Coupling of alternative splicing and alternative polyadenylation by Zhang Xueying, Liu Feiyan, Zhou Yu

“…RNA splicing and 3′-cleavage and polyadenylation (CPA) are essential processes for the maturation of RNA. …”
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PGC1α −1 Nucleosome Position and Splice Variant Expression and Cardiovascular Disease Risk in Overweight and Obese Individuals by Tara M. Henagan, Laura K. Stewart, Laura A. Forney, Lauren M. Sparks, Neil Johannsen, Timothy S. Church

“…PGC1α expression is epigenetically regulated in skeletal muscle to determine mitochondrial adaptations, and epigenetic modifications may regulate mRNA splicing. We report in this paper that skeletal muscle PGC1α  −1 nucleosome (−1N) position is associated with splice variant NTPGC1α but not FLPGC1α expression. …”
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Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells by Benjamin M. Nash, To Ha Loi, Milan Fernando, Amin Sabri, James Robinson, Anson Cheng, Steven S. Eamegdool, Elizabeth Farnsworth, Bruce Bennetts, John R. Grigg, Seo-Kyung Chung, Anai Gonzalez-Cordero, Robyn V. Jamieson

“…The synonymous variant was suspected to affect RNA splicing. Since RPE65 is very poorly expressed in all tissues except the retinal pigment epithelium (RPE), we generated hiPSC-derived RPE cells from the parental carrier of the synonymous variant. …”
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Discovery of novel PRMT1 inhibitors: a combined approach using AI classification model and traditional virtual screening by Jungan Zhang, Yixin Ren, Yixin Ren, Yun Teng, Han Wu, Jingsu Xue, Lulu Chen, Xiaoyue Song, Yan Li, Ying Zhou, Zongran Pang, Zongran Pang, Hao Wang, Hao Wang, Hao Wang

“…Protein arginine methyltransferases (PRMTs) play crucial roles in gene regulation, signal transduction, mRNA splicing, DNA repair, cell differentiation, and embryonic development. …”
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Nanoplastics induces arrhythmia in human stem-cells derived cardiomyocytes by Shirley Pei Shan Chia, Jeremy Kah Sheng Pang, Winanto Winanto, Boon-Seng Soh

“…Complementing these in vitro findings, transcriptome profiling of mice exposed to NPs for 8 weeks revealed disrupted RNA splicing, dysregulated protein translation, and defective protein folding. …”
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Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression by Daphne Wijnbergen, Mridul Johari, Ozan Ozisik, Peter A.C. ‘t Hoen, Friederike Ehrhart, Anaïs Baudot, Chris T. Evelo, Bjarne Udd, Marco Roos, Eleni Mina

“…These subnetworks are related to antigen processing and presentation, chemokine-mediated signaling, immune response-signal transduction, rRNA processing, and mRNA splicing. An interesting finding is that the antigen processing and presentation subnetwork links the underexpressed miR-16-5p to overexpressed HLA genes by negative expression correlation. …”
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Deciphering the regulatory programs of RNA binding proteins in rheumatoid arthritis through single-cell transcriptome analysis by Hongbin Luo, Qunya Zheng, Youzheng Zhou, Weipeng Lai, Nanwen Zhang, Peng Chen

“…Single-cell RNA sequencing (scRNA-seq) data from published datasets were obtained to investigate the expression and dysregulation of RNA-binding proteins (RBPs), which are critical for alternative mRNA splicing and translational control in rheumatoid arthritis (RA). …”
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Development and Characterization of Anti-Nitr9 Antibodies by Radhika N. Shah, Ivan Rodriguez-Nunez, Donna D. Eason, Robert N. Haire, Julien Y. Bertrand, Valērie Wittamer, David Traver, Shila K. Nordone, Gary W. Litman, Jeffrey A. Yoder

“…However, alternative RNA splicing generates three distinct nitr9 transcripts, each of which encodes a different isoform. …”
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Oocyte transcriptomes and follicular fluid proteomics of ovine atretic follicles reveal the underlying mechanisms of oocyte degeneration by Yukun Song, Erhan Hai, Nan Zhang, Yu Zhang, Junlan Wang, Xitong Han, Jiaxin Zhang

