玉屏风颗粒联合西咪替丁对过敏性紫癜患儿临床疗效及外周血免疫学指标的影响

目的:探讨玉屏风颗粒联合西咪替丁对过敏性紫癜患儿临床疗效及外周血免疫学指标的影响。方法:选取2017年1月至2019年12月我院68例过敏性紫癜患儿为研究对象,根据随机化原则将受试儿进行分组,其中对照组34例患儿仅接受西咪替丁治疗,研究组45例患儿在对照组的基础上口服玉屏风颗粒治疗,比较两组的治疗效果、治疗前后外周血免疫学指标水平变化及用药安全性。结果:研究组临床治疗总有效率显著高于对照组(P<0.05),治疗前两组各免疫学指标及各炎性因子水平比较无统计学差异(P>0.05),治疗后两组各免疫学指标及各炎性因子水平较治疗前均明显降低,且研究组显著低于对照组(P<0.05),两组治疗期间不良反应发生率无差异(P>0.05)。结论:玉屏风颗粒联合西咪替丁可有效改善患儿的临床症状及外周血免疫学指标,疗效安全显著,值得在过敏性紫癜患儿治疗中应用及推广。     

Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes

Neurodevelopmental disorders(NDDs) are a set of complex disorders characterized by diverse and cooccurring clinical symptoms. The genetic contribution in patients with NDDs remains largely unknown.Here, we sequence 519 NDD-related genes in 3,195 Chinese probands with neurodevelopmental phenotypes and identify 2,522 putative functional mutations consisting of 137 de novo mutations(DNMs) in 86 genes and 2,385 rare inherited mutations(RIMs) with 22 X-linked hemizygotes in 13 genes, 2 homozygous mutations in 2 genes and 23 compound heterozygous mutations in 10 genes. Furthermore, the DNMs of16,807 probands with NDDs are retrieved from public datasets and combine in an integrated analysis with the mutation data of our Chinese NDD probands by taking 3,582 in-house controls of Chinese origin as background. We prioritize 26 novel candidate genes. Notably, six of these genes d ITSN1, UBR3, CADM1,RYR3, FLNA, and PLXNA3 d preferably contribute to autism spectrum disorders(ASDs), as demonstrated by high co-expression and/or interaction with ASD genes confirmed via rescue experiments in a mouse model. Importantly, these genes are differentially expressed in the ASD cortex in a significant manner and involved in ASD-associated networks. Together, our study expands the genetic spectrum of Chinese NDDs,further facilitating both basic and translational research.     

Genomes of 12 fig wasps provide insights into the adaptation of pollinators to fig syconia

Figs and fig pollinators are one of the few classic textbook examples of obligate pollination mutualism. The specific dependence of fig pollinators on the relatively safe living environment with sufficient food sources in the enclosed fig syconia implies that they are vulnerable to habitat changes. However, there is still no extensive genomic evidence to reveal the evolutionary footprint of this long-term mutually beneficial symbiosis in fig pollinators. In fig syconia, there are also non-pollinator species. The non-pollinator species differ in their evolutionary and life histories from pollinators. We conducted comparative analyses on 11 newly sequenced fig wasp genomes and one previously published genome. The pollinators colonized the figs approximately 66.9 million years ago, consistent with the origin of host figs. Compared with nonpollinators, many more genes in pollinators were subject to relaxed selection. Seven genes were absent in pollinators in response to environmental stress and immune activation. Pollinators had more streamlined gene repertoires in the innate immune system, chemosensory toolbox, and detoxification system. Our results provide genomic evidence for the differentiation between pollinators and nonpollinators. The data suggest that owing to the long-term adaptation to the fig, some genes related to functions no longer required are absent in pollinators.     

Leptin gene-targeted editing in ob/ob mouse adipose tissue based on the CRISPR/Cas9 system

Gene therapy has become the most effective treatment for monogenic diseases. Congenital LEPTIN deficiency is a rare autosomal recessive monogenic obesity syndrome caused by mutations in the Leptin gene. Ob/ob mouse is a monogenic obesity model, which carries a homozygous point mutation of C to T in Exon 2 of the Leptin gene. Here, we attempted to edit the mutated Leptin gene in ob/ob mice preadipocytes and inguinal adipose tissues using CRISPR/Cas9 to correct the C to T mutation and restore the production of LEPTIN protein by adipocytes. The edited preadipocytes exhibit a correction of 5.5% of Leptin alleles and produce normal LEPTIN protein when differentiated into mature adipocytes. The ob/ob mice display correction of 1.67% of Leptin alleles, which is sufficient to restore the production and physiological functions of LEPTIN protein, such as suppressing appetite and alleviating insulin resistance. Our study suggests CRISPR/Cas9-mediated in situ genome editing as a feasible therapeutic strategy for human monogenic diseases, and paves the way for further research on efficient delivery system in potential future clinical application.     

