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Homozygous deleterious variants in MYCBPAP induce asthenoteratozoospermia involving abnormal acrosome biogenesis,manchette structure and sperm tail assembly in humans and mice

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Science China Life Sciences 2025年第03期 777-792页

作者： Yiling Zhou Chaofeng Tu Charles Coutton Jianan Tang Shixiong Tian Shuyan Tang Guillaume Martinez Dapeng Zhou Célia Tebbakh Jiaxiong Wang Raoudha Zouari Xuehai Zhou Selima Fourati Ben Mustapha Xuemei Wang Bangguo Wu Xinyan Geng Shuang Liu Li Jin Huijuan Shi Yue-Qiu Tan Pierre F.Ray Lingbo Wang Xiaoyu Yang Feng Zhang Chunyu Liu Obstetrics and Gynecology Hospital State Key Laboratory of Genetic Engineering Institute of Medical Genetics and Genomics Fudan University Institute of Reproductive and Stem Cell Engineering NHC Key Laboratory of Human Stem Cell and Reproductive Engineering School of Basic Medical Science Central South University Clinical Research Center for Reproduction and Genetics in Hunan Province Reproductive and Genetic Hospital of CITIC-XIANGYA Université Grenoble Alpes CNRS UMR 5309 INSERM U1209 Institute for Advanced Biosciences (IAB) Site Santé–Allée des Alpes CHU Grenoble Alpes H?pital Couple-Enfant UM de Génétique Chromosomique Shanghai-MOST key laboratory of Health and Disease genomics NHC Key Lab of Reproduction Regulation Shanghai Institute for Biomedical and Pharmaceutical Technologies School of Pharmacy Fudan University Shanghai key laboratory of Metabolic Remodeling and Health Institute of Metabolism and Integrative Biology Fudan University State key laboratory of Reproductive medicine The Affiliated Suzhou Hospital of Nanjing Medical University Suzhou Municipal Hospital Polyclinique les Jasmins Centre d’Aide Médicale à la Procréation Centre Urbain Nord key laboratory of Systems Health Science of Zhejiang Province School of Life Science Hangzhou Institute for Advanced Study University of Chinese Academy of Sciences Soong Ching Ling Institute of Maternity and Child Health International Peace Maternity and Child Health Hospital Shanghai Jiao Tong University School of Medicine CHU Grenoble Alpes UM GI-DPI State key laboratory of Reproductive medicine and offspring health Clinical Center for Reproductive Medicine The First Affiliated Hospital of Nanjing Medical University Shanghai key laboratory of Embryo Original Diseases

Asthenoteratozoospermia is a common cause of male infertility. To further define the genetic causes underlying asthenoteratozoospermia, we performed whole-exome sequencing in a cohort of Han Chinese men with asthenoteratozoospermia. Homozygous deleterious variants of MYCBPAP were first identified in two unrelated Chinese cases. Replication analyses in a French cohort revealed an additional asthenoteratozoospermia-affected case harboring a homozygous nonsense variant in MYCBPAP. All of the identified MYCBPAP variants were absent or extremely rare in the public human genome databases. Further functional assays indicated remarkably reduced abundance of MYCBPAP in the spermatozoa from MYCBPAP-associated cases. Subsequently, we generated a Mycbpap knockout(Mycbpap-/-) mouse model, which also exhibited male infertility with reduced sperm motility and abnormal morphologies in sperm heads and flagella. Further investigations demonstrated that Mycbpap-/-male mice presented disrupted acrosome biogenesis and abnormally elongated manchette during ***, proteomic analyses indicated that the proteins related to spermatogenesis, acrosomal and flagellar functions were significantly down-regulated in the testes from Mycbpap-/-male mice. Endogenous immunoprecipitation combined with mass spectrometry revealed interactions of MYCBPAP with a ribosome elimination related protein ARMC3 and central apparatus proteins including CFAP65 and ***, MYCBPAP-associated male infertility in humans and mice could be partially overcome by using intracytoplasmic sperm injections. Collectively, these findings illustrate the essential role of MYCBPAP in normal spermatogenesis and homozygous deleterious variants in MYCBPAP can be considered as a genetic diagnostic indicator for infertile men with asthenoteratozoospermia. Our study will provide effective guidance for genetic counseling, clinical diagnosis and assisted reproduction treatments of MYCBPAP-associated male

