2024年2月27日,上海交通大学基础医学院、上海市免疫学研究所邹强研究团队等在Immunity杂志在线发表了题为Lactate modulates RNA splicing to promote CTLA-4 expression in tumor-infiltrating regulatory T cells的研究论文。该研究...2024年2月27日,上海交通大学基础医学院、上海市免疫学研究所邹强研究团队等在Immunity杂志在线发表了题为Lactate modulates RNA splicing to promote CTLA-4 expression in tumor-infiltrating regulatory T cells的研究论文。该研究发现代谢产物乳酸通过促进肿瘤浸润Treg细胞中CTLA-4的RNA剪接及其表达从而维持Treg细胞免疫抑制功能的作用机制,阐述了乳酸-Foxp3-USP39-CTLA-4信号轴介导肿瘤浸润Treg细胞高表达CTLA-4的分子机制,为肿瘤免疫治疗提供了新方向。展开更多
Purpose A patient with retinitis pigmentosa demonstrated a novel RPGR mutation (213G > A, last base of exon 2) predicted to cause a missense change (G52R) in the final protein. This study w as performed to determin...Purpose A patient with retinitis pigmentosa demonstrated a novel RPGR mutation (213G > A, last base of exon 2) predicted to cause a missense change (G52R) in the final protein. This study w as performed to determine whether thismutation altered the effectiveness of the adjacent splice site. Design Observational case report. Methods Total RNA was ex tracted from leukocytes of the proband and his carrier mother. Reverse transcrip tion polymerase chain reaction (RT PCR) was performed by using the primers flan king exon 2 of RPGR transcript, followed by gel purification and direct sequenci ng. Results Sequencing revealed skipping of exon 2 in the mutated transcript, le ading to in frame deletion of 42 amino acids affecting the critical RCC1 like domain. Conclusions The last base of exons is conserved as “G”in 80%of splici ng consensus sequences, yet when changed, can completely disrupt constitutive sp licing as in this patient. Our data confirm that the evaluation of the effects o f some DNA sequence alterations at the RNA level might have important implicatio ns for appropriate genotypephenotype correlations.展开更多
文摘2024年2月27日,上海交通大学基础医学院、上海市免疫学研究所邹强研究团队等在Immunity杂志在线发表了题为Lactate modulates RNA splicing to promote CTLA-4 expression in tumor-infiltrating regulatory T cells的研究论文。该研究发现代谢产物乳酸通过促进肿瘤浸润Treg细胞中CTLA-4的RNA剪接及其表达从而维持Treg细胞免疫抑制功能的作用机制,阐述了乳酸-Foxp3-USP39-CTLA-4信号轴介导肿瘤浸润Treg细胞高表达CTLA-4的分子机制,为肿瘤免疫治疗提供了新方向。
文摘Purpose A patient with retinitis pigmentosa demonstrated a novel RPGR mutation (213G > A, last base of exon 2) predicted to cause a missense change (G52R) in the final protein. This study w as performed to determine whether thismutation altered the effectiveness of the adjacent splice site. Design Observational case report. Methods Total RNA was ex tracted from leukocytes of the proband and his carrier mother. Reverse transcrip tion polymerase chain reaction (RT PCR) was performed by using the primers flan king exon 2 of RPGR transcript, followed by gel purification and direct sequenci ng. Results Sequencing revealed skipping of exon 2 in the mutated transcript, le ading to in frame deletion of 42 amino acids affecting the critical RCC1 like domain. Conclusions The last base of exons is conserved as “G”in 80%of splici ng consensus sequences, yet when changed, can completely disrupt constitutive sp licing as in this patient. Our data confirm that the evaluation of the effects o f some DNA sequence alterations at the RNA level might have important implicatio ns for appropriate genotypephenotype correlations.
