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Biallelic variants in RBM42 cause a multisystem disorder with neurological,facial,cardiac,and musculoskeletal involvement

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Protein & cell 2024年第1期15卷 52-68页

作者： Yiyao Chen Bingxin Yang Xiaoyu Merlin Zhang Songchang Chen Minhui Wang Liya Hu Nina Pan Shuyuan Li Weihui Shi Zhenhua Yang Li Wang Yajing Tan Jian Wang Yanlin Wang Qinghe Xing Zhonghua Ma Jinsong Li He-Feng Huang Jinglan Zhang Chenming Xu institutes of Biomedical Sciences Fudan UniversityShanghai 200032China bstetrics and Gynecology Hospital Institute of Reproduction and DevelopmentFudan UniversityShanghai 200011China Intermational Peace Matermity and Child Health Hospital School of MedicineShanghai Jiao Tong UniversityShanghai 200030China Shanghai Key Laboratory of Embryo Original Diseases Shanghai 200030China State Key Laboratory of cell biology Shanghai Key Laboratory of Molecular AndrologyShanghai Institute of Biochemistry and Cell BiologyCAS Center for Excellence in Molecular Cell ScienceUniversity of Chinese Academy of SciencesChinese Academy of SciencesShanghai 200031China State Key Laboratory of Rice biology the Key Laboratory of Molecular Biology of Crop Pathogens and InsectsInstitute of BiotechnologyZhejiang UniversityHangzhou 310058China Verna and Marrs McLean Department of Biochemistry and Molecular biology Baylor College of MedicineHoustonTX 77030USA Children's hospital of Fudan University Shanghai 201102China School of Life Science and Technology Shanghai Tech UniversityShanghai 201210China School of Life Science Hangzhou Institute for Advanced StudyUniversity of Chinese Academy of SciencesHangzhou 310024ZhejiangChina Research Units of Embryo Original Diseases Chinese Academy of Medical Sciences(No.2019RU056)Shanghai 200011China

Here,we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 *** patient is a 2-year-old female with severe central nervous system(CNs)abnormalities,hypotonia,hearing loss,congenital heart defects,and dysmorphic facial *** whole-exome sequencing(WEs)reveals that the patient has two compound heterozygous variants,c.304C>T(p.R102*)and c.1312G>A(p.A438T),in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein *** p.A438T variant is in the RRM domain which impairs RBM42 pro-tein stability in ***,p.A438T disrupts the interaction of RBM42 with hnRNP K,which is the causa-tive gene for Au-Kline syndrome with overlapping disease characteristics seen in the index *** human R102*or A438T mutant protein failed to fully rescue the growth defects of RBM42 ortholog knockout△FgRbp1 in Fusarium while it was rescued by the wild-type(WT)human RBM42.A mouse model carying Rbm42 compound heterozygous variants,c.280C>T(p.Q94*)and c.1306_1308delinsACA(p.A436T),demonstrated gross fetal develop-mental defects and most of the double mutant animals died by ***-seq data confirmed that Rbm42 was involved in neurological and myocardial functions with an essential role in alternative splicing(As).Overall,we present clinical,genetic,and functional data to demonstrate that defects in RBM42 constitute the underlying etiology of a new neurodevelopmental disease which links the dysregulation of global AS to abnormal embryonic development.

关键词： RBM42 gene RNA-binding protein neurodevelopmental disorder Au-Kline syndrome alternative splicing

Enlarged DNA unwinding by Nme2Cas9 permits a broadened base editing window beyond the protospacer

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Science China(Life Sciences) 2024年第2期67卷 424-427页

作者： Ziting Chen Xiangyang Li Qian Zhang Wenjun Sun Xiaoxuan Song Xia Zhang Xingxu Huang Bo Sun School of Life Science and Technology and Gene Editing Center ShanghaiTech UniversityShanghai 201210China Zhejiang Lab HangzhouZhejiang 311121China CAS Center for Excellence in Molecular cell Science Shanghai Institute of Biochemistry and Cell BiologyChinese Academy of SciencesShanghai 200031China University of Chinese Academy of Sciences Beijing 100049China

Dear Editor,Base editing has been developed to be one of the effective CRISPR-based gene editing techniques(Rees and Liu,2018).Base editors(BEs)take advantage of DNAmodifying enzymes fused with a catalytically impaired CRISPR protein to install base *** BE,DNA-modifying enzymes often process nontarget singlestranded DNA(NTS)generated by Cas proteins.

