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A genome wide association study between copy number variation (CNV) and human height in Chinese population

Journal of Genetics and Genomics 2010年第12期37卷 779-785页

作者： Xi Li Lijun Tan Xiaogang Liu Shufeng Lei Tielin Yang Xiangding Chen Fang Zhang Yue Fang Yan Guo Liang Zhang Han Yan Feng pan Zhixin Zhang Yumei Peng Qi Zhou Lina He Xuezhen Zhu Jing Cheng Lishu Zhang Yaozhong Liu Qing Tian Hongwen Deng Laboratory of Molecular and Statistical Genetics College of Life Sciences Hunan Normal University Changsha 410081 China The Key Laboratory of Biomedical Information Engineering of Ministry of Education and Institute of Molecular Genetics School of Life Science and Technology Xi'an Jiaotong University Xi'an 710049 China National Engineering Research Center for beijing Biochip Technology Beijing 102206 China department of Basic Medical Science and Orthopedic Surgery School of Medicine University of Missouri - Kansas City Kansas City MO 64108 USA College of Life sciences and Bioengineering Beijing Jiaotong University Beijing 100044 China

Copy number variation （CNV） is a type of genetic variation which may have important roles in phenotypic variability and disease susceptibility. To hunt for genetic variants underlying human height variation, we performed a genome wide CNV association study for human height in 618 Chinese unrelated subjects using Affymetrix 500K array set. After adjusting for age and sex, we found that four CNVs at 6p21.3, 8p23.3-23.2, 9p23 and 16p12.1 were associated with human height （with borderline significant p value： 0.013, 0.011, 0.024, 0.049; respectively）. However, after multiple tests correction, none of them was associated with human height. We observed that the gain of copy number （more than 2 copies） at 8p23.3-23.2 was associated with lower height （normal copy number vs. gain of copy number： 161.2 cm vs. 153.7 cm, p = 0.011）, which accounted for 0.9% of height variation. Loss of copy number （less than 2 copies） at 6p21.3 was associated with 0.8% lower height （loss of copy number vs. normal copy number： 154.5 cm vs. 161.1 cm, p = 0.013）. Since no important genes influencing height located in CNVs at loci of 8p23.3-23.2 and 6p21.3, the two CNVs may cause the structural rear- rangements of neighbored important candidate genes, thus regulates the variation of height. Our results expand our knowledge of the genetic factors underlying height variation and the biological regulation of human height.

关键词： CNV human height GWAS Affymetrix 500K array

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Climate extremes and ozone pollution:a growing threat to china’s food security

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Ecosystem Health and Sustainability 2016年第1期2卷 2-11页

作者： Hanqin Tian Wei Ren Bo Tao Ge Sun Art Chappelka Xiaoke Wang Shufen pan Jia Yang Jiyuan Liu Ben SFelzer Jerry MMelillo John Reilly International Center for Climate and Global Change Research School of Forestry and Wildlife SciencesAuburn UniversityAuburnAlabama 36849 USA department of Plant and Soil sciences College of AgricultureFood and EnvironmentUniversity of KentuckyLexingtonKentucky 40506 USA Eastern Forest Environmental Threat Assessment Center USDA Forest ServiceRaleighNorth CarolinaUSA State Key Lab of Urban and Regional Ecology Research Center for Eco-Environmental SciencesChinese Academy of SciencesBeijing 100085 China Institute of Geographical sciences and Natural Resources Research Chinese Academy of SciencesBeijing 100101 China department of Earth and Environmental sciences Lehigh University1 W.Packer DriveBethlehemPennsylvania 18015-3188 USA The Ecosystem Center Marine Biological LaboratoryWoods HoleMassachusetts 02543 USA Joint Program on Science and Policy of Global Change Massachusetts Institute of Technology77 Massachusetts AvenueCambridgeMassachusetts 02139 USA

