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A mutation in TBXT causes congenital vertebral malformations in humans and mice

Journal of Genetics and Genomics 2024年第4期51卷 433-442页

作者： Shuxia Chen Yunping Lei Yajun Yang Chennan Liu Lele Kuang Li Jin Richard HFinnell Xueyan Yang Hongyan Wang Obstetrics and Gynecology Hospital State Key Laboratory of Genetic Engineering at School of Life SciencesKey Laboratory of Reproduction Regulation of NPFPCInstitute of Reproduction and DevelopmentFudan UniversityShanghai 200438China Shanghai Key Laboratory of Metabolic Remodeling and Health Institute of Metabolism and Integrative BiologyFudan UniversityShanghai 200438China Center for Precision Environmental Health Department of Molecular and Cellular BiologyBaylor College of MedicineHoustonTX 77030USA MOE Key Laboratory of Contemporary Anthropology School of Life SciencesFudan UniversityShanghai 200438China Department of Assisted Reproduction Xinhua HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghai 200092China Children’s Hospital Fudan University399 Wanyuan RoadShanghai 201102China

T-box transcription factor T(TBXT;T)is required for mesodermal formation and axial skeletal *** it has been extensively studied in various model organisms,human congenital vertebral malformations(CVMs)involving T are not well ***,we report a family with 15 CVM patients distributed across 4 *** affected individuals carry a heterozygous mutation,T c.596A>G(p.Q199R),which is not found in unaffected family members,indicating co-segregation of the genotype and *** vitro assays show that T p.Q199R increases the nucleocytoplasmic ratio and enhances its DNA-binding affinity,but reduces its transcriptional activity compared to the *** determine the pathogenicity of this mutation in vivo,we generated a Q199R knock-in mouse model that recapitulates the human CVM *** heterozygous Q199R mice show subtle kinked or shortened tails,while homozygous mice exhibit tail filaments and severe vertebral ***,we show that the Q199R mutation in T causes CVM in humans and mice,providing previously unreported evidence supporting the function of T in the genetic etiology of human CVM.

关键词： Congenital vertebral malformation TBXT T gene Loss-of-function mutation

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Calcineurin inactivation inhibits pyruvate dehydrogenase complex activity and induces the Warburg effect (vol 40, pg 6692, 2021)

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ONCOGENE 2025年第8期44卷 559-560页

作者： Zhang, Jianong Zhang, Liang Nie, Ji Lin, Yan Li, Yao Xu, Wei Zhao, Jian-Yuan Zhao, Shi-Min Wang, Chenji Obstetrics & Gynecology Hospital of Fudan University State Key Laboratory of Genetic Engineering MOE Engineering Research Center of Gene Technology Key Laboratory of Reproduction Regulation of NPFPC (SIPPR IRD) School of Life Sciences Fudan University Shanghai 200438 China Shanghai Fifth People’s Hospital and Institutes of Biomedical Sciences Fudan University Shanghai 200032 China State Key Laboratory of Genetic Engineering School of Life Sciences Fudan University Shanghai 200438 China

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LncRNA-AP006284.1 promotes prostate cancer cell growth and motility by forming RNA-DNA triplexes and recruiting GNL3/SFPQ complex to facilitate RASSF7 transcription

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Genes & Diseases 2023年第2期10卷 317-320页

作者： Yali Lu Yan Lin Xiaoyang Zhang Jun Yan Zhe Kong Lu Zhang Chenji Wang Yan Huang Shimin Zhao Yao Li Obstetrics and Gynecology Hospital State Key Laboratory of Genetic EngineeringMOE Engineering Research Center of Gene TechnologySchool of Life ScienceFudan UniversityShanghai 200433China Shanghai Engineering Research Center of Industrial Microorganisms School of Life ScienceFudan UniversityShanghai 200433China Institute of Metabolism and Integrative Biology (IMIB) Key Laboratory of Reproduction Regulation of NPFPCFudan UniversityShanghai 200433China Institutes of Biomedical Sciences Fudan UniversityShanghai 200433China Department of Laboratory Animal Science Fudan UniversityShanghai 200032China

