Science China Life Sciences最新文献

{"title":"Profile of Dr. Shaorong Gao.","authors":"","doi":"10.1007/s11427-024-2689-5","DOIUrl":"https://doi.org/10.1007/s11427-024-2689-5","url":null,"abstract":"","PeriodicalId":21576,"journal":{"name":"Science China Life Sciences","volume":" ","pages":""},"PeriodicalIF":8.0,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441807","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mitochondrial antigens: their presentation and related diseases.","authors":"Shiyang Zhang, Shicheng Su","doi":"10.1007/s11427-024-2781-x","DOIUrl":"https://doi.org/10.1007/s11427-024-2781-x","url":null,"abstract":"","PeriodicalId":21576,"journal":{"name":"Science China Life Sciences","volume":" ","pages":""},"PeriodicalIF":8.0,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458802","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reanalysis of whole genome sequencing ends a diagnostic Odyssey of neurodevelopmental disorders caused by RNU4-2 variants.","authors":"Shiqi Fan, Shuanghao Yang, Miao Sun, Weiyue Gu, Xue Zhang","doi":"10.1007/s11427-024-2829-2","DOIUrl":"https://doi.org/10.1007/s11427-024-2829-2","url":null,"abstract":"","PeriodicalId":21576,"journal":{"name":"Science China Life Sciences","volume":" ","pages":""},"PeriodicalIF":8.0,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Stem cell-based embryo models: a tool to study early human development.","authors":"Baojiang Wu, Jitesh Neupane, Yang Zhou, Jingcheng Zhang, Yanglin Chen, M Azim Surani, Yong Zhang, Siqin Bao, Xihe Li","doi":"10.1007/s11427-024-2741-1","DOIUrl":"https://doi.org/10.1007/s11427-024-2741-1","url":null,"abstract":"<p><p>How a mammalian fertilized egg acquires totipotency and develops into a full-term offspring is a fundamental scientific question. Human embryonic development is difficult to study due to limited resources, technical challenges and ethics. Moreover, the precise regulatory mechanism underlying early human embryonic development remains unknown. In recent years, the emergence of stem cell-based embryo models (SCBEM) provides the opportunity to reconstitute pre- to post-implantation development in vitro. These models to some extent mimic the embryo morphologically and transcriptionally, and thus may be used to study key events in mammalian pre- and post-implantation development. Many groups have successfully generated SCBEM of the mouse and human. Here, we provide a comparative review of the mouse and human SCBEM, discuss the capability of these models to mimic natural embryos and give a perspective on their potential future applications.</p>","PeriodicalId":21576,"journal":{"name":"Science China Life Sciences","volume":" ","pages":""},"PeriodicalIF":8.0,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"GLA deficiency causes cardiac hypertrophy via enhanced autophagy.","authors":"Wei Ou, Xi Li, Kuo Tang, Lin Ding, Tingting Sun, Qian Li, Tao Li","doi":"10.1007/s11427-023-2731-0","DOIUrl":"https://doi.org/10.1007/s11427-023-2731-0","url":null,"abstract":"<p><p>Fabry disease is a monogenic disease characterized by a deficiency or loss of α-galactosidase A (GLA). Cardiomyopathy is the leading cause of death in Fabry patients; however, a lack of understanding of the pathological mechanism impedes the development of effective therapies. Here, we used a Gla knockout (KO) mouse model and investigated its impact on cardiomyopathy. We found that globotriaosylceramide (Gb3) increased the uptake and accumulation of fatty acids in KO hearts by increasing the expression levels of CD36 and ACC2. The augmented fatty acid metabolism further increased autophagy activity, leading to age-related late-onset cardiac hypertrophy. Additionally, increased autophagy facilitates disturbances in fatty acid metabolism. The inhibition of autophagy by supplementation with 3-methyladenine (3-MA) or the overexpression of GLA by the cardiomyocyte-specific adeno-associated virus for 2 months could rebalance abnormal fatty acid metabolism and ameliorate cardiac hypertrophy and dysfunction in KO hearts, suggesting a central role of autophagy in GLA deficiency-related cardiomyopathy.</p>","PeriodicalId":21576,"journal":{"name":"Science China Life Sciences","volume":" ","pages":""},"PeriodicalIF":8.0,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449647","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inhibition of KDM6B prevents osteoarthritis by blocking growth plate-like H3K27me3 loss in bivalent genes.","authors":"Hao Du, Yao Zhang, Xi Yu, Xuanhe You, Diwei Wu, Ze Du, Yongrui Cai, Zhenyu Luo, Hanpeng Lu, Zhixin Liao, Bi-Sen Ding, Ya Zhao, Yan Wang, Ke Xiao, Fan Yang, Fangji Gan, Ning Ning, Jiancheng Zeng, Peiliang Shi, Zongke Zhou, Shishu Huang","doi":"10.1007/s11427-024-2676-y","DOIUrl":"https://doi.org/10.1007/s11427-024-2676-y","url":null,"abstract":"<p><p>Osteoarthritis (OA) is the most prevalent joint disorder occurring