Ensuring global food security requires a sound understanding of climate and environmental controls on crop *** majority of existing assessments have focused on physical climate vari-ables(i.e.,mean temperature and precipitation),but less on the increasing climate extremes(e.g.,drought)and their interactions with increasing levels of tropospheric ozone(O3).Here we quantify the combined impacts of drought and O3 on china’s crop yield using a comprehensive,process-based agricultural eco-system model in conjunction with observational *** results indicate that climate change/variability and O3 together led to an annual mean reduction of crop yield by 10.0%or 55 million tons per year at the national level during *** yield shows a growing threat from severe episodic droughts and in-creasing O3 concentrations since 2000,with the largest crop yield losses occurring in northern china,causing serious concerns in food supply security in *** results imply that reducing tropospheric O3 levels is critical for securing crop production in coping with increasing frequency and severity of extreme climate events such as *** air quality should be a core component of climate adaptation strategies.

关键词： china food security climate change crop yield drought tropospheric ozone(O3).

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Modes of genetic adaptations underlying functional innovations in the rumen

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Science china(Life sciences) 2021年第1期64卷 1-21页

作者： Xiangyu pan Yudong Cai Zongjun Li Xianqing Chen Rasmus Heller Nini Wang Yu Wang Chen Zhao Yong Wang Han Xu Songhai Li Ming Li Cunyuan Li Shengwei Hu Hui Li Kun Wang Lei Chen Bin Wei Zhuqing Zheng Weiwei Fu Yue Yang Tingting Zhang Zhuoting Hou Yueyang Yan Xiaoyang Lv Wei Sun Xinyu Li Shisheng Huang Lixiang Liu Shengyong Mao Wenqing Liu Jinlian Hua Zhipeng Li Guojie Zhang Yulin Chen Xihong Wang Qiang Qiu Brian PDalrymple Wen Wang Yu Jiang Key Laboratory of Animal Genetics Breeding and Reproduction of Shaanxi ProvinceCollege of Animal Science and TechnologyNorthwest A&F UniversityYangling712100China School of Ecology and Environment Northwestern Polytechnical UniversityXi’an710072China Section for Computational and RNA Biology Department of BiologyUniversity of CopenhagenCopenhagenDK-2100Denmark university of Chinese Academy of sciences Beijing100049China Center for Excellence in Animal Evolution and Genetics Chinese Academy of SciencesKunming650223China CEMS NCMISMDISAcademy of Mathematics and Systems ScienceChinese Academy of SciencesBeijing100080China Marine Mammal and Marine Bioacoustics Laboratory Institute of Deep-sea Science and EngineeringChinese Academy of SciencesSanya572000China College of Life sciences Shihezi UniversityShihezi832003China State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources College of Animal Science and TechnologyGuangxi UniversityNanning530005China College of Animal Science and Technology Yangzhou UniversityYangzhou225009China Joint International Research Laboratory of Agriculture and Agri-Product Safety of Ministry of Education of china Yangzhou UniversityYangzhou225009China Key Laboratory for Major Obstetric Diseases of Guangdong Province The Third Affiliated Hospital of Guangzhou Medical UniversityGuangzhou510150China School of Life Science and Technology Shanghai Tech UniversityShanghai201210China College of Animal Science and Technology Nanjing Agricultural UniversityNanjing210095China College of Veterinary Medicine Shaanxi Centre of Stem Cells Engineering&TechnologyNorthwest A&F UniversityYangling712100China department of Special Economic Animal Nutrition and Feed Science Institute of Special Animal and Plant SciencesChinese Academy of Agricultural SciencesChangchun130112China Section for Ecology and Evolution Department of BiologyUniversity of CopenhagenCopenhagenDK-2100Denmark china National GeneBank BGI-ShenzhenShen