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PEGylated mBPEI-rGO nanocomposites facilitate hepotocarcinoma treatment combining photothermal therapy and chemotherapy

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Science Bulletin 2018年第14期63卷 935-946页

作者： Chunyi Tong Xizhi Zhang Jialong Fan Bin Li Bin Liu Muhammad Daniyal Wei Wang College of Biology Hunan Province Key Laboratory of Plant Functional Genomics and Developmental RegulationHunan University TCM and Ethnomedicine Innovation&Development laboratory School of PharmacyHunan University of Chinese Medicine

Despite chemotherapy has been widely used for tumor therapy, the serious side effect is still a major challenge. Recently, two dimensional nanomaterial-based drug delivery systems have attracted wide concern due to their high drug loading and low side effect. In addition, some kinds of nanomaterials can directly act as a photosensitizer to induce cancer destruction. In this study, we developed a drug delivery system of mixture of high/low molecular weight branched polyethylenimine-polyethylene glycol-reduced graphene oxide(mBPEI-PEG-rGO) using reduced graphene oxide as matrix. A model drug of doxorubicin(DOX) was loaded on the nanocomposites with the efficiency of 81% and the release rate of more than 50% at acidic environment. In vitro experiments indicated that mBPEI-PEG-rGO-DOX with enhanced stability and biocompatibility efficiently delivered and released DOX into cells mainly through micropinocytosis and killed SMMC-7721 cells by inducing reactive oxygen species(ROS) and cell apoptosis. Furthermore, in vivo experiments indicated that the combination of intratumoral injection of mBPEI-PEG-rGO-DOX and local laser irradiation nearly ablated hepatocarcinoma. In conclusion, this new drug delivery system provided an alternative for combinational photothermal and chemotherapy against hepatocarcinoma.

关键词： Reduced graphene oxide Branched polyethylenimine Doxorubicin Drug delivery Phototherapy

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The Global Landscape of SARS-CoV-2 Genomes, Variants, and Haplotypes in 2019nCoVR

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genomics, Proteomics & Bioinformatics 2020年第6期18卷 749-759页

作者： Shuhui Song Lina Ma Dong Zou Dongmei Tian Cuiping Li Junwei Zhu Meili Chen Anke Wang Yingke Ma Mengwei Li Xufei Teng Ying Cui Guangya Duan Mochen Zhang Tong Jin Chengmin Shi Zhenglin Du Yadong Zhang Chuandong Liu Rujiao Li Jingyao Zeng Lili Hao Shuai Jiang Hua Chen Dali Han Jingfa Xiao Zhang Zhang Wenming Zhao Yongbiao Xue Yiming Bao China National Center for Bioinformation Beijing 100101China National genomics Data Center Beijing Institute of GenomicsChinese Academy of SciencesBeijing 100101China CAS key laboratory of Genome Sciences and Information Beijing Institute of GenomicsChinese Academy of SciencesBeijing 100101China University of Chinese Academy of Sciences Beijing 100049China CAS key laboratory of Genomic and precision medicine Beijing Institute of GenomicsChinese Academy of SciencesBeijing 100101China Center for Excellence in Animal Evolution and Genetics Chinese Academy of SciencesKunming 650223China

On January 22,2020,China National Center for Bioinformation(CNCB)released the 2019 Novel Coronavirus Resource(2019nCoVR),an open-access information resource for the severe acute respiratory syndrome coronavirus 2(SARS-CoV-2).2019nCoVR features a comprehensive integration of sequence and clinical information for all publicly available SARS-CoV-2 isolates,which are manually curated with value-added annotations and quality evaluated by an automated in-house *** particular note,2019nCoVR offers systematic analyses to generate a dynamic landscape of SARS-CoV-2 genomic variations at a global *** provides all identified variants and their detailed statistics for each virus isolate,and congregates the quality score,functional annotation,and population frequency for each *** change for each variant can be visualized and historical viral haplotype network maps for the course of the outbreak are also generated based on all complete and high-quality genomes ***,2019nCoVR provides a full collection of SARS-CoV-2 relevant literature on the coronavirus disease 2019(COVID-19),including published papers from PubMed as well as preprints from services such as bioRxiv and medRxiv through Europe ***,by linking with relevant databases in CNCB,2019nCoVR offers data submission services for raw sequence reads and assembled genomes,and data sharing with ***,SARS-CoV-2 is updated daily to collect the latest information on genome sequences,variants,haplotypes,and literature for a timely reflection,making 2019nCoVR a valuable resource for the global research community.2019nCoVR is accessible at https://***/ncov/.

