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Genetic evidence for facial variation being a composite phenotype of cranial variation and facial soft tissue thickness

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Journal of genetics and Genomics 2022年第10期49卷 934-942页

作者： Wei Qian Manfei Zhang Kaiwen Wan Yunxia Xie Siyuan Du Jiarui Li Xiongzheng Mu Jiange Qiu Xiangyang Xue Xiahai Zhuang Yingzhi Wu Fan Liu Sijia Wang State Key Laboratory of Genetic Engineering Human Phenome InstituteZhangjiang Fudan International Innovation CenterFudan UniversityShanghai 201203China School of Computer Science Fudan UniversityShanghai 200438China CAS Key Laboratory of Computational Biology Shanghai Institute of Nutrition and HealthUniversity of Chinese Academy of SciencesChinese Academy of SciencesShanghai 200031China School of Data Science Fudan UniversityShanghai 200433China Academy of Medical Science Zhengzhou UniversityZhengzhouHenan 450052China Department of Plastic Surgery Huashan HospitalFudan UniversityShanghai 200040China CAS Key Laboratory of Genomic and Precision Medicine Beijing Institute of GenomicsUniversity of Chinese Academy of SciencesBeijing 100101China School of Future Technology University of Chinese Academy of SciencesBeijing 101408China Center for Excellence in Animal Evolution and genetics Chinese Academy of SciencesKunmingYunnan 650223China

Facial and cranial variation represent a multidimensional set of highly correlated and heritable *** is known about the genetic basis explaining this *** develop a software package ALo SFL for simultaneous localization of facial and cranial landmarks from head computed tomography(CT)images,apply it in the analysis of head CT images of 777 Han Chinese women,and obtain a set of phenotypes representing variation in face,skull and facial soft tissue thickness(FSTT).Association analysis of 301 single nucleotide polymorphisms(SNPs)from 191 distinct genomic loci previously associated with facial variation reveals an unexpected larger number of loci showing significant associations(P<1e-3)with cranial phenotypes than expected under the null(O/E=3.39),suggesting facial and cranial phenotypes share a substantial proportion of genetic *** FSTT to a SNP-only model shows a large impact in explaining facial variance.A gene ontology analysis reveals that bone morphogenesis and osteoblast differentiation likely underlie our cranial-significant ***,this study simultaneously investigates the genetic effects on both facial and cranial variation of the same sample,supporting that facial variation is a composite phenotype of cranial variation and FSTT.

关键词： Facial variation Cranial variation Association analysis Single nucleotide polymorphism Facial soft tissue thickness Computed tomography

The molecular epidemiology of multiple zoonotic origins of SARS-CoV-2

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四川生理科学杂志 2022年第7期44卷 1299-1299页

作者： Jonathan E Pekar Bioinformatics and Systems Biology graduate program University of California San Diego La Jolla CA 92093 USA. Department of Biomedical Informatics University of California San Diego La Jolla CA 92093 USA. Department of Human genetics David Geffen School of Medicine University of California Los Angeles Los Angeles CA 90095 USA. Department of Immunology and Microbiology The Scripps Research Institute La Jolla CA 92037 USA. Department of Computer Science and Engineering University of California San Diego La Jolla CA 92093 USA. Department of Mathematics University of California San Diego La Jolla CA 92093 USA. Department of Ecology and Evolutionary Biology University of Arizona Tucson AZ 85721 USA. W. Harry Feinstone Department of Molecular Microbiology and Immunology Johns Hopkins Bloomberg School of Public Health Baltimore MD 21205 USA. New York City Public Health Laboratory New York City Department of Health and Mental Hygiene New York NY 11101 USA. Department of Microbiology Institute for Viral Diseases Biosafety Center College of Medicine Korea University Seoul South Korea. BK21 graduate program Department of Biomedical Sciences Korea University College of Medicine Seoul 02841 Republic of Korea. National Public Health Laboratory National Centre for Infectious Diseases Singapore. Malaysia Genome and Vaccine Institute Jalan Bangi 43000 Kajang Selangor Malaysia. Department of Medicine University of California San Diego La Jolla CA 92093 USA. Department of Microbiology and Immunology School of Medicine Tulane University New Orleans LA 70112 USA. Zalgen Labs Frederick MD 21703 USA. Global Virus Network (GVN) Baltimore MD 21201 USA. Sydney Institute for Infectious Diseases School of Life and Environmental Sciences and School of Medical Sciences The University of Sydney Sydney NSW 2006 Australia. Institute of Evolutionary Biology University of Edinburgh King’s Buildings Edinburgh EH9 3FL UK. Department of Biomathematics David Geffen Sch