关键词： install base winding

Metabolic restraining of epigenetic modifications promotes cardiomyocyte proliferation

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Life Metabolism 2024年第1期3卷 4-6页

作者： Xiuxiu Liu Bin Zhou New Cornerstone Science Laboratory State Key Laboratory of Cell BiologyCAS Center for Excellence in Molecular Cell ScienceShanghai Institute of Biochemistry and Cell BiologyChinese Academy of SciencesUniversity of Chinese Academy of SciencesShanghai 200031China Key Laboratory of Systems Health Science of Zhejiang Province School of Life ScienceHangzhou Institute for Advanced StudyUniversity of Chinese Academy of SciencesHangzhouZhejiang 310024China School of Life Science and Technology ShanghaiTech UniversityShanghai 201210China

The metabolic state of a cell is closely related to its structure and function in adult mammalian *** adult cardiomyocytes primarily use fatty acids as an energy substrate to support heart ***,Li and his colleagues reported that inhibiting fatty acid oxidation in cardiomyocytes keeps them in an immature *** influences epigenomic modifications and ultimately increases the proliferation capacity of the cardiomyocytes.

关键词： state. restrain primarily

Intracellular redox potential-driven live-cell synthesis of CdSe quantum dots in Staphylococcus aureus

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Science China Chemistry 2024年第3期67卷 990-999页

作者： Cai-Qin Wu An-An Liu Xu Li Jia-Wei Tu Juan Kong Ling-Ling Yang Jian-Hong Jia Chuan Wang Bin Hu Zhi-Xiong Xie Dai-Wen Pang The institute for Advanced Studies College of Chemistry and Molecular SciencesCollege of Life SciencesHubei Key Laboratory of Cell HomeostasisWuhan UniversityWuhan 430072China Research Center for Analytical Sciences College of ChemistryState Key Laboratory of Medicinal Chemical BiologyTianjin Key Laboratory of Biosensing and Molecular RecognitionFrontiers Science Center for New Organic MatterFrontiers Science Center for Cell Responsesand Haihe Laboratory of Sustainable Chemical TransformationsNankai UniversityTianjin 300071China

Biosynthesized semiconductor quantum dots(QDs) have bright fluorescence,adjustable particle sizes,and environmental friendliness,endowing them with convenience and potential for biological *** to the unclear mechanism of the cellular environment on the live-cell synthesis of QDs,it is still difficult to regulate their optical ***,the critical role of the intracellular redox environment in regulating the fluorescence properties of biosynthesized CdSe QDs in Staphylococcus aureus(***) has been *** glutathione peroxidase(GPx) activity directly affects the intracellular H_(2)O_(2) produced in the SeO_(3)^(2-) reduction,which further manipulates the glutathione redox cycle to determine the content of low-valence *** a result,the fluorescence intensity of the synthesized CdSe QDs increases by 60% in the GPx overexpressed *** cellular redox potential that is controlled by the GSH redox cycle provides the driving force for the reduction of SeO_(3)^(2-),facilitating the synthesis of CdSe QDs in *** *** proposed mechanism of the cellular redox state provides a new perspective for regulating the synthesis of semiconductor nanomaterials in live cells.