with articular cartilage degradation. It includes a switch from an articular to a growth plate chondrocyte phenotype. Here, we investigated the histone modification profiles and found significant H3K27me3 loss in OA, which led to disease-associated gene expression. Surprisingly, these genes were occupied by both H3K27me3 and H3K4me3 in normal chondrocytes, showing a poised bivalent state. Furthermore, we observed the derepression of similar bivalent genes in growth plate chondrocytes. Finally, a KDM6B inhibitor GSK-J4 prevented the H3K27me3 loss and cartilage damage in the rat OA model. Our results reveal an inherited bivalent epigenetic signature on developmental genes that makes articular chondrocytes prone to hypertrophy and contributes to a promising epigenetic therapy for OA.</p>","PeriodicalId":21576,"journal":{"name":"Science China Life Sciences","volume":" ","pages":""},"PeriodicalIF":8.0,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Understanding CoQ evolution in plants for crop trait design.","authors":"Ya-Long Guo","doi":"10.1007/s11427-025-2867-2","DOIUrl":"https://doi.org/10.1007/s11427-025-2867-2","url":null,"abstract":"","PeriodicalId":21576,"journal":{"name":"Science China Life Sciences","volume":" ","pages":""},"PeriodicalIF":8.0,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Toll-like receptor signaling in teleosts.","authors":"Jianguo Su","doi":"10.1007/s11427-024-2822-5","DOIUrl":"https://doi.org/10.1007/s11427-024-2822-5","url":null,"abstract":"<p><p>Toll-like receptors (TLRs) sit at the top of the immune system pyramid. They form a paramount family of immune sentinels capable of sensing diverse microbe-associated molecular patterns (MAPMs), danger/damage-associated molecular patterns (DAMPs), and other signals. These perceptions trigger immediate innate immunity and instruct subsequent adaptive immunity. TLRs are highly glycosylated type I transmembrane glycoproteins that share a conserved tripartite domain architecture (LRR, TM and TIR domains), classified into six subfamilies (TLR1, TLR3, TLR4, TLR5, TLR7, TLR11) in vertebrates. Upon ligand engagement, TLRs form homodimers or heterodimers to activate immune responses via SMOCs, orchestrated by intrinsic and pathogen-directed negative regulators, glycosylation modification, etc. TLR signaling culminates in the production of inflammatory cytokines, interferons, inflammasomes, immune cell activation, apoptosis, etc. Teleosts, as the largest and most diverse group among the extant vertebrates, manifest important economic value and are crucial for understanding the evolution of vertebrate immunity. To date, teleosts contain 20 TLRs (TLR1-5, TLR7-9, TLR13, TLR14, TLR18-23, TLR25-28) with expansions and losses in different species, and most of them possess more or less variants. Almost all teleostean TLRs localize in organelles, such as endosomes and lysosomes, sensing not only pathogens and DAMPs but also trophic factors and environmental stresses (hypoxia, temperature, microplastics, etc.). Most ligands for TLRs remain undetermined in teleosts. The adaptors consist of MyD88, TIRAP, TRIF, SARM1, BCAP and SCIMP, but without TRAM; however, half of the corresponding relationships between TLRs and adaptors remain unknown in teleosts. Neofunctionalization often emerges during evolution in teleostean TLRs. Here, a systematic review of TLR signaling in teleosts, from the perspective of comparative immunology, presents the current understanding of the functions and mechanisms of teleosts. Additionally, it provides strong evidence of a divergent TLR signaling repertoire with the species-specific variation among teleosts. These are expected to benefit novel adjuvants, aquaculture, fish immunology, and comparative immunology.</p>","PeriodicalId":21576,"journal":{"name":"Science China Life Sciences","volume":" ","pages":""},"PeriodicalIF":8.0,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lentiviral vectors for gene therapy of α-thalassemia.","authors":"Saijuan Xu, Dan Liang, Yan Cheng, Gongrui Sun, Feiyan Zhao, Yang Yang, Haokun Zhang, Yongrong Lai, Bin Fu, Yuxuan Wu","doi":"10.1007/s11427-024-2820-9","DOIUrl":"https://doi.org/10.1007/s11427-024-2820-9","url":null,"abstract":"","PeriodicalId":21576,"journal":{"name":"Science China Life Sciences","volume":" ","pages":""},"PeriodicalIF":8.0,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficient generation of all ESC-derived mice carrying a homozygous lethal mutation through eight-cell embryo injection.","authors":"Xidi Yin, Meng Yan, Yanbo Cheng, Zhoujie Li, Chong Cui, Yingyi Wang, Nan Liu, Yilai Shu, Jinsong Li, Qing Li","doi":"10.1007/s11427-024-2762-3","DOIUrl":"https://doi.org/10.1007/s11427-024-2762-3","url":null,"abstract":"","PeriodicalId":21576,"journal":{"name":"Science China Life Sciences","volume":" ","pages":""},"PeriodicalIF":8.0,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}