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| 1 | Generation of a Hutchinson-Gilford progeria syndrome monkey model by base editing显示文摘Many human genetic diseases,including Hutchinson-Gilford progeria syndrome(HGPS),are caused by single point mutations.HGPS is a rare disorder that causes premature aging and is usually caused by a de novo point mutation in the LMNA gene.Base editors(BEs)composed of a cytidine deaminase fused to CRISPR/Cas9 nickase are highly efficient at inducing C to T base conversions in a programmable manner and can be used to generate animal disease models with single amino-acid substitutions.Here,we generated the first HGPS monkey model by delivering a BE mRNA and guide RNA(gRNA)targeting the LMNA gene via microinjection into monkey zygotes.Five out of six newborn monkeys carried the mutation specifically at the target site.HGPS monkeys expressed the toxic form of lamin A,progerin,and recapitulated the typical HGPS phenotypes including growth retardation,bone alterations,and vascular abnormalities.Thus,this monkey model genetically and clinically mimics HGPS in humans,demonstrating that the BE system can efficiently and accurately generate patient-specific disease models in non-human primates. | Fang Wang Weiqi Zhang Qiaoyan Yang Yu Kang Yanling Fan Jingkuan Wei Zunpeng Liu Shaoxing Dai Hao Li Zifan Li Lizhu Xu Chu Chu Jing Qu Chenyang Si Weizhi Ji Guang-Hui Liu Chengzu Long Yuyu Niu | 2020 | Protein & Cell2020，11，11： | 11 |
| 2 | Comparative Genome Analysis of Scutellaria baicalensis and Scutellaria barbata Reveals the Evolution of Active Flavonoid Biosynthesis显示文摘Scutellaria baicalensis(S.baicalensis)and Scutellaria barbata(S.barbata)are common medicinal plants of the Lamiaceae family.Both produce specific flavonoid compounds,including baicalein,scutellarein,norwogonin,and wogonin,as well as their glycosides,which exhibit antioxidant and antitumor activities.Here,we report chromosome-level genome assemblies of S.baicalensis and S.barbata with quantitative chromosomal variation(2 n=18 and 2 n=26,respectively).The divergence of S.baicalensis and S.barbata occurred far earlier than previously reported,and a whole-genome duplication(WGD)event was identified.The insertion of long terminal repeat elements after speciation might be responsible for the observed chromosomal expansion and rearrangement.Comparative genome analysis of the congeneric species revealed the species-specific evolution of chrysin and apigenin biosynthetic genes,such as the S.baicalensis-specific tandem duplication of genes encoding phenylalanine ammonia lyase and chalcone synthase,and the S.barbata-specific duplication of genes encoding 4-Co A ligase.In addition,the paralogous duplication,colinearity,and expression diversity of CYP82 D subfamily members revealed the functional divergence of genes encoding flavone hydroxylase between S.baicalensis and S.barbata.Analyzing these Scutellaria genomes reveals the common and species-specific evolution of flavone biosynthetic genes.Thus,these findings would facilitate the development of molecular breeding and studies of biosynthesis and regulation of bioactive compounds. | Zhichao Xu Ranran Gao Xiangdong Pu Rong Xu Jiyong Wang Sihao Zheng Yan Zeng Jun Chen Chunnian He Jingyuan Song | 2020 | Genomics, Proteomics & Bioinformatics2020，18，3： | 10 |