关键词： 2019nCoVR SARS-CoV-2 Database Genomic variation Haplotype

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Deep pedigree analysis reveals family specific ‘‘fingerprint” pattern of DNA methylation for men

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Science Bulletin 2018年第1期63卷 7-10页

作者： Guochao Li Minjie Zhang Hua Chen Ke An Zongzhi Liu Fengxia Du Caiyun Yang Xiao Han Li Jin Hui Li Yan Zhang Jie Qiao Yingli Sun key laboratory of Genomic and precision medicine China Gastrointestinal Cancer Research Center. Beijing Institute of Genomics Chinese Academy of Sciences Beijing 100101 China University of Chinese Academy of Sciences Beijing 100049 China Center for Computational genomics Beijing Institute of Genomics Chinese Academy of Sciences Beijing 100101 China State key laboratory of Genetic Engineering and MOE key laboratory of Contemporary Anthropology School of Life Sciences Fudan University Shanghai 200433 China College of Bioinformatics Science and Technology Harbin Medical University Harbin 150081 China Reproductive Medical Center Department of Obstetrics and Gynecology Peking University Third Hospital Beijing Key Laboratory of Assisted Beijing 100191 China

DNA methylation plays an essential role in mammalian development[1].However,how DNA methylation is inherited between generations and if there is family-specific DNA methylation pattern remains to be elucidated[2].In this study,we collect male blood samples including a big pedigree of the descendants of an ancient Chinese empire and samples from different haplogroups to study their whole genome DNA methylation *** find 115 male family-specific methylation sites from three *** difference of whole genome DNA methylation pattern correlates

关键词：家庭成员 DNA 谱分析哺乳动物染色体样品关联

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An RNA-seq-based Gene Expression Profiling of Radiation-induced Tumorigenic Mammary Epithelial Cells

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genomics, Proteomics & Bioinformatics 2012年第6期10卷 326-335页

作者： Lina Ma Linghu Nie Jing Liu Bing Zhang Shuhui Song Min Sun Jin Yang Yadong Yang Xiangdong Fang Songnian Hu Yongliang Zhao Jun Yu CAS key laboratory of Genome Sciences and Information Beijing Institute of Genomics Chinese Academy of Sciences laboratory of Disease genomics and Individualized medicine Beijing Institute of Genomics Chinese Academy of Sciences Center for Radiological Research Columbia University

Immortality and tumorigenicity are two distinct characteristics of cancers. Immortalization has been suggested to precede tumorigenesis. To understand the molecular mechanisms of tumorigenicity and cancer progression in mammary epithelium, we established a tumori- genic cell model by means of heavy-ion radiation of an immortal cell model, which was created by overexpressing the human telomerase reverse transcriptase （hTERT） in normal human mammary epithelial cells. We examined the expression profile of this tumorigenic cell line （T hMEC） using the hTERT-overexpressing immortal cell line （IhMEC） as a control. In-depth RNA-seq data was generated by using the next-generation sequencing （NGS） platform （Life Technologies SOLID3）. We found that house-keeping （HK） and tissue-spe- cific （TS） genes were differentially regulated during the tumorigenic process. HK genes tended to be activated while TS genes tended to be repressed. In addition, the HK genes and TS genes tended to contribute differentially to the variation of gene expression at different RPKM （gene expression in reads per exon kilobase per million mapped sequence reads） levels. Based on transcriptome analysis of the two cell lines, we defined 7053 differentially-expressed genes （DEGs） between immortality and tumorigenicity. Differential expression of 20 manually-selected genes was further validated using qRT-PCR. Our observations may help to further our understanding of cellular mechanism（s） in the transition from immortalization to tumorigenesis.