Understanding the circumstances that lead to pandemics is important for their prevention. Here, we analyze the genomic diversity of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) early in the coronavirus disease 2019 (COVID-19) pandemic. We show that SARS-CoV-2 genomic diversity before February 2020 likely comprised only two distinct viral lineages, denoted A and B. Phylodynamic rooting methods, coupled with epidemic simulations, reveal that these lineages were the result of at least two separate cross-species transmission events into humans. The first zoonotic transmission likely involved lineage B viruses around 18 November 2019 (23 October-8 December), while the separate introduction of lineage A likely occurred within weeks of this event.

关键词： epidemiology likely acute

Tn5-FISH,a novel cytogenetic method to image chromatin interactions with sub-kilobase resolution

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Journal of genetics and Genomics 2020年第12期47卷 727-734页

作者： Jing Niu Xu Zhang Li Guipeng Pixi Yan Qing Yan Qionghai Dai Dayong Jin Xiaohua Shen Jichang Wang Michael QZhang Juntao Gao School of Medicine Tsinghua UniversityBeijing 100084China Department of Automation Tsinghua UniversityBeijing 100084China Beijing Institute of Collaborative Innovation Beijing 100094China Medi-X Institute SUSTech Academy for Advanced Interdisciplinary StudiesSouthern University of Science and TechnologyShenzhen 518055China Department of Biology Southern University of Science and TechnologyShenzhen 518055China MOE Key Laboratory of Bioinformatics Bioinformatics DivisionBNRistCenter for Synthetic&Systems BiologyTsinghua UniversityBeijing 100084China Institute for Biomedical Materials and Devices(IBMD) Faculty of ScienceUniversity of Technology SydneyNSW 2007Australia UTS-SUStech Joint Research Centre for Biomedical Materials and Devices Department of Biomedical EngineeringSouthern University of Science and TechnologyShenzhen 518055China Key Laboratory for Stem Cells and Tissue Engineering(Sun Yat-sen University) Ministry of EducationGuangzhou 510080China Department of histology and embryology Zhongshan School of MedicineSun Yat-sen UniversityGuangzhou 510080China Department of Biological Sciences Center for Systems BiologyThe University of TexasDallasTX 75080-3021USA

There is an increasing interest in understanding how three-dimensional(3D)organization of the genome is *** strategies have been employed to identify genome-wide chromatin ***,due to current limitations in resolving genomic contacts,visualization and validation of these genomic loci with sub-kilobase resolution remain unsolved to ***,we describe Tn5 transposase-based Fluorescencein situhybridization(Tn5-FISH),a PCR-based,cost-effective imaging method,which can co-localize the genomic loci with sub-kilobase resolution,dissect genome architecture,and verify chromatin interactions detected by chromatin configuration capture(3C)-derived *** validate this method,short-range interactions in keratin-encoding gene(KRT)locus in topologically associated domain(TAD)were imaged by triple-color Tn5-FISH,indicating that Tn5-FISH is very useful to verify short-range chromatin interactions inside the contact domain and ***,Tn5-FISH can be a powerful molecular tool for the clinical detection of cytogenetic changes in numerous genetic diseases such as cancers.

关键词： Fluorescencein situhybridization Chromatin interaction Cellular imaging Super resolution

Signalling pathways in autism spectrum disorder:mechanisms and therapeutic implications

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Signal Transduction and Targeted Therapy 2022年第8期7卷 2863-2898页