访花昆虫野蚜蝇线粒体基因组结构分析

野蚜蝇Syrphus torvus(Osten-Sacken)成虫具访花习性,是重要的传粉昆虫;幼虫捕食蚜虫,是蚜虫重要天敌之一.本研究通过高通量测序、组装拼接获得了完整的野蚜蝇线粒体基因组全序列(GenBank登录号:MW074962),其序列全长为16 444 bp,包含13个蛋白编码基因(PCGs)、22个tRNAs、2个rRNAs和D-loop区.野蚜蝇线粒体全序列A+T含量为80.6％,G+C含量为19.4％,表现出明显的A+T偏斜.除了 COXI、ATP8、ATP6和ND1的起始密码子为TTG,其它9个PCGs以ATN为起始密码子;COXI的终止密码子为不完整的T--,ATP6为TAG,其余11个PCGs的终止子为TAA.22个tRNAs的二级结构均为典型的三叶草结构,并预测了野蚜蝇rRNAs的二级结构.野蚜蝇D-loop区存在重复序列和茎环结构,22种蚜蝇科基因间隔区与重叠区具有6个保守区域.基于24个物种(22个蚜蝇科和2个缟蝇科)的PCGs序列,通过贝叶斯法(BI)和最大似然法(ML)构建系统发育树,结果显示,野蚜蝇和黑足蚜蝇Syrphus vitripennis互为姊妹种,支持了蚜蝇亚科Syrphinae的单系性,两种拓扑结构中管蚜蝇亚科Eristalinae均没有聚为一支.该研究结果丰富了蚜蝇科线粒体基因组学基本数据,为进一步深化蚜蝇科系统发育关系讨论提供了参考.     

Morphology and Genetic Diversity of Phragmites australis in Beijing

为探明北京地区芦苇(Phragmites australis)的资源状态和多样性, 实地考察北京主要河流、湿地和水库, 发现北京地区芦苇总生长面积已超过600 hm²。芦苇染色体倍性以八倍体为主, 四倍体次之。在面积较大的湿地内, 八倍体单一芦苇群落占据优势地位; 而在城市的浅河内有形态和遗传性多样的混合种群。研究表明, 植物性状和倍性水平之间无显著相关性。在小清河发现了6种形态各异的芦苇克隆, 均属于叶绿体DNA片段的P单倍型; 其单倍体基因组大小为(0.499±0.019) pg, 变异系数为3.8%。这表明表型与单倍型之间也不具相关性。此外, 发现1个具有变叶特性的芦苇, 将其命名为金条芦苇。北京地区芦苇形态和遗传多样性为研究芦苇基因型与环境适应性之间的关系提供了珍贵的资源。     

牦牛miR-383的靶基因预测及生物信息学分析

MicroRNAs (miRNAs)是一类非编码的小分子单链RNA,通过与靶基因的mRNA结合,抑制mRNA的翻译,参与多种生物学过程.本实验室前期通过高通量测序发现90日龄牦牛胚胎的背最长肌中miR-383的表达量显著高于成年牦牛.为探究miR-383在牦牛骨骼肌发育中的分子功能和机制,本研究对miR-383的靶基因进行预测,并进行生物信息学分析.通过TargetScan、miRDB和miRanda 3个软件预测了miR-383的靶基因,然后合并miRTarbase数据库中已被证实的靶基因作为基因集,分别用DAVID和KOBAS3.0在线软件对基因集进行功能注释(GO分析)和Pathway信号通路富集分析.结果 表明,牦牛miR-383序列在各物种间高度保守,靶基因功能富集于CD8阳性T细胞增殖的调控、核糖核蛋白复合物定位和负调控T细胞分化等生物学过程.信号通路分析发现靶基因的信号通路显著富集于PI3K-Ak、AMPK、FoxO和Focal adhesion等与肌肉发育相关的信号通路中.该研究结果将为miR-383功能及调控机制的深入研究提供参考依据,也为解析牦牛肌肉发育的分子机制提供新的研究方向.     