关键词： NGS RNA-seq Tumorigenicity Immortality Radiation Breast cancer

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A Long Type of TBCK Is a Novel Cytoplasmic and Mitotic Apparatus-Associated Protein Likely Suppressing Cell Proliferation

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Journal of Genetics and genomics 2014年第2期41卷 69-72页

作者： Jin Wu Qianyi Li Yan Li Jing Lin Dong Yang Guixin Zhu Limin Wang Dacheng He Guanting Lu Changqing Zeng laboratory of Disease genomics and Individualized medicine Beijing Institute of GenomicsChinese Academy of Sciences University of Chinese Academy of Sciences key laboratory for Cell Proliferation and Regulation of the Ministry of Education Beijing Normal University

Autoantibodies from patients with various connective tissue diseases have been shown to be specific probes that can detect cellular structures, including centrosome, centromere/kineto- chore, spliceosome, Golgi comple... 详细信息

关键词： Cell TBC A Long Type of TBCK Is a Novel Cytoplasmic and Mitotic Apparatus-Associated Protein Likely Suppressing Cell Proliferation

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Rh(Ⅲ)-catalyzed annulation of azobenzenes and α-Cl ketones toward 3-acyl-2H-indazoles

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Chinese Chemical Letters 2021年第5期32卷 1709-1712页

作者： Huan Li Yuxuan Han Zi Yang Zhenyu Yao Lianhui Wang Xiuling Cui Engineering Research Centre of Molecular medicine of Ministry of Education Key Laboratory of Fujian Molecular Medi-cineKey Laboratory of Precision Medicine and Molecular Diagnosis of Fujian UniversitiesKey Laboratory of Xiamen Marine and Gene DrugsSchool of Biomedical SciencesHuaqiao UniversityXiamen 361021China

Rhodium(Ⅲ)-catalyzed[4+1]cyclization of azobenzenes with α-Cl ketones has been developed.3-Acyl-2H-indazoles could be easily afforded in up to 97%yields for more than 30 *** obtained products are potentially valuable in organic synthesis and drug *** protocol featured with high efficiency,extensive functional group tolerance and mild reaction *** one-step efficient construction of an anti-inflammatory agent confirms the practicability of this procedure.

关键词： Rh(Ⅲ)-catalyzed C-H activation/cyclization α-Cl Ketones 3-Acyl-2H-indazoles

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Effect of Huaier granule on prognosis of breast cancer: A single-center propensity score matching retrospective study

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中华医学杂志(英文版) 2025年第1期138卷 2024 Jan 25页

作者： Guo Qianqian Peng Yuting Zhang Ge Lin Huan Chen Qianjun Breast Department Guangdong Provincial Hospital of Chinese Medicine The Second Affiliated Hospital of Guangzhou University of Chinese Medicine Guangdong Provincial Academy of Chinese Medical Sciences Guangzhou Guangdong China The Second Clinical College Guangzhou University of Chinese Medicine Guangzhou Guangdong China Law Sau Fai Institute for Advancing Translational medicine in Bone and Joint Diseases (TMBJ) School of Chinese Medicine Hong Kong Baptist University Hong Kong China Guangdong-Hong Kong-Macao Greater Bay Area International Research Platform for Aptamer-based Translational medicine and Drug Discovery (HKAP) Hong Kong China Institute of precision medicine and Innovative Drug Discovery (PMID) School of Chinese Medicine Hong Kong Baptist University Hong Kong China Institute of Integrated Bioinformedicine and Translational Science (IBTS) School of Chinese Medicine Hong Kong Baptist University Hong Kong China Northwestern Polytechnical University-Hong Kong Baptist University United Research Center of Space Musculoskeletal Health Shenzhen Guangdong China State key laboratory of Traditional Chinese medicine Syndrome The Second Affiliated Hospital of Guangzhou University of Chinese Medicine Guangdong Provincial Hospital of Chinese Medicine Guangdong Provincial Academy of Chinese Medical Sciences Guangzhou Guangdong China

Background: Huaier granule is an important medicinal fungus extract widely used in cancer treatment. Previous retrospective studies have reported its effectiveness in breast cancer patients, but the imbalanced baseline characteristics of participants could have biased the results. Therefore, this retrospective study aimed to examine the efficacy of Huaier granule on the prognosis of breast cancer ***: In this single-center cohort study, breast cancer patients diagnosed and treated at the Guangdong Provincial Hospital of Chinese medicine between 2009 and 2017 were selected. The data were retrospectively analyzed and divided into two groups according to whether the patients received Huaier granules. The propensity score matching (PSM) method was used to eliminate selection bias. The disease-free survival (DFS) and overall survival (OS) for these groups were compared using the Kaplan–Meier method and the Cox ***: This study included 214 early invasive breast cancer patients, 107 in the Huaier group and 107 in the control group. In the Kaplan–Meier analysis, the 2-year and 5-year DFS rates were significantly different in the Huaier group and control group (hazard ratio [HR], 0.495; 95% confidence interval [CI], 0.257–0.953;P = 0.023). The 2-year and 5-year OS rates were also significantly different (HR, 0.308; 95% CI, 0.148–0.644;P = 0.001). On multivariable Cox regression, Huaier granule was associated with improved DFS (HR, 0.440; 95% CI, 0.223–0.868;P = 0.018) and OS (HR, 0.236; 95% CI, 0.103–0.540;P = 0.001).Conclusion: In this retrospective study, Huaier granules improved the DFS and OS of early invasive breast cancer patients, providing real-world evidence for further prospective studies on treating breast cancer with Huaier granules.