关键词： redox H_(2)O_(2) peroxidase quantum dot Staphylococcus aureus

The MADS-box transcription factor GmFULc promotes GmZTL4 gene transcription to modulate maturity in soybean

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Journal of Integrative Plant biology 2024年第8期66卷 1603-1619页

作者： Jingzhe Sun Yucheng Liu Yuhong Zheng Yongguo Xue Yuhuan Fan Xiaofei Ma Yujia Ji Gaoyuan Liu Xiaoming Zhang Yang Li Shuming Wang Zhixi Tian Lin Zhao Key Laboratory of Soybean biology of Ministry of Education China Northeast Agricultural UniversityHarbin 150030China Qingdao institute of Bioenergy and Bioprocess Technology The Chinese Academy of SciencesQingdao 266101China State Key Laboratory of Plant cell and Chromosome Engineering Institute of Genetics and Developmental BiologyInnovation Academy for Seed DesignThe Chinese Academy of SciencesBeijing 100101China Jilin Academy of Agricultural Sciences China Agricultural Science and Technology Northeast Innovation CenterChangchun 130033China institute of Soybean Research Heilongjiang Provincial Academy of Agricultural SciencesHarbin 150086China Depatment of Environmental and Plant biology Ohio UniversityAthensOhio 45701USA

Flowering time and maturity are crucial agronomic traits that affect the regional adaptability of soybean *** development of soybean cultivars with early maturity adapted to longer days and colder climates of high latitudes is very important for ensuring normal ripening before frost *** belongs to the MADS-box transcription factor family and has several duplicated members in *** this study,we observed that overexpression of GmFULc in the Dongnong 50 cultivar promoted soybean maturity,while GmFULc knockout mutants exhibited late *** immunoprecipitation sequencing(ChIP-seq)and RNA sequencing(RNA-seq)revealed that GmFULc could bind to the CArG,bHLH and homeobox *** investigation revealed that GmFULc could directly bind to the CArG motif in the promoters of the GmZTL3 and GmZTL4 *** of GmZTL4 promoted soybean maturity,whereas the ztl4 mutants exhibited delayed ***,we found that the cis element box 4 motif of the GmZTL4 promoter,a motif of light response elements,played an important role in controlling the growth *** of this motif shortened the growth period by increasing the expression levels of *** investigations revealed that short-day treatment promoted the binding of GmFULc to the promoter of GmZTL4 and inhibited the expression of E1 and E1Lb,ultimately resulting in the promotion of flowering and early *** together,these findings suggest a novel photoperiod regulatory pathway in which GmFULc directly activates GmZTL4 to promote earlier maturity in soybean.

关键词： flowering time GmFULc GmZTL4 maturity photoperiod

Astrocytes dynamically regulate the blood-brain barrier in the healthy brain

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Neural Regeneration Research 2024年第4期19卷 709-710页

作者： AgnėPociūtė Augustas Pivoriūnas Alexei Verkhratsky Department of Stem cell biology State Research Institute Centre for Innovative MedicineVilniusLithuania Faculty of biology Medicine and HealthThe University of ManchesterManchesterUK Achucarro Centre for Neuroscience IKERBASQUEBasque Foundation for ScienceBilbaoSpain Department of Forensic Analytical Toxicology School of Forensic MedicineChina Medical UniversityShenyangLiaoning ProvinceChina

The blood-brain barrier(BBB)(discovered and defined by Max Lewandowsky and Lina Stern,and not,as it is universally,and yet erroneously believed,by Paul Ehrlich(Verkhratsky and Pivoriunas,2023))that separates the nervous system from the circulation is evolutionarily conserved from arthropods to *** primeval BBB of the invertebrates and some early vertebrates was made solely by glial cells and secured(in invertebrates)by septate junctions.

关键词： Ehrlich barrier blood

CRISPR-based genetic screens advance cancer immunology

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Science China Life Sciences 2024年

作者： Yuanfang Cao Xueting Li Yumu Pan Huahe Wang Siyu Yang Lingjuan Hong Lupeng Ye institute of Modern biology Nanjing University

CRISPR technologies have revolutionized research areas ranging from fundamental science to translational medicine. CRISPR-based genetic screens offer a powerful platform for unbiased screening in various fields, such as cancer immunology. Immune checkpoint blockade(ICB)therapy has been shown to strongly affect cancer treatment. However, the currently available ICBs are limited and do not work in all cancer patients. Pooled CRISPR screens enable the identification of previously unknown immune regulators that can regulate T-cell activation,cytotoxicity, persistence, infiltration into tumors, cytokine secretion, memory formation, T-cell metabolism, and CD4+T-cell *** novel targets can be developed as new immunotherapies or used with the current ICBs as new combination therapies that may yield synergistic efficacy. Here, we review the progress made in the development of CRISPR technologies, particularly technological advances in CRISPR screens and their application in novel target identification for immunotherapy.