The rumen is the hallmark organ of ruminants and hosts a diverse ecosystem of microorganisms that facilitates efficient digestion of plant *** analyzed 897 transcriptomes from three Cetartiodactyla lineages:ruminants,camels and cetaceans,as well as data from ruminant comparative genomics and functional assays to explore the genetic basis of rumen functional *** identified genes with relatively high expression in the rumen,of which many appeared to be recruited from other *** genes show functional enrichment in ketone body metabolism,regulation of microbial community,and epithelium absorption,which are the most prominent biological processes involved in rumen *** modes of genetic change underlying rumen functional innovations were uncovered,including coding mutations,genes newly evolved,and changes of regulatory *** validated that the key ketogenesis rate-limiting gene(HMGCS2)with five ruminant-specific mutations was under positive selection and exhibits higher synthesis activity than those of other *** newly evolved genes(LYZ1 and DEFB1)are resistant to Gram-positive bacteria and thereby may regulate microbial community ***,we confirmed that the changes of regulatory elements accounted for the majority of rumen gene *** results greatly improve our understanding of rumen evolution and organ evo-devo in general.

关键词： rumen innovations comparative transcriptomics comparative genomics evo-devo evolution of organs

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镁同位素示踪表生地质过程的原理及应用

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矿物岩石地球化学通报 2022年第2期41卷 213-234页

作者：黄康俊滕方振沈冰马龙张宏宇张攀王琦大陆动力学国家重点实验室陕西省早期生命与环境重点实验室西北大学地质学系西安710069 华盛顿大学地球与空间科学系美国西雅图98195 造山带与地壳演化教育部重点实验室北京大学地球与空间科学学院北京100871

镁(Mg)是流体活动性元素及生物必需元素,广泛参与地球表层圈层所涉及的物理、化学和生物过程。最近二十年发展起来的镁稳定同位素技术为研究表生地质过程中Mg的迁移转化过程,以及相应的生态环境效应提供了新的视野。利用镁同位素在全球... 详细信息

镁(Mg)是流体活动性元素及生物必需元素,广泛参与地球表层圈层所涉及的物理、化学和生物过程。最近二十年发展起来的镁稳定同位素技术为研究表生地质过程中Mg的迁移转化过程,以及相应的生态环境效应提供了新的视野。利用镁同位素在全球物质迁移与循环过程中的同位素分馏效应来示踪表生地球化学过程,对于理解生物地球化学循环、全球碳循环和气候变化等具有重要的科学意义。本文系统介绍了镁同位素分析测试技术、表生地质过程镁同位素分馏机理、镁同位素示踪表生地质过程的研究进展及其存在的问题,并对其潜在的发展方向进行了展望,以期对镁同位素体系的未来研究提供借鉴。

关键词：镁同位素非传统稳定同位素大陆风化碳循环地球宜居性

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基于光敏性胸腺嘧啶脱氧核苷亚膦酰胺单体的光响应DNA水凝胶

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高分子学报 2021年第8期52卷 996-1005,I0004页

作者：杨勃孙立梅潘玙璠董原辰孙亚伟刘冬生生命有机磷化学及化学生物学教育部重点实验室清华大学化学系北京100084 中国石油大学(华东)化学工程学院青岛258000 中国科学院化学研究所北京100190

设计并合成了一种1-(4,5-二甲氧基-2-硝基苄基)乙氧基光敏基团保护的胸腺嘧啶脱氧核苷亚膦酰胺单体,将其通过固相合成引入到DNA序列中,可以实现对DNA链互补配对的光学调控;并进一步利用该单体合成了功能性的核酸序列,成功制备了快速光... 详细信息

设计并合成了一种1-(4,5-二甲氧基-2-硝基苄基)乙氧基光敏基团保护的胸腺嘧啶脱氧核苷亚膦酰胺单体,将其通过固相合成引入到DNA序列中,可以实现对DNA链互补配对的光学调控;并进一步利用该单体合成了功能性的核酸序列,成功制备了快速光响应的DNA超分子水凝胶.该结果拓展了DNA单体的多样性,为构建新型光响应功能体系提供了新途径.

