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Science China(Life Sciences) 2024年第5期67卷 1082-1084页

作者： Chang-Jun Zhang zi-bing jin Beijing Institute of Ophthalmology Beijing Tongren HospitalCapital Medical UniversityBeijing 100730China

The discovery of induced pluripotent stem cells(iPSCs)has revolutionized the field of disease research,providing a promising platform for studying various *** the last decade,significant progress has been made in combining iPSCs with other cutting-edge technologies to investigate disease mechanisms and develop potential treatments.

关键词： conditions patients retinitis

Patient-derived induced pluripotent stem cells with a MERTK mutation exhibit cell junction abnormalities and aberrant cellular differentiation potential

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World Journal of Stem Cells 2024年第5期16卷 512-524页

作者： Hang Zhang Ling-zi Wu Zhen-Yu Liu zi-bing jin Beijing Institute of Ophthalmology Beijing Tongren Eye CenterBeijing Tongren HospitalCapital Medical UniversityBeijing 100730China

BACKGROUND Human induced pluripotent stem cell(hiPSC)technology is a valuable tool for generating patient-specific stem cells,facilitating disease modeling,and invest-igating disease ***,iPSCs carrying specific mutations may limit their clinical applications due to certain inherent *** To investigate the impact of MERTK mutations on hiPSCs and determine whether hiPSC-derived extracellular vesicles(EVs)influence anomalous cell junction and differentiation *** We employed a non-integrating reprogramming technique to generate peripheral blood-derived hiPSCs with and hiPSCs without a MERTK ***-somal karyotype analysis,flow cytometry,and immunofluorescent staining were utilized for hiPSC *** and proteomics were employed to elucidate the expression patterns associated with cell junction abnormalities and cellular differentiation ***,EVs were isolated from the supernatant,and their RNA and protein cargos were examined to investigate the involvement of hiPSC-derived EVs in stem cell junction and *** The generated hiPSCs,both with and without a MERTK mutation,exhibited normal karyotype and expressed pluripotency markers;however,hiPSCs with a MERTK mutation demonstrated anomalous adhesion capability and differentiation potential,as confirmed by transcriptomic and proteomic ***,hiPSC-derived EVs were involved in various biological processes,including cell junction and *** HiPSCs with a MERTK mutation displayed altered junction characteristics and aberrant differentiation ***,hiPSC-derived EVs played a regulatory role in various biological processes,including cell junction and differentiation.

关键词： Cell junction Cellular differentiation Extracellular vesicle Human induced pluripotent stem cells Transcriptomics Proteomics

Timp1 Deletion Induces Anxiety-like Behavior in Mice

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Neuroscience Bulletin 2024年第6期40卷 732-742页

作者： Xiaotong Wang Wei Zheng ziyi Zhu Biyu Xing Weijie Yan Ke Zhu Lingli Xiao Chaojuan Yang Mengping Wei Lei Yang zi-bing jin Xueyun Bi Chen Zhang State Key Laboratory of Neurology and Oncology Drug Development Nanjing210000China School of Basic Medical Sciences Wenzhou Medical UniversityWenzhou325035China School of Basic Medical Sciences Beijing Key Laboratory of Neural Regeneration and RepairAdvanced Innovation Center for Human Brain ProtectionBeijing Laboratory of Oral HealthCapital Medical UniversityBeijing100069China Beijing Institute of Ophthalmology Beijing Tongren Eye CenterBeijing Tongren HospitalCapital Medical UniversityBeijing100005China Chinese Institute for Brain Research Beijing102206China Key Laboratory for Biomechanics and Mechanobiology of the Ministry of Education Beijing Advanced Innovation Center for Biomedical EngineeringSchool of Engineering MedicineBeihang UniversityBeijing100191China

The hippocampus is essential for learning and memory,but it also plays an important role in regulating emotional behavior,as hippocampal excitability and plasticity affect anxiety and *** synaptic plasticity may be regulated by tissue inhibitor of matrix metalloproteinase 1(TIMP1),a known protein inhibitor of extracellular matrix(ECM),and the expression of TIMP1 in the hippocampus can be induced by neuronal excitation and various ***,the involvement of Timp1 in fear learning,anxiety,and hippocampal synaptic function remains to be *** study of Timp1 function in vivo revealed that Timp1 knockout mice exhibit anxiety-like behavior but normal fear *** results suggested that Timp1 knockout mice showed hyperactivity in the ventral CA1 region,but the basic synaptic transmission and plasticity were normal in the Schaffer collateral *** together,our results suggest that deletion of Timp1 in vivo leads to the occurrence of anxiety behaviors,but that Timp1 is not crucial for fear learning.