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Gapless Genome Assembly of ZH8015 and Preliminary Multi-Omics Analysis to Investigate ZH8015's Responses Against Brown Planthopper Infestation

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Rice science 2024年第3期31卷 317-327,I0042-I0045页

作者： LI Dian DUAN Wenjing LIU Qun’en WU Weixun ZHAN Xiaodeng SUN Lianping ZHANG Yingxin CHENG Shihua State Key Laboratory of Rice biology and Breeding China National Rice Research InstituteHangzhou 310006China

Accurate genomic information is essential for advancing genetic breeding research in specific rice *** study presented a gapless genome assembly of the indica rice cultivar Zhonghui 8015(ZH8015)using Pac Bio HiFi,Hi-C,and ONT(Oxford Nanopore Technologies)ultra-long sequencing technologies,annotating 43037 gene ***,utilizing this genome along with transcriptomic and metabolomic techniques,we explored ZH8015's response to brown planthopper(BPH)*** transcriptomic sampling indicated significant changes in gene expression levels around 48 h after BPH *** analysis revealed particularly significant alterations in genes related to reactive oxygen species scavenging and cell wall *** results demonstrated marked increases in levels of several monosaccharides,which are components of the cell wall and dramatic changes in flavonoid *** association analysis identified differentially expressed genes associated with key metabolites,shedding light on ZH8015's response to BPH *** summary,this study constructed a reliable genome sequence resource for ZH8015,and the preliminary multi-omics results will guide future insect-resistant breeding research.

关键词： brown planthopper gapless genome genome assembly multi-omics Nilaparvata lugens rice

Enhancement of endogenous midbrain neurogenesis by microneurotrophin BNN-20 after neural progenitor grafting in a mouse model of nigral degeneration

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Neural Regeneration Research 2024年第6期19卷 1318-1324页

作者： Theodora Mourtzi Nasia Antoniou Christina Dimitriou Panagiotis Gkaravelas Georgia Athanasopoulou Panagiota Nti Kostantzo Olga Stathi Efthymia Theodorou Maria Anesti Rebecca Matsas Fevronia Angelatou Georgia Kouroupi Ilias Kazanis Laboratory of Developmental biology Department of Biology University of Patras Laboratory of cellular and Molecular Neurobiology-Stem cells Hellenic Pasteur Institute 3. Department of Physiology School of Medicine University of Patras

We have previously shown the neuroprotective and pro-neurogenic activity of microneurotrophin BNN-20 in the substantia nigra of the “weaver” mouse, a model of progressive nigrostriatal degeneration. Here, we extended our investigation in two clinically-relevant ways. First, we assessed the effects of BNN-20 on human induced pluripotent stem cell-derived neural progenitor cells and neurons derived from healthy and parkinsonian donors. Second, we assessed if BNN-20 can boost the outcome of mouse neural progenitor cell intranigral transplantations in weaver mice, at late stages of degeneration. We found that BNN-20 has limited direct effects on cultured human induced pluripotent stem cell-derived neural progenitor cells, marginally enhancing their differentiation towards neurons and partially reversing the pathological phenotype of dopaminergic neurons generated from parkinsonian donors. In agreement, we found no effects of BNN-20 on the mouse neural progenitor cells grafted in the substantia nigra of weaver mice. However, the graft strongly induced an endogenous neurogenic response throughout the midbrain, which was significantly enhanced by the administration of microneurotrophin BNN-20. Our results provide straightforward evidence of the existence of an endogenous midbrain neurogenic system that can be specifically strengthened by BNN-20. Interestingly, the lack of major similar activity on cultured human induced pluripotent stem cell-derived neural progenitors and their progeny reveals the in vivo specificity of the aforementioned pro-neurogenic effect.

关键词： adult neurogenesis BNN-20 brain-derived neurotrophic factor cell replacement induced pluripotent stem cells (iPSCs) neurotrophic factors Parkinson's disease substantia