Long noncoding RNAs(lncRNAs)are known to be involved in transcriptional regulation and their deregulation is associated with the development of human diseases such as cancer.1,2 LncRNA can directly bind to purine-rich double-stranded DNA sequences through Hoogsteen base pairing to form an RNA-DNA triplex motifs and regulate gene expression.3,4,5 However,its regulatory mechanisms and functions in tumors remain ***,we report that the LMNTD2 antisense RNA 1(LMNTD2-AS1,also known as AP006284.1)is highly expressed in prostate cancer(PCa)and positively correlated with the expression of its adjacent coding gene N-terminal Ras-association domain family 7(RASSF7).Mechanistically,AP006284.1 tethers to the RASSF7 promoter via RNA-DNA triplexes in cis-acting manner,which enhances chromatin accessibility and recruits the transcription factor complex GNL3/SFPQ to activate the expression of RASSF7,a repressor of the Hippo signaling ***,overexpression of either AP006284.1 or RASSF7 inactivated the Hippo signaling and malignant proliferation of PCa cells.

关键词： expression LncRNA cancer

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The mechanisms by which trophoblast-derived molecules induce maternal-fetal immune tolerance

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中国免疫学杂志（英文版） 2020年第1期17卷 930-933页

作者： Xiao-Qiu Wang Da-Jin Li Laboratory for Reproductive Immunology Key Laboratory of Reproduction Regulation of NPFPCSIPPRShanghai Key Laboratory of Female Reproductive Endocrine Related DiseasesHospital and Institute of Obstetrics and GynecologyIRDFudan University Shanghai Medical CollegeShanghaiChina

A successful pregnancy requires the maternal immune system to recognize and tolerate the allogeneic fetus while maintaining defense against infection both systemically and in placental *** the maternal-fetal interface,the trophoblasts in the placenta play an essential role in the suppression of maternal immune rejection of the *** ensure maternal-fetal tolerance and successful placentation,delicate crosstalk is established among fetus-derived trophoblasts,maternal immune cells,and decidual stromal cells(DSCs)during normal *** immune cells not only participate in the maintenance of immune tolerance but also regulate the function of trophoblasts to promote fetal *** imbalance in this crosstalk may lead to adverse pregnancy outcomes,such as recurrent spontaneous abortion,preeclampsia,preterm birth,intrauterine growth restric-tion,and *** we outline some of the important discoveries in recent years related to the mechanisms by which trophoblast-derived molecules induce maternal-fetal immune tolerance.

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MicroRNA-543 in Systemic Diseases and Possible Applications in Gynecologic Tumors

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Reproductive and Developmental Medicine 2021年第2期5卷 107-118页

作者： Yan-Ran Sheng Wen-Ting Hu Chun-Yan Wei Yu-Kai Liu Yu-Yin Liu Xiao-Yong Zhu Laboratory for Reproductive Immunology Hospital of Obstetrics and GynecologyFudan UniversityShanghai 200090China Key Laboratory of Reproduction Regulation of NPFPC SIPPRIRDFudan UniversityShanghai 200032China Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases Shanghai 200090China

In recent years,an increasing number of young women have been diagnosed with cancer,including some nulliparous ***,many young patients with early-stage cancer desire to preserve fertility after cytotoxic oncological *** is important to develop a multidisciplinary approach to achieve the best outcomes for each *** the other hand,there has been a sharp increase in microRNAs(miRNAs)as potential biomarkers for the diagnosis,prognosis,and evaluation of treatment efficacy of several ***-543 has been reported to affect the pathogenesis and progression of diseases via complex *** the regulatory role of miR-543 may aid comprehension of the pathogenesis and treatment of a broad range of ***,we provide an overview of the biogenesis,function,and role of miR-543 in various *** results shed light on the anticancer and endometrial protection role of miR-543 in young patients with gynecologic tumors and highlight the clinical potential of miR-543-based applications and related challenges.

关键词： Endometrial Receptivity Gynecological Oncology MicroRNA-543 Pathway Target

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Ketogenic diets inhibit mitochondrial biogenesis and induce cardiac fibrosis

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Signal Transduction and Targeted Therapy 2021年第3期6卷 875-887页

作者： Sha Xu Hui Tao Wei Cao Li Cao Yan Lin Shi-Min Zhao Wei Xu Jing Cao Jian-Yuan Zhao Zhongshan Hospital of Fudan University Obstetrics&Gynecology Hospital of Fudan UniversityState Key Lab of Genetic EngineeringSchool of Life SciencesKey Laboratory of Reproduction Regulation of NPFPCand Institutes of Biomedical SciencesFudan University200438 ShanghaiChina Collaborative Innovation Center for Biotherapy West China HospitalSichuan University610041 ChengduChina Department of Cardiothoracic Surgery Second Hospital of Anhui Medical Universityand Cardiovascular Research CenterAnhui Medical University230601 HefeiChina Department of Anatomy and Neuroscience Research Institute School of Basic Medical SciencesZhengzhou University450001 ZhengzhouChina