作者： Chen-Chen Jiang Li-Shan Lin Sen Long Xiao-Yan Ke Kohji Fukunaga Ying-Mei Lu Feng Han International Joint Laboratory for Drug Target of Critical Illnesses Key Laboratory of Cardiovascular&Cerebrovascular MedicineSchool of PharmacyNanjing Medical UniversityNanjing 211166China Department of Physiology School of Basic Medical SciencesNanjing Medical UniversityNanjing 211166China Department of Pharmacy Hangzhou Seventh People’s HospitalMental Health Center Zhejiang University School of MedicineHangzhou 310013China Child Mental Health Research Center Nanjing Brain HospitalNanjing Medical UniversityNanjing 210029China Department of CNS Drug Innovation Graduate School of Pharmaceutical SciencesTohoku UniversitySendai 980-8578Japan Institute of Brain Science The Affiliated Brain Hospital of Nanjing Medical UniversityNanjing 210029China Gusu School Nanjing Medical UniversitySuzhou Municipal HospitalThe Affiliated Suzhou Hospital of Nanjing Medical UniversitySuzhou 215002China

Autism spectrum disorder(ASD)is a prevalent and complex neurodevelopmental disorder which has strong genetic *** the rapidly rising incidence of autism,little is known about its aetiology,risk factors,and disease *** are currently neither validated biomarkers for diagnostic screening nor specific medication for *** the last two decades,there have been remarkable advances in genetics,with hundreds of genes identified and validated as being associated with a high risk for *** convergence of neuroscience methods is becoming more widely recognized for its significance in elucidating the pathological mechanisms of *** have been devoted to exploring the behavioural functions,key pathological mechanisms and potential treatments of ***,as we highlight in this review,emerging evidence shows that signal transduction molecular events are involved in pathological processes such as transcription,translation,synaptic transmission,epigenetics and immunoinflammatory *** involvement has important implications for the discovery of precise molecular targets for ***,we review recent insights into the mechanisms and clinical implications of signal transduction in autism from molecular,cellular,neural circuit,and neurobehavioural ***,the challenges and future perspectives are discussed with regard to novel strategies predicated on the biological features of autism.

关键词： mechanisms spectrum behaviour

Adhesive hydrogels for bioelectronics

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Biomedical Engineering Communications 2023年第3期2卷 21-37页

作者： Yu-Jing Sheng Yun Chen Jian-Feng Qiu Xi Yang Ru-Liang Zhang Ying-Lun Sun Institute of Medical Engineering and interdisciplinary Research Medical Science and Technology Innovation CenterShandong First Medical University&Shandong Academy of Medical SciencesJinan 250118China School of Materials Science and Engineering Shandong University of Science and TechnologyQingdao 266590China Medical Engineering and Technology Research Center School of RadiologyShandong First Medical University&Shandong Academy of Medical SciencesTaian 271000China Department of Mathematics&Statistics Graduate School of Arts&SciencesBoston UniversityMassachusetts 02115USA

Benefiting from the unique advantages of superior biocompatibility,strong stability,good biodegradability,and adjustable mechanical properties,hydrogels have attracted extensive research interests in ***,due to the existence of an interface between hydrogels and human tissues,the transmission of electrical signals from the human tissues to the hydrogel electronic devices will be *** adhesive hydrogels with adhesive properties can tightly combine with the human tissue,which can enhance the contact between the electronic devices and human tissues and reduce the contact resistance,thereby improving the performance of hydrogel electronic *** this review,we will discuss in detail the adhesion mechanism of adhesive hydrogels and elaborate on the design principles of adhesive *** that,we will introduce some methods of performance evaluation for adhesive ***,we will provide a perspective on the development of adhesive hydrogel bioelectronics.

关键词： adhesive hydrogels bioelectronics flexible electronic devices adhesion mechanism sensors

Fine and ultrafine particle- and gas-polycyclic aromatic hydrocarbons affecting southern Thailand air quality during transboundary haze and potential health effects

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Journal of Environmental Sciences 2023年第2期124卷 253-267页

作者： Napawan Mahasakpan Phatsarakorn Chaisongkaew Muanfun Inerb Nobchonnee Nim Worradorn Phairuang Surajit Tekasakul Masami Furuuchi Mitsuhiko Hata Thaniya Kaosol Perapong Tekasakul Racha Dejchanchaiwong Air Pollution and Health Effect Research Center Prince of Songkla UniversityHat YaiSongkhla 90110Thailand Energy Technology program Faculty of EngineeringPrince of Songkla UniversityHat YaiSongkhla 90110Thailand Faculty of Environmental Management Prince of Songkla UniversityHat YaiSongkhla 90110Thailand Department of Geography Faculty of Social SciencesChiang Mai UniversityMuangChiang Mai 50200Thailand Department of Chemistry Faculty of SciencePrince of Songkla UniversityHat YaiSongkhla 90110Thailand Faculty of Geoscience and Civil Engineering Institute of Science and EngineeringKanazawa UniversityKakuma-machiKanazawaIshikawa 920-1192Japan Department of Civil and Environmental Engineering Faculty of EngineeringPrince of Songkla UniversityHat YaiSongkhla 90110Thailand Department of Mechanical and Mechatronics Engineering Faculty of EngineeringPrince of Songkla UniversityHat YaiSongkhla 90110Thailand Department of Chemical Engineering Faculty of EngineeringPrince of Songkla UniversityHat YaiSongkhla 90110Thailand