关键词： Timp1 Anxiety Fear Synaptic transmission Synaptic plasticity

A rational consideration of the genomic instability of human-induced pluripotent stem cells for clinical applications

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中国科学:生命科学英文版 2023年第9期66卷 2198-2200页

作者： Hang Zhang zi-bing jin Beijing Institute of Ophthalmology Beijing Tongren HospitalCapital Medical UniversityBeijing 100730 China

Induced pluripotent stem cells (i PSCs) have gained popularity in regenerative medicine because of their ability to replicate and differentiate into multiple cell types, which has provided researchers with a powerful tool for modeling diseases and exploring treatments for human disorders. As i PSCs are obtained from the patient’s cells and possess the same potential as embryonic stem cells (ESCs).

关键词： pluripotent diseases rational

Functional microglia derived from human pluripotent stem cells empower retinal organs

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Science China(Life Sciences) 2022年第6期65卷 1057-1071页

作者： Mei-Ling Gao Xiao Zhang Fang Han Jia Xu Si-Jian Yu Kangxin jin zi-bing jin Institute of Stem Cell Research The Eye HospitalWenzhou Medical UniversityWenzhou 325027China Beijing Institute of Ophthalmology Beijing Tongren Eye CenterBeijing Tongren HospitalCapital Medical UniversityBeijing Ophthalmology&Visual Sciences Key LaboratoryBeijing 100730China

Microglia are known to play essential roles in the development,progression and treatment of diverse neurodegenerative diseases in the central nervous system,including the retina,brain and spinal ***,brain-induced microglia-like cells(iMGs)have been generated from human pluripotent stem cells(hPSCs);however,retinal microglia have yet to be developed in *** this study,by mimicking in vivo microglial development,we established a simplified approach to differentiate hPSCs into high purity(>90%)*** iMGs express microglia-specific markers,release cytokines upon stimulation,and are capable of phagocytizing *** co-cultured with three-dimensional human retinal organoids(hROs),iMGs migrated into the hROs,tended to differentiate into resident retinal microglia,and simultaneously induced apoptosis in some neural ***,the resident i MGs in the hROs formed sparse web-like structures beneath the photoreceptor cell layer,resembling microglia's orientation in human *** conclusion,we developed a simplified and efficient method to generate microglia from human pluripotent stem cells,and we report the first derivation of retinaresident microglia in vitro,providing a new source of human retinal microglia for developmental and disease studies and regenerative therapeutics.

关键词： microglia retinal organoid pluripotent stem cells differentiation human induced reprogramming

Retinal organoids as models for development and diseases

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Cell Regeneration 2021年第1期10卷 352-361页

作者： Xiao Zhang Wen Wang zi-bing jin Beijing Institute of Ophthalmology Beijing Tongren Eye CenterBeijing Tongren HospitalCapital Medical UniversityBeijing Ophthalmology&Visual Science Key LaboratoryBeijing 100730China

The evolution of pluripotent stem cell-derived retinal organoids(ROs)has brought remarkable opportunities for developmental studies while also presenting new therapeutic avenues for retinal *** a clear understanding of how well these models mimic native retinas,such preclinical models may be crucial tools that are widely used for the more efficient translation of studies into novel treatment strategies for retinal *** modifications or patient-derived ROs can allow these models to simulate the physical microenvironments of the actual disease ***,we are currently at the beginning of the three-dimensional(3D)RO era,and a general quantitative technology for analyzing ROs derived from numerous differentiation protocols is still *** efforts to improve the efficiency and stability of differentiation,as well as understanding the disparity between the artificial retina and the native retina and advancing the current treatment strategies,will be essential in ensuring that these scientific advances can benefit patients with retinal ***,we briefly discuss RO differentiation protocols,the current applications of RO as a disease model and the treatments for retinal diseases by using RO modeling,to have a clear view of the role of current ROs in retinal development and diseases.