In addition to their use in relieving the symptoms of various diseases,ketogenic diets(KDs)have also been adopted by healthy individuals to prevent being ***,we reported that prolonged KD exposure induced cardiac *** rats,KD or frequent deep fasting decreased mitochondrial biogenesis,reduced cell respiration,and increased cardiomyocyte apoptosis and cardiac ***,increased levels of the ketone body β-hydroxybutyrate(β-OHB),an HDAC2 inhibitor,promoted histone acetylation of the Sirt7 promoter and activated Sirt7 *** in turn inhibited the transcription of mitochondrial ribosome-encoding genes and mitochondrial biogenesis,leading to cardiomyocyte apoptosis and cardiac fibrosis.

关键词： cardiac inhibited diseases

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Picropodophyllin inhibits type I endometrial cancer cell proliferation via disruption of the PI3K/Akt pathway

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生物化学与生物物理学报（英文版） 2019年第7期51卷 753-760页

作者： Lin Dong Meirong Du Qianzhou Lv Department of Pharmacy Zhongshan Hospital Fudan University Shanghai 200032 China Laboratory for Reproductive Immunology Key Laboratory of Reproduction Regulation of NPFPC SIPPR IRD Hospital of Obstetrics and Gynecology Fudan University Shanghai Medical College Shanghai 200080 China

The type-I insulin-like growth factor receptor (IGF-IR) is overexpressed in endometrial *** IGF-IR expression was considered as an important prognostic factor for tumor *** purpose of this study was to investigate the role and molecular mechanism of IGF-IR inhibitor picropodophyllin (PPP) in the growth and development of endometrial *** expression of IGF-IR was observed in endometrial cancer tissues,as well as in ECC-1 and KLE cell *** suppressed the number of clones of ECC-1 and KLE cell lines;however,it had no significant effect on HEC-1-A cell line,which expressed lower IGF-IR than ECC-1 and KLE cell ***,PPP reduced cell proliferation capacity,inhibited the IGF-IR mRNA expression,and suppressed protein phosphorylation of IGF-IR and Akt in the three cell *** addition,PPP inhibited the protein expression of survivin in KLE cell line after 1 h of exposure,though this effect did not last for prolonged *** conclusion,IGF-IR was mostly overexpressed in type I endometrial *** IGF-IR expression was an important prognostic factor of tumor *** mediated the down-regulation of IGF-IR phosphorylation and inhibited cell proliferation via the PI3K/Akt signal *** may have the potential to become a clinical treatment target in endometrial carcinoma.

关键词： endometrial cancer picropodophyllin type-Ⅰ insulin-like growth factor receptor cell proliferation tissue chip

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Prohibitin(PHB)interacts with AKT in mitochondria to coordinately modulate sperm motility

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Asian Journal of Andrology 2020年第6期22卷 583-589页

作者： Xiao-Hui Li Ran-Ran Chai Guo-Wu Chen Ling-Fei Zhang Wen-Jing Tan-Tai Hui-Juan Shi Patricia A Martin-DeLeon Wai-Sum O Hong Chen Department of Anatomy Histology and EmbryologyKey Laboratory of Medical Imaging Computing and Computer Assisted Intervention of ShanghaiSchool of Basic Medical SciencesShanghai Medical CollegeFudan UniversityShanghai 200032China Shanghai Ji'Ai Genetics and IVF Institute Obstetrics and Gynecology HospitalInstitute of Reproduction and DevelopmentFudan UniversityShanghai 200011China Key Lab of Reproduction Regulation of NPFPC-Shanghai Institute of Planned Parenthood Research Fudan University Reproduction and Development InstitutionShanghai 200032China Department of Biological Sciences University of DelawareNewarkDE 19716-2590USA School of Biomedical Sciences The University of Hong KongHong Kong SARChina

