考察其后代(SP1~SP4代)主要经济性状(粒长、粒宽、穗粒数、千粒质量、单株粒质量、结实率)和农艺性状(株高、剑叶长、剑叶宽、穗数、穗长)的表现及其遗传变异情况。【结果】6个空间诱变水稻品种SP1代的大多数性状与各自地面对照差异不明显;而SP2代的主要农艺性状和经济性状则出现了正、反2个方向的强烈分离变异,各品种突变株主要性状的极差和变异系数均值均远大于其对照,还出现了特大粒、特大穗等特殊突变体,变异类型极为丰富;SP3代的性状大体与SP2代相似,SP2代中的突变性状大多在SP3代中重现;至SP4代时,大部分变异性状已基本稳定。【结论】水稻干种子在空间条件下所产生的变异,能稳定地遗传给后代;空间诱变育种可以成为一种新的水稻诱变育种方法。