Distribution of PM_(0.1),PM_(1) and PM_(2.5) particle-and gas-polycyclic aromatic hydrocarbons(PAHs)during the 2019 normal,partial and strong haze periods at a background location in southern Thailand were investigated to understand the behaviors and carcinogenic ***1 was the predominant component,during partial and strong haze periods,accounting for 45.1% and 52.9% of total suspended particulate matter,respectively,while during normal period the contribution was only 34.0%.PM_(0.1) concentrations,during the strong haze period,were approximately 2 times higher than those during the normal *** increased levels of particle-PAHs for PM_(0.1),PM_(1) and PM_(2.5) were observed during strong haze period,about 3,5 and 6 times higher than those during normal ***-PAH concentrations were 10 to 36 times higher than those of particle-PAHs for PM_(2.5).Average total Benzo[a]Pyrene Toxic Equivalency Quotients(BaP-TEQ)in PM_(0.1),PM_(1) and PM_(2.5) during haze periodswere about 2–6 times higher than in the normal *** total accumulated Incremental Lifetime Cancer Risks(ILCRs)in PM_(0.1),PM_(1) and PM_(2.5) for all the age-specific groups during the haze effected scenario were approximately 1.5 times higher than those in nonhaze scenario,indicating a higher potential carcinogenic *** observations suggest PM_(0.1),PM_(1) and PM_(2.5) were the significant sources of carcinogenic aerosols and were significantly affected by transboundary haze from peatland *** leads to an increase in the volume of smoke aerosol,exerting a significant impact on air quality in southern Thailand,as well as many other countries in lower southeast Asia.

关键词： Particle-PAH Gas-PAH Ultrafine particle Health risk Source identification

The Huanan Seafood Wholesale Market in Wuhan was the early epicenter of the COVID-19 pandemic

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四川生理科学杂志 2022年第7期44卷 1246-1246页

作者： Michael Worobey Department of Ecology and Evolutionary Biology University of Arizona Tucson AZ 85721 USA. Department of Immunology and Microbiology The Scripps Research Institute La Jolla CA 92037 USA. W. Harry Feinstone Department of Molecular Microbiology and Immunology Johns Hopkins Bloomberg School of Public Health Baltimore MD 21205 USA. Bioinformatics and Systems Biology graduate program University of California San Diego La Jolla CA 92093 USA. Department of Biomedical Informatics University of California San Diego La Jolla CA 92093 USA. Department of Human genetics University of Utah School of Medicine Salt Lake City UT 84112 USA. Vaccine and Infectious Disease Organization University of Saskatchewan Saskatoon SK S7N 5E3 Canada. Center for Global Health Science and Security Georgetown University Washington DC 20057 USA. Department of Zoology University of Oxford Oxford OX1 3SZ UK. Wildlife Conservation Research Unit Department of Zoology The Recanati-Kaplan Centre University of Oxford Oxford OX13 5QL UK. Pandemic and Disaster Preparedness Centre Erasmus University Medical Center 3015 CE Rotterdam Netherlands. Department of Viroscience Erasmus University Medical Center 3015 CE Rotterdam Netherlands. Department of Biostatistics Fielding School of Public Health University of California Los Angeles Los Angeles CA 90095 USA. Department of Human genetics David Geffen School of Medicine University of California Los Angeles Los Angeles CA 90095 USA. Department of Computational Medicine David Geffen School of Medicine University of California Los Angeles Los Angeles CA 90095 USA. Department of Medicine University of California San Diego La Jolla CA 92093 USA. Department of Microbiology Immunology and Transplantation Rega Institute for Medical Research KU Leuven 3000 Leuven Belgium. Global Virus Network (GVN) Baltimore MD 21201 USA. MRC-University of Glasgow Center for Virus Research Glasgow G61 1QH UK. Tulane University School of Medicine Department of Mi