Prohibitin(PHB),an evoluti on arily con served mitochondrial inner membra ne protein,is highly expressed in cells that require strong mitoch on drial ***,we dem on strated that the deleti on of Phb in spermatocytes results in impaired mitochondrial *** addition,PHB expression in the mitochondrial sheath of human sperm has a significantly negative correlation with mitochondrial reactive oxygen species levels,but a positive one with mitochondrial membrane potential and sperm *** results suggest that mitochondrial PHB expression plays a role in sperm ***,the mechanism of PHB-mediated regulation of sperm motility remai ns unk ***,we dem on strate for the first time that PHB interacts with protei n kinase B(AKT)and exists in a complex with phospho-PHB(pT258)and phospho-AKT in the mitochondrial sheath of murine sperm,as determined using colocalization and coimmunoprecipitation *** blocking AKT activity using wortmannin(a phosphatidylinositol 3-kinase[PI3K]inhibitor),murine sperm have significantly(P<0.05)decreased levels of phospho-PHB(pT258)and the total and progressive ***,significantly(P<0.05)lower levels of phospho-PI3K P85 subunit a+γ(pY199 and pY46)and phospho-AKT(pS473;pT308)are found in sperm from infertile asthenospermic and oligoasthenospermic men compared with no rmospermic subjects,which suggest a reduced activity of the PI3K/AKT pathway in these in fertile ***,these sperm from infertile subjects also have a significantly(P<0.05)lower level of phospho-PHB(pT258).Collectively,our findings suggest that the interaction of PHB with AKT in the mitochondrial sheath is critical for sperm motility,where PHB phosphorylation(pT258)level and PI3K/AKT activity are key regulatory factors.

关键词： male in fertility prohibitin(PHB) protein kinase B(AKT) sperm motility

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Threshold for neural tube defect risk by accumulated singleton loss-of-function variants (vol 28, pg 1039, 2018)

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CELL RESEARCH 2021年第4期31卷 488-488页

作者： Chen, Zhongzhong Lei, Yunping Zheng, Yufang Aguiar-Pulido, Vanessa Ross, M. Elizabeth Peng, Rui Jin, Li Zhang, Ting Finnell, Richard H. Wang, Hongyan Obstetrics and Gynecology Hospital State Key Laboratory of Genetic Engineering at School of Life Sciences Institute of Reproduction and Development Fudan University Shanghai 200011 China Key Laboratory of Reproduction Regulation of NPFPC Collaborative Innovation Center of Genetics and Development Fudan University Shanghai 200032 China Institute of Developmental Biology & Molecular Medicine Fudan University Shanghai 200433 China Children’s Hospital Fudan University Shanghai 201102 China Institutes of Biomedical Sciences Fudan University Shanghai 200032 China Departments of Molecular and Cellular Biology and Medicine Baylor College of Medicine Houston TX 77030 USA Center for Neurogenetics Weill Cornell Medicine New York NY 10021 USA Capital Institute of Pediatrics Beijing 100020 China

A Correction to this paper has been published: https://***/10.1038/s41422-021-00475-z

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Roles of Regulatory T Cells in Pathogenesis of Endometriosis

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Reproductive and Developmental Medicine 2019年第2期3卷 117-123页

作者： Xin-Xin Hou Xiao-Qiu Wang Da-Jin Li Laboratory for Reproductive Immunology Key Laboratory of Reproduction Regulation of NPFPCSIPPRShanghaiChina Laboratory for Reproductive Immunology Shanghai Key Laboratory of Female Reproductive Endocrine Related DiseasesHospital and Institute of Obstetrics and GynecologyIRDFudan University Shanghai Medical CollegeShanghaiChina

Numerous studies have shown aberrant immune cell function in endometriosis,including T cells,B cells,natural killer cells,and macrophages(MΦ).These alterations are thought to be induced by various mechanisms that promote the *** T cells(Tregs)may account for a decreased ability of newly recruited leukocytes to initiate effective immune responses against viable endometrial fragments,permitting their *** differentiate during the development of endometriosis,which confer immunosuppression or play other roles in disease *** this review,we provide an overview of the regulation and roles of Tregs in *** data provide further scientific evidence for the altered immune response in endometriosis,which could be a potential target in the treatment of *** review could create new diagnostic strategies and effective immune-targeted therapies for this highly prevalent *** progress in the field indicates that these goals may be achieved in the future.

关键词： Endometrial Stromal Cells Endometriosis Fibrinogen-Like Protein 2 Regulatory T Cells

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