关键词：碱基光保护光响应 DNA自组装 DNA超分子水凝胶

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Consensus of clinical diagnosis and treatment for non-functional pancreatic neuroendocrine neoplasms with diameter<2 cm

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Journal of pancreatology 2023年第3期6卷 87-95页

作者： Wu Wenming Cai Shouwang Chen Rufu Fu Deliang Ge Chunlin Hao Chunyi Hao Jihui Huang Heguang Jian Zhixiang Jin Gang Li Fei Li Haimin Li Shengping Li Weiqin LiYixiong Liang Tingbo Liu Xubao Lou Wenhui Miao Yi Mou Yiping Peng Chenghong Qin Renyi Shao Chenghao Sun Bei Tan Guang Wang Huaizhi Wang Lei Wang Wei Wang Weilin Wei junmin Wu Heshui Wu Zheng Yan Changqing Yang Yinmo Yin Xiaoyu Yu Xianjun Yuan Chunhui Zhao Yupei department of General Surgery State Key Laboratory of Complex Severe and Rare DiseasesPeking Union Medical College HospitalChinese Academy of Medical Science and Peking Union Medical CollegeBeijing 100730China department of Hepatobiliary Surgery PLA General HospitalBeijing 100853China department of General Surgery Guangdong Provincial People’s HospitalGuangdong Academy of Medical SciencesGuangzhou 510080China department of pancreatic Surgery Huashan HospitalShanghai Medical CollegeFudan UniversityShanghai 200040China department of Hepatobiliary and pancreatic Surgery Hunnan Division of The First Hospital of China Medical UniversityShenyang 110167China department of Hepato-pancreato-Biliary Surgery Peking University Cancer Hospital&InstituteBeijing 100142China department of pancreatic Cancer Tianjin Medical University Cancer Institute and HospitalTianjin 300060China department of General Surgery Fujian Medical University Union HospitalFuzhou 350001China department of General Surgery Guangdong Provincial People’s HospitalGuangdong Academy of Medical SciencesGuangzhou 510000China department of Hepatobiliary pancreatic Surgery Changhai Hospital Affiliated to Navy Medical University(Second Military Medical University)Shanghai 200433China department of General Surgery Xuanwu HospitalCapital Medical UniversityBeijing 100053China department of Hepatobiliary Surgery Xijing HospitalFourth Military Medical UniversityXi’an 710032China department of Hepatobiliary and pancreatic Surgery Sun Yat-Sen University Cancer CenterState Key Laboratory of Oncology in South ChinaCollaborative Innovation Center for Cancer MedicineGuangzhou 510060China department of Critical Care Medicine Jinling HospitalMedical School of Nanjing UniversityNanjing 210002China department of General Surgery Xiangya HospitalCentral South UniversityChangsha 410008China department of Hepatobiliary and pancreatic Surgery the First Affiliated HospitalZhejiang University School of MedicineHangzhou 310003China department

In clinical practice,pancreatic neuroendocrine neoplasms(pNENs)with a diameter smaller than 2 cm are commonly referred to as small *** to their generally favorable biological characteristics,the diagnosis and treatment of small pNENs differ from other pNENs and are somewhat *** response to this,the Chinese pancreatic Surgery Association,Chinese Society of Surgery,Chinese Medical Association have developed a consensus on the diagnosis and treatment of small pNENs,which is based on evidence-based medicine and expert *** consensus covers various topics,including concepts,disease assessment,treatment selection,follow-up,and other relevant aspects.