关键词： Breast cancer Prognosis Huaier granule Propensity score matching Retrospective study Clinical study

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Cocktail of chemical compounds robustly promoting cell reprogramming protects liver against acute injury

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Protein & Cell 2017年第4期8卷 273-283页

作者： Yuewen Tang Lin Cheng State key laboratory of Medical genomics Shanghai Institute of Hematology Rui Jin Hospital Shanghai Jiao Tong UniversitySchool of Medicine Shanghai 200025 China

Tissue damage induces cells into reprogramming-like cellular state, which contributes to tissue regeneration. However, whether factors promoting the cell repro- gramming favor tissue regeneration remains elusive. Here we identified combination of small chemical com- pounds including drug cocktails robustly promoting in vitro cell reprogramming. We then administrated the drug cocktails to mice with acute liver injuries induced by partial hepatectomy or toxic treatment. Our results demonstrated that the drug cocktails which promoted cell reprogramming in vitro improved liver regeneration and hepatic function in vivo after acute injuries. The underlying mechanism could be that expression of pluripotent genes activated after injury is further upregulated by drug cocktails. Thus our study offers proof-of-concept evidence that cocktail of clinical com- pounds improving cell reprogramming favors tissue recovery after acute damages, which is an attractive strategy for regenerative purpose.

关键词： cell reprogramming chemical compounds,liver regeneration

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Evolutionary transition between invertebrates and vertebrates via methylation reprogramming in embryogenesis

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National Science Review 2019年第5期6卷 993-1003页

作者： Xiaocui Xu Guoqiang Li Congru Li Jing Zhang Qiang Wang David K.Simmons Xuepeng Chen Naveen Wijesena Wei Zhu Zhanyang Wang Zhenhua Wang Bao Ju Weimin Ci Xuemei Lu Daqi Yu Qian-fei Wang Neelakanteswar Aluru Paola Oliveri Yong E.Zhang Mark Q.Martindale Jiang Liu CAS key laboratory of Genome Sciences and Information Beijing Institute of Genomics Chinese Academy of Sciences University of Chinese Academy of Sciences Institute of Apiculture Research Chinese Academy of Agriculture Sciences Whitney laboratory for Marine Bioscience University of Florida College of Life Sciences Yantai University CAS key laboratory of genomics and precision medicine Beijing Institute of Genomics Chinese Academy of Sciences Institute of Zoology Chinese Academy of Sciences Biology Department Woods Hole Oceanographic Institution Departments of Genetics Evolution and Environment and Cell and Developmental Biology University College London CAS Center for Excellence in Animal Evolution and Genetics Chinese Academy of Sciences

Major evolutionary transitions are enigmas, and the most notable enigma is between invertebrates and vertebrates, with numerous spectacular *** search for the molecular connections involved, we asked whether global epigenetic changes may offer a clue by surveying the inheritance and reprogramming of parental DNA methylation across *** focused on gametes and early embryos, where the methylomes are known to evolve divergently between fish and ***, we find that methylome reprogramming during embryogenesis occurs neither in pre-bilaterians such as cnidarians nor in protostomes such as insects, but clearly presents in deuterostomes such as echinoderms and invertebrate chordates, and then becomes more evident in *** association analysis suggests that DNA methylation reprogramming is associated with development, reproduction and adaptive immunity for vertebrates, but not for ***, the single HOX cluster of invertebrates maintains unmethylated status in all stages *** contrast, the multiple HOX clusters show dramatic dynamics of DNA methylation during vertebrate ***, the methylation dynamics of HOX clusters are associated with their spatiotemporal expression in *** study reveals that DNA methylation reprogramming has evolved dramatically during animal evolution, especially after the evolutionary transitions from invertebrates to vertebrates, and then to mammals.

关键词： DNA methylation evolution development reprogramming

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