Understanding how severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)emerged in 2019 is critical to preventing zoonotic outbreaks before they become the next *** Huanan Seafood Wholesale Market in Wuhan,China,was identified as a likely source of cases in early reports but later this conclusion became *** show the earliest known COVID-19 cases from December 2019,including those without reported direct links,were geographically centered on this *** report that live SARS-CoV-2 susceptible mammals were sold at the market in late 2019 and,within the market,SARS-CoV-2-positive environmental samples were spatially associated with vendors selling live mammals.

关键词： Market likely Wuhan

High-efficiency Agrobacterium-mediated transformation of chrysanthemum via vacuum infiltration of internode

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Ornamental Plant Research 2022年第1期2卷 1-7页

作者： Sujuan Xu Ze Wu Jingya Zhao Fengjiao Zhang Xinqi Zhang Fadi Chen Nianjun Teng Key Laboratory of Landscaping Agriculture Ministry of Agriculture and Rural Affairs/Key Laboratory of Biology of Ornamental Plants in East ChinaNational Forestry and Grassland AdministrationCollege of HorticultureNanjing Agricultural UniversityNanjing 210095China Nanjing Agricultural University-Nanjing Oriole Island Modern Agricultural Development Co. Ltd.Jiangsu Graduate WorkstationNanjing 210043China

Leaf disc transformation is one of the traditional methods that are now widely used in chrysanthemum with highly economical and ornamental value in world flower production,but it depends on plant genotypes and is time consuming and *** addition,the transformation success rate of this method is low,generally ranging from 0.1%to 6.25%.Therefore,a highly efficient transformation system is *** this study,we are the first to establish a high-efficient chrysanthemum Agrobacterium-mediated transformation system via vacuum *** stem internode explants were used as research material and CmLEC1 was used as a reporter *** approximately 3 months of culture and selection,the positive transgenic plants were ***,the positive probability was about 42%.The transformation efficiency was up to 37.7%,and if the escapes were removed,it was 16%.Furthermore,stable expression of CmLEC1 in transgenic'Yuhualuoying'was confirmed by qRT-PCR *** results suggest that this genetic transformation system via vacuum infiltration of chrysanthemum stem internode is highly efficient and convenient,and much better than traditional leaf disc transformation,and it will play an important role in chrysanthemum transformation and functional genetics research.

关键词： transformation vacuum removed

Molecular epidemiology of hepatitis B virus in Asia

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World Journal of Medical genetics 2014年第2期4卷 19-26页

作者： Takako Utsumi Yoshihiko Yano Hak Hotta Indonesia-Japan Collaborative Research Center for Emerging and Re-emerging Infectious Diseases Institute of Tropical Disease Airlangga University Center for Infectious Diseases Kobe University Graduate School of Medicine

Although safe and effective vaccines against hepatitis B virus(HBV) have been available for three decades, HBV infection remains the leading cause of chronic hepatitis, cirrhosis and hepatocellular carcinoma(HCC) worldwide, especially in Asian countries. HBV has been classified into at least 9 genotypes according to the molecular evolutionary analysis of the genomic DNA sequence and shown to have a distinct geographical distribution. Novel HBV genotypes/subgenotypes have been reported, especially from Southeast Asian countries. The clinical characteristics and therapeutic effectiveness of interferon(IFN) and nucleos(t)ide analogues vary among different HBV genotypes. Mutations at T1653 C in subgenotype C2 from Japan and South Korea, C/A1753 T and C1858 T in subgenotype C1 from Vietnam, and C1638 T and T1753 V in subgenotype B3 from Indonesia were reported to be associated with advanced liver diseases including HCC. Genotype distribution in Japan has been changed by an increasing ratio of subgenotype A2 in chronic hepatitis B. While a large number of epidemiological and clinical studies have been reported from Asian countries, most of the studies were conducted in developed countries such as Taiwan, China, South Korea and Japan. In this review, the most recent publications on the geographical distribution of genetic variants of HBV and related issues such as disease progression and therapy in Asia are updated and summarized.

关键词： Hepatitis B virus Genotype Subgenotype Molecular epidemiology Asia Pathogenicity Drug resistance