关键词： 2 cm Clinical diagnosis Non-functional pancreatic neuroendocrine neoplasms Treatment

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泛知情同意概念在我国的引入与实践思考

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中华医院管理杂志 2022年第3期38卷 222-224页

作者：彭华袁达黄鹂潘慧岳靓姜海琳韩丁中国医学科学院北京协和医院北京100730 北京市华卫律师事务所北京100034 北京中医药大学人文学院法律系北京100029

近年来国外正在逐步推行泛知情同意来提升医疗数据和生物样本的利用率,但泛知情同意可能面临着告知不完善而影响受试者权利等伦理问题。国外对于泛知情同意已有相关规定和实践。我国法律并未明确泛知情同意的概念,目前在实践中生物样本... 详细信息

近年来国外正在逐步推行泛知情同意来提升医疗数据和生物样本的利用率,但泛知情同意可能面临着告知不完善而影响受试者权利等伦理问题。国外对于泛知情同意已有相关规定和实践。我国法律并未明确泛知情同意的概念,目前在实践中生物样本的处理大致可分为4类,存在泛知情同意的潜在适用空间。应明确泛知情同意的具体范围,与捐献行为作出区分,在保障受试者权利的基础上探索实施泛知情同意。

关键词：知情同意泛知情同意临床试验生物标本库患者权利隐私权

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中国苏铁属植物资源和保护

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生物多样性 2022年第7期30卷 69-81页

作者：席辉辉王祎晴潘跃芝许恬湛青青刘健冯秀彦龚洵中国科学院昆明植物研究所资源植物与生物技术实验室昆明650201 中国科学院大学北京100049 南宁植物园(南宁青秀山风景名胜区旅游开发有限公司) 南宁530029 中国科学院华南植物园园艺中心引种保育部广州510650

苏铁类植物含2科10属,是现存种子植物最原始的类群之一,具有重要的科学研究和保护价值。苏铁属(Cycas)是唯一在中国有自然分布的苏铁类植物,约20种,多数种类为中国特有。中国的苏铁属植物主要分布于西南地区和东南沿海,大部分种类为狭... 详细信息

苏铁类植物含2科10属,是现存种子植物最原始的类群之一,具有重要的科学研究和保护价值。苏铁属(Cycas)是唯一在中国有自然分布的苏铁类植物,约20种,多数种类为中国特有。中国的苏铁属植物主要分布于西南地区和东南沿海,大部分种类为狭域分布的类群,其生存繁衍受到了严重的威胁,均被列为国家一级重点保护野生植物。基于文献资料收集整理和野外调查,本文对中国苏铁属植物的研究和保护进行了阶段性总结。介绍了中国苏铁属植物分类研究、地理分布;阐述了中国苏铁植物生存面临的主要威胁及相应的保护措施,提出了保护方案的制定应遵循遗传学特征等科学依据。文中总结了我国苏铁植物保护科研工作中存在的5个主要问题:(1)苏铁植物基础科学问题有待进一步研究,(2)苏铁植物生境破坏较为严重,(3)人为盗采贩卖依然猖獗而苏铁植物园林园艺育种事业却举步不前,(4)苏铁自身生物学特性导致繁殖困难,(5)迁地保护难以保证苏铁种质“纯洁性”等,同时针对这些问题提出相应建议,以期为我国苏铁属植物的研究、保护以及可持续利用工作提供参考。

关键词：苏铁属多样性保护成效和保护建议物种与分布

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Differential regulation of clathrin and its adaptor proteins, AP-2 and the TPLATE complex, during their membrane recruitment in Arabidopsis

Differential regulation of clathrin and its adaptor proteins...

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2016年全国植物生物学大会

作者： Chao Wang Tianwei Hu Xu Yan Tingting Meng Yutong Wang Qingmei Wang Xiaoyue Zhang Ying Gu Clara Sánchez-Rodríguez Astrid Gadeyne Jinxing Lin Staffan Persson Dani?l Van Damme Chuanyou Li Sebastian Y.Bednarek Jianwei pan College of Chemistry and Life sciences Zhejiang Normal University Institute of Genetics and Developmental Biology Chinese Academy of Sciences department of Biochemistry and Molecular Biology Pennsylvania State UniversityUniversity Park department of Biology Institute of Agricultural SciencesETH Zurich department of Plant Systems Biology VIBDepartment of Plant Biotechnology and BioinformaticsGhent University College of biological sciences and biotechnology Beijing Forestry University