文冠果性别分化关键期花芽转录组分析

为探究文冠果(Xanthoceras sorbifolium Bunge)性别分化过程的分子机制,本研究对其性别分化关键期花芽进行RNA-seq分析.结果 共获得37.13 Gb原始数据,de novo组装后共产生29430条Unigenes,平均长度1144 bp,其中21887条Unigenes获得功能注释.此外,共得到差异基因4864个,其中相对于性别分化前期(Ta)差异上调基因3003个,差异下调基因1861个.GO富集分析显示,差异基因主要注释到代谢进程、植物激素信号转导、生长素激活的信号通路等功能.KEGG富集分析显示,差异基因主要注释到植物激素信号转导、淀粉和蔗糖代谢等生物功能.还筛选出6个MADS-box相关基因(TR576|c0_g1,TR7438|c0_g1,TR10037|c1_g10,TR13325|c0_g1,TR 6316|c0_g1,TR5807|c0_ g1),参与雄蕊发育、花粉管生长、花发育调节、花瓣发育、胚珠发育、转录因子活性等过程调节.RT-qPCR检测了16个基因在两个时期的表达量,结果均与RNA-seq一致.研究结果将为进行文冠果性别分化过程中基因表达分析提供参考.     

A botanical medicine dragon’s blood exhibited clinical antithrombosis efficacy similar to low molecular weight heparin

Deep vein thrombosis(DVT) is a common complication following traumatic fracture with a 0.5%–1% annual incidence. Low molecular weight heparin(LMWH) is the most commonly used anticoagulation drug for DVT prevention, but treatment with LMWH is invasive. Our aim is to compare the antithrombotic effect of dragon's blood, an oral botanical anticoagulant medicine approved by the Chinese FDA, with LMWH in patients undergoing hip fracture surgery and to explore the molecular mechanisms of anticoagulation treatment. Our study recruited patients and divided them into LMWH and dragon's blood treatment group. Coagulation index tests, Doppler ultrasound and m RNA sequencing were performed before and after anticoagulation therapy. There was no significant difference in postoperative DVT incidence between the two groups(23.1% versus 15.4%,P=0.694). D-dimer(D-D) and fibrinogen degradation product(FDP) showed significant reductions in both groups after anticoagulation treatments. We identified SLC4 A1, PROS1, PRKAR2 B and seven other genes as being differentially expressed during anticoagulation therapy in both groups. Genes correlated with coagulation indexes were also identified. Dragon's blood and LMWH showed similar effects on DVT and produced similar gene expression changes in patients undergoing hip fracture surgery, indicating that dragon's blood is a more convenient antithrombosis medicine(oral) than LMWH(hypodermic injection).     

Responses of soil labile organic carbon and water-stable aggregates to reforestation in southern subtropical China

中国南亚热带土壤易分解有机碳和水稳性团聚体对造林的响应 造林被认为可以提高土壤碳稳定性并促进土壤碳累积。然而,实验结果差异很大,造林在提高土壤碳稳定性方面的作用仍存在争议。因此,在森林生态系统中不同土壤碳库对造林如何响应目前尚不清楚。基于此,本文对亚热带地区的尾叶桉林(Eucalyptus urophylla)、厚荚相思林(Acacia crassicarpa)、 红锥林(Castanopsis hystrix)、10树种混交林和自然恢复草坡等5种不同林型的土壤碳组分进行了研究,评估其不同土层(0–10、10–20、20–40 和40–60 cm)中的土壤易分解有机碳(容易被高锰酸钾氧化的有机碳ROC和土壤可溶性有机碳DOC)及土壤团聚体相关的碳对造林的响应。实验结果表明,造林(与自然恢复草坡比较)和林型并没有显著影响土壤ROC浓度,而自然恢复草坡土壤的DOC浓度在4个土层中均最高。0–10 cm土层中各径级的土壤团聚体其碳(C)浓度均是红锥林最高。此外,在任一土层中,林型对不同径级土壤水稳性团聚体比例的影响均不显著。但是土壤深度显著改变土壤团聚体的分布,0–20 cm土层主要为>0.25 mm粒径的团聚体,20–60 cm土层则是0.053–2 mm粒径的团聚体占主导。这些结果显示造林和林型影响土壤DOC 和团聚体C,而且它们相比于ROC对造林的响应更为敏感。研究发现,与自然恢复相比,人工林降低了土壤DOC浓度,暗示它可能会减少土壤C的淋溶损失。此外,红锥林能够通过物理保护提高表土层中土壤碳的稳定性。本研究为关注土壤碳汇功能时的中国南亚热带地区造林树种选择提供了有价值的信息。