关键词： strategies benefit missing

R102W mutation in the RS1 gene responsible for retinoschisis and recurrent glaucoma

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International Journal of Ophthalmology(English edition) 2014年第1期7卷 169-172页

作者： Xiu-Feng Huang Chang-Sen Tu Dong-Jun Xing De-Kang Gan Ge-Zhi Xu zi-bing jin Division of Ophthalmic Genetics Laboratory for Stem Cell & Retinal Regenerationthe Eye Hospital of Wenzhou Medical University The State Key Laboratory Cultivation Base and NHFPC Key Laboratory of Vision Science Department of Ophthalmology the EENT Hospital of Fudan University

AIM: To identify the mutations in RS1 gene associated with typical phenotype of X-linked juvenile retinoschisis(XLRS) and a rare condition of concomitant glaucoma. ·METHODS: Complete ophthalmic examinations were performed in the proband. The coding regions of the RS1 gene that encode retinoschisin were amplified by polymerase chain reaction and directly sequenced. ·RESULTS: The proband showed a typical phenotype of XLRS with large peripheral retinal schisis in both eyes,involving the macula and combined with foveal cystic change,reducing visual acuity. A typical phenotype of recurrent glaucoma with high intraocular pressure(IOP) and reduced visual field was also demonstrated with the patient. Mutation analysis of RS1 gene revealed R102W(c.304C>T) mutations in the affected male,and his mother was proved to be a carrier with the causative mutation and another synonymous polymorphism(c.576C>CT). ·CONCLUSION: We identified the genetic variations of a Chinese family with typical phenotype of XLRS and glaucoma. The severe XLRS phenotypes associated with R102W mutations reveal that the mutation determines a notable alteration in the function of the retinoschisin protein. Identification of the disease-causing mutation is beneficial for future clinical references.

关键词： X-linked retinoschisis glaucoma RS1 gene mutation

Nonhuman Primate Model of Oculocutaneous Albinismwith TYR and OCA2 Mutations

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Research 2020年第1期2020卷 135-145页

作者： Kun-Chao Wu Ji-Neng Lv Hui Yang Feng-Mei Yang Rui Lin Qiang Lin Ren-Juan Shen Jun-Bin Wang Wen-Hua Duan Min Hu Jun Zhang Zhan-Long He zi-bing jin Division of Ophthalmic Genetics The Eye HospitalLaboratory for Stem Cell&Retinal RegenerationInstitute of Stem Cell ResearchWenzhou Medical UniversityWenzhou 325027China National Center for International Research in Regenerative Medicine and Neurogenetics National Clinical Research Center for Ocular DiseasesState Key Laboratory of OphthalmologyOptometry and Visual ScienceWenzhou 325027China Institute of Medical Biology Chinese Academy of Medical SciencesAnd Peking Union Medical College(CAMS&PUMC)Yunnan Key Laboratory of Vaccine Research Development on Severe Infectious DiseaseKunming 650118China Department of Ophthalmology The Second People’s Hospital of Yunnan ProvinceFourth Affiliated Hospital of Kunming Medical UniversityKey Laboratory of Yunnan Province for the Prevention and Treatment of OphthalmologyKunming 650021China Laboratory of Retinal Physiology&Disease The Eye HospitalWenzhou Medical UniversityWenzhou 325027China

Human visual acuity is anatomically determined by the retinal *** ontogenetic development of the fovea can be seriously hindered by oculocutaneous albinism(OCA),which is characterized by a disorder of melanin *** people of all ethnic backgrounds can be affected,no efficient treatments for OCA have been developed thus far,due partly to the lack of effective animal *** macaques are genetically homologous to humans and,most importantly,exhibit structures of the macula and fovea that are similar to those of humans;thus,rhesus macaques present special advantages in the modeling and study of human macular and foveal *** this study,we identified rhesus macaque models with clinical characteristics consistent with those of OCA patients according to observations of ocular behavior,fundus examination,and optical coherence *** sequencing revealed a biallelic p.L312I mutation in TYR and a homozygous p.S788L mutation in OCA2,both of which were further confirmed to affect melanin biosynthesis via in vitro *** rhesus macaque models of OCA will be useful animal resources for studying foveal development and for preclinical trials of new therapies for OCA.