In plants,clathrin-mediated endocytosis(CME) is dependent on the function of clathrin and its accessory heterooligomeric adaptor protein complexes,Adaptor Protein 2(AP-2) and the TPLATE complex(TPC),and is negatively regulated by the hormones auxin and salicylic acid(SA). The details for how clathrin and its adaptor complexes are recruited to the plasma membrane(PM) to regulate CME are however poorly understood. We found that SA and the pharmacological CME inhibitor tyrphostin A23(Tyr A23) reduce the membrane association of clathrin and AP-2,but not that of the TPC,whereas auxin solely affected clathrin membrane association,in Arabidopsis thaliana. Genetic and pharmacological experiments revealed that loss of AP2μ or AP2σ partially affected the membrane association of other AP-2 subunits and that the AP-2 subunit AP2σ,but not AP2μ,was required for SA-and Tyr A23-dependent inhibition of CME. Furthermore,we show that although AP-2 and the TPC are both required for the PM recruitment of clathrin in wild-type cells,the TPC is necessary for clathrin PM association in AP-2 deficient cells. These results indicate that developmental signals may differentially modulate the membrane recruitment of clathrin and its core accessory complexes to regulate the process of CME in plant cells.

关键词： Adaptor Protein 2 auxin clathrin endocytosis salicylic acid TPLATE complex tyrphostin A23 Arabidopsis

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Adaptive evolution to the natural and anthropogenic environment in a global invasive crop pest,the cotton bollworm

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The Innovation 2023年第4期4卷 91-101页

作者： Minghui Jin Henry L.North Yan Peng Hangwei Liu Bo Liu Ruiqing pan Yan Zhou Weigang Zheng Kaiyu Liu Bo Yang Lei Zhang Qi Xu Samia Elfekih Wendy A.Valencia-Montoya Tom Walsh Peng Cui Yongfeng Zhou Kenneth Wilson Chris Jiggins Kongming Wu Yutao Xiao Shenzhen Branch Guangdong Laboratory of Lingnan Modern AgricultureKey Laboratory of Gene Editing Technologies(Hainan)Ministry of Agriculture and Rural AffairsAgricultural Genomics Institute at ShenzhenChinese Academy of Agricultural SciencesShenzhen 518116China The State Key Laboratory for Biology of Plant Disease and Insect Pests Institute of Plant ProtectionChinese Academy of Agricultural SciencesWest Yuanmingyuan RoadBeijing 100193China department of Zoology University of CambridgeCambridge CB21SZUK College of Plant Science and Technology Huazhong Agricultural UniversityWuhan 430070China Lancaster Environment Centre Lancaster UniversityLancaster LA14YWUK Berry Genomics Corporation Beijing 102200China Institute of Entomology School of Life SciencesCentral China Normal UniversityWuhan 430079China Australian Centre for Disease Preparedness(ACDP) CSIRO Health&BiosecurityEast GeelongVIC 3169Australia Bio21 Institute and the School of Biosciences The University of MelbourneMelbourneVIC 3010Australia department of Organismic and Evolutionary Biology and Museum of Comparative Zoology Harvard UniversityCambridgeMA 02138USA CSIRO Land and Water Black Mountain LaboratoriesCanberraACT 2601Australia

The cotton bollworm,Helicoverpa armigera,is set to become the most economically devastating crop pest in the world,threatening food security and biosafety as its range expands across the *** to understanding the eco-evolutionary dynamics of ***,and thus its management,is an understanding of population connectivity and the adaptations that allow the pest to establish in unique *** assembled a chromosome-scale reference genome and re-sequenced 503 individuals spanning the species range to delineate global patterns of connectivity,uncovering a previously cryptic population structure.

关键词： connectivity cotton evolution

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