| 3 | 基因组科学数据的安全管理与应用显示文摘基因组科学数据是人口健康和国家安全的重要战略资源,存好、管好和用好基因组科学数据具有重要意义。面对我国生物数据大量产出但因存储零散、缺乏系统监管而丢失和流失,以及严重依赖国际生物组学数据库的局面,亟须从国家层面建设我国自己的生物大数据管理体系。以国家基因组科学数据中心为例,阐述了基因组科学数据汇交共享体系和标准规范、数据安全管理机制,给出了数据挖掘与应用的典型案例,并从政策机制、基础设施、软件研发、学科建设、人才培养和国际合作等方面提出对策建议。 | 李茹姣 张欣 宋述慧 王彦青 邹东 肖景发 赵文明 章张 鲍一明 | 2022 | 大数据2022，8，1： | 5 |
| 4 | An online coronavirus analysis platform from the National Genomics Data Center显示文摘DEAR EDITOR,Since the first reported severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)infection in December 2019,coronavirus disease 2019(COVID-19)has become a global pandemic,spreading to more than 200 countries and regions worldwide.With continued research progress and virus detection,SARS-CoV-2 genomes and sequencing data have been reported and accumulated at an unprecedented rate. | Zheng Gong Jun-Wei Zhu Cui-Ping Li Shuai Jiang Li-Na Ma Bi-Xia Tang Dong Zou Mei-Li Chen Yu-Bin Sun Shu-Hui Song Zhang Zhang Jing-Fa Xiao Yong-Biao Xue Yi-Ming Bao Zheng-Lin Du Wen-Ming Zhao | 2020 | Zoological Research2020，41，6： | 5 |
| 5 | 人类基因数据资源管理研究显示文摘人类基因数据是破译人类遗传信息的重要科学数据。随着DNA测序技术的发展,人类基因数据量呈爆发式增长。研究和探讨人类基因数据资源的管理对于更好地共享利用数据资源具有重要的意义。本文阐述人类遗传资源的管理历程,分析人类基因数据现状以及国内外基因数据资源管理现状,对人类基因数据共享利用提出建议。 | 渠鸿竹 方向东 | 2021 | 中国科技资源导刊2021，53，1： | 2 |
| 6 | 我国人类基因数据库元数据规范的设计显示文摘以我国人类基因数据库建设需求为导向,参考国内外人类基因数据库的元数据,设计了我国人类基因数据库元数据规范,包括标识维度、关系维度、文献维度、内容维度和管理维度,旨在为我国人类基因数据的采集和储存提供技术规范的支撑。 | 刘一依 王世民 武琼 赵飞 胡建平 沈丽宁 | 2019 | 中华医学图书情报杂志2019，28，7： | 1 |
| 7 | microRNA调控膜系统及离子转运介导青稞盐碱胁迫的应答显示文摘盐碱胁迫是影响作物生长和生产的最严重的非生物胁迫之一。青稞作为青藏高原地区生长的裸大麦,对极端环境适应性强,其盐碱胁迫下microRNA(miRNA)调控机理的研究可为植物盐碱逆境胁迫应答提供重要的参考。本研究利用高通量测序技术,通过对盐碱胁迫及对照处理的青稞进行miRNA测序,挖掘青稞miRNA在盐碱环境下的调控网络。研究鉴定了13757个miRNAs,其中225个在普通大麦中也存在。miRNA靶基因的功能富集分析表明,盐碱胁迫响应miRNAs的潜在靶基因与膜系统及离子转运的生物学过程相关,表明膜系统的形成与离子转运对青稞的盐碱应答发挥着重要的作用。 | 王玉林 原红军 扎桑 杨春葆 徐齐君 | 2020 | 大麦与谷类科学2020，37，4： | 0 |
| 8 | Transcriptome Profiling of Flower Development Reveals Key Genes Mediating Yellow Formation in Tree Peony显示文摘Tree peony cultivars with yellow flowers are rare and valuable,but the molecular mechanism of pigment accumulation is not clear.In this study,the petal transcriptome of three developmental stages were sequenced to determine the differentially expressed genes(DEGs)regulating yellow flowers color.The results showed that 10,842 and 12,022 DEGs were screened in stage 1 vs.stage 2 and in stage 2 vs.stage 3,respectively.Through analysis of flavonoid structural genes(FSGs),we found that the transcription level of DFR was very low in the three developmental stages.In a small group of cultivars,the DFR transcription level of red flowers was 862 times higher than that of yellow flowers.These data suggested that the flavonoid