关键词： clinical cutaneous ism

Enhancing whole yeast genome rearrangements through multiple LoxPsym sequences

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Science China(Life Sciences) 2024年第9期67卷 2045-2047页

作者： bing-Zhi Li Ying-jin Yuan Frontiers Science Center for Synthetic Biology and Key Laboratory of Systems Bioengineering(Ministry of Education) School of Chemical Engineering and TechnologyTianjin UniversityTianjin 300072China Frontiers Research Institute for Synthetic Biology Tianjin UniversityTianjin 300072China

Genomic rearrangements play a significant role in disease,evolution,and tumorigenesis(Mani and Chinnaiyan,2010).While single nucleotide polymorphisms(SNPs)and small insertions/deletions contribute substantially to gen... 详细信息

关键词： insertion sequences

Prioritizing natural-selection signals from the deep-sequencing genomic data suggests multi-variant adaptation in Tibetan highlanders

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National Science Review 2019年第6期6卷 1201-1222页

作者： Lian Deng Chao Zhang Kai Yuan Yang Gao Yuwen Pan Xueling Ge Yaoxi He Yuan Yuan Yan Lu Xiaoxi Zhang Hao Chen Haiyi Lou Xiaoji Wang Dongsheng Lu Jiaojiao Liu Lei Tian Qidi Feng Asifullah Khan Yajun Yang zi-bing jin Jian Yang Fan Lu Jia Qu Longli Kang bing Su Shuhua Xu Key Laboratory of Computational Biology CAS-MPG Partner Institute for Computational BiologyShanghai Institute of Nutrition and HealthShanghai Institutes for Biological SciencesUniversity of Chinese Academy of SciencesChinese Academy of Sciences School of Life Science and Technology Shanghai Tech University State Key Laboratory of Genetic Resources and Evolution Kunming Institute of Zoology Chinese Academy of Sciences State Key Laboratory of Genetic Engineering and Ministry of Education (MOE) Key Laboratory of Contemporary Anthropology School of Life Sciences Fudan University The Eye Hospital School of Ophthalmology &Optometry Wenzhou Medical University China National Center for International Research in Regenerative Medicine and Neurogenetics Institute for Molecular Bioscience Queensland Brain Institute The University of Queensland Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region School of Medicine Xizang Minzu University Center for Excellence in Animal Evolution and Genetics Chinese Academy of Sciences Collaborative Innovation Center of Genetics and Development Human Phenome Institute Fudan University

Human genetic adaptation to high altitudes(>2500 m) has been extensively studied over the last few years,but few functional adaptive genetic variants have been identified, largely owing to the lack of deep-genome sequencing data available to previous studies. Here, we build a list of putative adaptive variants, including 63 missense, 7 loss-of-function, 1,298 evolutionarily conserved variants and 509 expression quantitative traits loci. Notably, the top signal of selection is located in TMEM247, a transmembrane protein-coding *** Tibetan version of TMEM247 harbors one high-frequency(76.3%) missense variant, rs116983452(c.248 C > T; ***83 Val), with the T allele derived from archaic ancestry and carried by >94% of Tibetans but absent or in low frequencies(<3%) in non-Tibetan populations. The rs116983452-T is strongly and positively correlated with altitude and significantly associated with reduced hemoglobin concentration(p = 5.78 × 10), red blood cell count(p = 5.72 × 10) and hematocrit(p = 2.57 × 10). In particular, TMEM247-rs116983452 shows greater effect size and better predicts the phenotypic outcome than any EPAS1 variants in association with adaptive traits in Tibetans. Modeling the interaction between TMEM247-rs116983452 and EPAS1 variants indicates weak but statistically significant epistatic *** results support that multiple variants may jointly deliver the fitness of the Tibetans on the plateau,where a complex model is needed to elucidate the adaptive evolution mechanism.

关键词： Tibetan adaptive genetic variant high-altitude adaptation next-generation sequencing(NGS) archaic ancestry expression quantitative traits loci(eQTL) tissue-specific expression hemoglobin concentration hypoxia