“…Additionally, we uncovered 333 differentially expressed proteins that may coordinate follicular atresia and revealed key pathways, such as negative regulation of angiogenesis, metabolic pathways, and transcription and mRNA splicing, that lead to oocyte degeneration. Finally, by combining transcriptome and proteomics analyses, we identified two oocyte-secreted biomarkers, PGK1 and ANGPT2, that may be associated with follicular atresia. …”
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SETD2 loss-of-function uniquely sensitizes cells to epigenetic targeting of NSD1-directed H3K36 methylation by Ryan T. Wagner, Ryan A. Hlady, Xiaoyu Pan, Liguo Wang, Sungho Kim, Xia Zhao, Louis Y. El Khoury, Shafiq Shaikh, Jian Zhong, Jeong-Heon Lee, Jolanta Grembecka, Tomasz Cierpicki, Thai H. Ho, Keith D. Robertson

“…Its role in regulating cellular processes such as RNA splicing, DNA repair, and spurious transcription initiation underlies its broader tumor suppressor function. …”
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NKAPL facilitates transcription pause-release and bridges elongation to initiation during meiosis exit by Zhenlong Kang, Chen Xu, Shuai Lu, Jie Gong, Ruoyu Yan, Gan Luo, Yuanyuan Wang, Qing He, Yifei Wu, Yitong Yan, Baomei Qian, Shenglin Han, Zhiwen Bu, Jinwen Zhang, Xian Xia, Liang Chen, Zhibin Hu, Mingyan Lin, Zheng Sun, Yayun Gu, Lan Ye

“…Here, we show that depletion of NKAPL, a testis-specific protein distantly related to RNA splicing factors, causes male infertility in mice by blocking the meiotic exit and downregulating haploid genes. …”
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Adipocyte-specific Steap4 deficiency reduced thermogenesis and energy expenditure in mice by Han Wang, Lizi Zhang, Xing Chen, Lingzi Hong, Junjie Zhao, Wen Qian, Lam Khue Pham, Belinda Willard, Xiaoxia Li, Katarzyna Bulek, Xiao Li

“…RNA sequencing (RNA-seq) analysis of white adipose tissue demonstrated that Steap4 deficiency altered RNA splicing patterns with enriched mitochondrial functions. …”
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Interferon-α promotes HLA-B-restricted presentation of conventional and alternative antigens in human pancreatic β-cells by Alexia Carré, Fatoumata Samassa, Zhicheng Zhou, Javier Perez-Hernandez, Christiana Lekka, Anthony Manganaro, Masaya Oshima, Hanqing Liao, Robert Parker, Annalisa Nicastri, Barbara Brandao, Maikel L. Colli, Decio L. Eizirik, Jahnavi Aluri, Deep Patel, Marcus Göransson, Orlando Burgos Morales, Amanda Anderson, Laurie Landry, Farah Kobaisi, Raphael Scharfmann, Lorella Marselli, Piero Marchetti, Sylvaine You, Maki Nakayama, Sine R. Hadrup, Sally C. Kent, Sarah J. Richardson, Nicola Ternette, Roberto Mallone

“…Here we characterize the HLA-I antigen presentation in resting and IFN-α-exposed β-cells and find that IFN-α increases HLA-I expression and expands peptide repertoire to those derived from alternative mRNA splicing, protein cis-splicing and post-translational modifications. …”
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Knockout of <i>dhx38</i> Causes Inner Ear Developmental Defects in Zebrafish by Mengmeng Ren, Xiang Chen, Liyan Dai, Jiayi Tu, Hualei Hu, Xiaohan Sun, Jiong Luo, Pei Li, Yiyang Fu, Yuejie Zhu, Weiqiang Sun, Zhaohui Tang, Mugen Liu, Xiang Ren, Qunwei Lu

“…DHX38, a DEAH box RNA helicase, is integral to pre-mRNA splicing regulation and plays critical roles in development, cell differentiation, and stem cell maintenance. …”
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Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights by Xiaobing Li, Xiaobing Li, Xiaobing Li, Xiaobing Li, Xiaobing Li, Tingqiang Zhang, Tingqiang Zhang, Tingqiang Zhang, Tingqiang Zhang, Xuemei Li, Li Wang, Li Wang, Li Wang, Li Wang, Qian Li, Qian Li, Qian Li, Qian Li, Qianqian Liu, Qianqian Liu, Qianqian Liu, Qianqian Liu, Chengyin He, Li Zhang, Li Zhang, Li Zhang, Li Zhang, Yongsheng Liu, Yongsheng Liu, Yongsheng Liu, Yongsheng Liu, Junling Tang, Junling Tang, Junling Tang, Junling Tang

“…Genetic testing identified a novel SPTB gene splicing mutation (NM_001355436.2: c.1645-1G&gt;A), inherited maternally, which is predicted to disrupt normal RNA splicing and protein synthesis.DiscussionThe identified SPTB mutation expands the known mutation spectrum of the SPTB gene and highlights its role in the pathogenesis of HS. …”
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