pathway is interrupted in the later stage due to the low transcriptional level of DFR,which limits the biosynthesis of anthocyanins in yellow flowers.The transcription levels of F3’H and FLS were upregulated from stage 1 to stage 2,while those of CHI and FLS were downregulated from stage 2 to stage 3.In addition,67 MYBs and 44 bHLHs showed similar transcription profiles with different members of FSGs.The results deepen our understanding of the molecular mechanism of yellow pigment accumulation in tree peony. | Yanzhao Zhang Chenyang Yu Xi Lu Yanwei Cheng | 2022 | Phyton-International Journal of Experimental Botany2022，91，11： | 0 |
| 9 | 结核分枝杆菌全基因组测序数据分析方法与应用进展显示文摘全基因组测序技术已经广泛应用于结核分枝杆菌的研究中,包括谱系鉴定、微进化、耐药预测、传播监测、混合感染诊断等多方面。生物信息学在基因组学研究中贯穿了从数据处理、分析到可视化的各个阶段,对全基因组测序技术的应用起到了至关重要的作用。笔者主要介绍和归纳了目前在结核分枝杆菌全基因组测序中常用的主流生物信息学分析软件和平台,并对近年来新开发的生物信息学分析方法从可用性、软件选择及应用等方面进行概述,为同领域研究者更方便、更灵活地开展数据分析和快速选择研究分析工具提供参考。 | 李相辰 柳正卫 陆烨玮 朱业蕾 张明五 蒋锦琴 彭小军 王炜欣 高俊顺 王晓萌 | 2022 | 中国防痨杂志2022，44，11： | 0 |
| 10 | 基于RNA测序分析热应激奶牛乳腺组织中miRNA在乳蛋白合成调控中的潜在作用显示文摘本研究旨在评估热应激奶牛乳腺组织中差异表达miRNA及其在乳蛋白合成调控中的潜在作用。选取4头泌乳日龄、体重、产奶量相近的经产健康荷斯坦奶牛作为试验动物。采用2×2交叉设计,试验分2期,每期包含预试期和试验期各9 d,2期之间间隔30 d。试验在大家畜人工环境控制舱内进行。预试期为热中性环境,自由采食。试验期奶牛随机分为2组,分别为热应激组(HS组,n=4)和配对限饲组(PFTN组,n=4)。结果表明:1)16个miRNA在HS组和PFTN组奶牛乳腺组织中差异表达(Padj<0.05)。2)差异表达的miRNA中bta-miR-451可能参与了能量代谢的调控,bta-miR-184、bta-miR-218和bta-miR-493可能参与了细胞增殖的调控,bta-miR-132可能参与了炎症反应的调控,而bta-miR-382与乳腺组织中mRNA表达调控可能存在协同作用。由此可见,热应激奶牛乳腺组织中miRNA可能参与了能量代谢、细胞增殖和炎症反应的调控,为进一步验证miRNA在热应激诱导的乳蛋白合成减少过程中的作用提供了科学依据。 | 高胜涛 马露 卜登攀 | 2021 | 动物营养学报2021，33，12： | 0 |
| 11 | Landscape of genomic imprinting and its functions in the mouse mammary gland显示文摘Genomic imprinting is an epigenetic modification of DNA,whereby gene expression is restricted to either maternally or paternally inherited alleles.Imprinted genes(IGs)in the placenta and embryo are essential for growth regulation and nutrient supply.However,despite being an important nutrition delivery organ,studies on mammary gland genomic imprinting remain limited.In this study,we found that both the number of IGs and their expression levels decreased during development of the mouse mammary gland.IG expression was lineage-specific and related to mammary gland development and lactation.Meta-analysis of single-cell RNA sequencing data revealed that mammary gland IGs were co-expressed in a network that regulated cell sternness and differentiation,which was confirmed by our functional studies.Accordingly,our data indicated that IGs were essential for the self-renewal of mammary gland stem cells and IG decline was correlated with mammary gland maturity.Taken together,our findings revealed the importance of IGs in a poorly studied nutrition-related organ,i.e.the mammary gland,thus providing a reference for further studies on genomic imprinting. | Haibo Xu Lina Zhao Xu Feng Yujie Ma Wei Chen Li Zou Qin Yang Jihong Sun Hong Yu Baowei Jiao | 2020 | Journal of Molecular Cell Biology2020，12，11： | 0 |
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