A Trem2 R47H mouse model without cryptic splicing drives age- and disease-dependent tissue damage and synaptic loss in response to plaques by Kristine M. Tran, Shimako Kawauchi, Enikö A. Kramár, Narges Rezaie, Heidi Yahan Liang, Jasmine S. Sakr, Angela Gomez-Arboledas, Miguel A. Arreola, Celia da Cunha, Jimmy Phan, Shuling Wang, Sherilyn Collins, Amber Walker, Kai-Xuan Shi, Jonathan Neumann, Ghassan Filimban, Zechuan Shi, Giedre Milinkeviciute, Dominic I. Javonillo, Katelynn Tran, Magdalena Gantuz, Stefania Forner, Vivek Swarup, Andrea J. Tenner, Frank M. LaFerla, Marcelo A. Wood, Ali Mortazavi, Grant R. MacGregor, Kim N. Green

“…Unfortunately, many current Trem2 R47H mouse models are associated with cryptic mRNA splicing of the mutant allele that produces a confounding reduction in protein product. …”
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Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome by Meizhen Shi, Meizhen Shi, Yuying Liang, Bobo Xie, Bobo Xie, Xianda Wei, Xianda Wei, Haiyang Zheng, Haiyang Zheng, Chunrong Gui, Chunrong Gui, Rong Huang, Rong Huang, Xin Fan, Xin Fan, Chuan Li, Chuan Li, Xiaojiao Wei, Yunting Ma, Shaoke Chen, Shaoke Chen, Yujun Chen, Yujun Chen, Baoheng Gui, Baoheng Gui

“…The clinical significance of the variant was uncertain according to the ACMG/AMP guidelines; however, based on in silico analysis, it was predicted to alter mRNA splicing. To validate the prediction, a reverse transcriptase-polymerase chain reaction was conducted. …”
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ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease by María Rodríguez-Hidalgo, María Rodríguez-Hidalgo, Suzanne E. de Bruijn, Zelia Corradi, Kim Rodenburg, Araceli Lara-López, Alicia Valverde-Megías, Almudena Ávila-Fernández, Almudena Ávila-Fernández, Lidia Fernandez-Caballero, Lidia Fernandez-Caballero, Marta Del Pozo-Valero, Marta Del Pozo-Valero, Jordi Corominas, Jordi Corominas, Christian Gilissen, Christian Gilissen, Cristina Irigoyen, Cristina Irigoyen, Frans P. M. Cremers, Carmen Ayuso, Carmen Ayuso, Javier Ruiz-Ederra, Javier Ruiz-Ederra, Susanne Roosing

“…Approximately 25% of the reported ABCA4 variants affect RNA splicing. In most cases, it is necessary to perform a functional assay to determine the effect of these variants.Methods: Whole genome sequencing (WGS) was performed in one Spanish proband with Stargardt disease. …”
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Exosome miRNAs profiling in serum and prognostic evaluation in patients with multiple myeloma by Teng Fang, Hao Sun, Xiyue Sun, Yi He, Peixia Tang, Lixin Gong, Zhen Yu, Lanting Liu, Shiyi Xie, Tingyu Wang, Zhenshu Xu, Shuhua Yi, Gang An, Yan Xu, Guoqing Zhu, Lugui Qiu, Mu Hao

“…Functional enrichment analysis indicated that these target genes were mainly involved in mRNA splicing, cellular response to stress, and deubiquitination. 13 core exo-miRNA target genes were applied to create a novel prognostic signature to provide risk stratification for MM patients, which is associated with the immune microenvironment of MM patients. …”
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Decoding m6A mRNA methylation by reader proteins in liver diseases by Lijiao Sun, Xin Chen, Sai Zhu, Jianan Wang, Shaoxi Diao, Jinyu Liu, Jinjin Xu, Xiaofeng Li, Yingyin Sun, Cheng Huang, Xiaoming Meng, Xiongwen Lv, Jun Li

“…As the most prevalent internal post-transcriptional modification in eukaryotic RNA, it participates in the regulation of gene expression through various mechanisms, such as mRNA splicing, nuclear export, localization, translation efficiency, mRNA stability, and structural transformation. …”
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Characterising the transcriptional profile of CACNA1C expression in rodents by Husain, S

“…In this project, we have set out to fully characterise the full range of mRNA splice variants in mice and rats across neural and cardiovascular tissues.…”

Accessing a New Dimension in TP53 Biology: Multiplex Long Amplicon Digital PCR to Specifically Detect and Quantitate Individual <i>TP53</i> Transcripts by Annette Lasham, Peter Tsai, Sandra J. Fitzgerald, Sunali Y. Mehta, Nicholas S. Knowlton, Antony W. Braithwaite, Cristin G. Print

“…The study of <i>TP53&#8217;s</i> alternative RNA splice forms and their use as clinical biomarkers has been hampered by limited specificity and quantitative accuracy of current methods. …”
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Inefficient splicing of long non-coding RNAs is associated with higher transcript complexity in human and mouse by Koushiki Basu, Anubha Dey, Manjari Kiran

“…Intriguingly, lncRNAs produce more splice variants per exon, referred to as Transcript Complexity, than mRNAs. Most lncRNA splice variants are the product of the alternative last exon and exon skipping. …”
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Prokineticin-Receptor Network: Mechanisms of Regulation by Roberta Lattanzi, Rossella Miele

“…This review summarizes the major cellular and biochemical mechanisms of prokineticins pathway regulation that, like other chemokines, include: genetic polymorphisms; mRNA splice modulation; expression regulation at transcriptional and post-transcriptional levels; prokineticins interactions with cell-surface glycosaminoglycans; PKRs degradation, localization, post-translational modifications and oligomerization; alternative signaling responses; binding to pharmacological inhibitors. …”
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Hepatitis B virus serum RNA transcript isoform composition and proportion in chronic hepatitis B patients by nanopore long-read sequencing by Alicia Vachon, Alicia Vachon, Grace E. Seo, Grace E. Seo, Nishi H. Patel, Carla S. Coffin, Eric Marinier, Eduardo Eyras, Eduardo Eyras, Eduardo Eyras, Eduardo Eyras, Carla Osiowy, Carla Osiowy

“…HBV pregenomic RNA (pgRNA) was the most frequently observed transcript isoform (93.8% of patient samples), while other detected transcripts included pgRNA spliced variants, 3′ truncated variants and HBx mRNA, depending on the isoform detection method. …”
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The major form of MeCP2 has a novel N-terminus generated by alternative splicing. by Kriaucionis, S, Bird, A

“…We demonstrate that the MeCP2alpha mRNA splice variant is more abundant than the previously annotated MeCP2 mRNA (MeCP2beta) in mouse tissues and human brain. …”

Long-read sequencing reveals the complex splicing profile of the psychiatric risk gene CACNA1C in human brain by Clark, MB, Wrzesinski, T, Garcia, AB, Hall, N, Harrison, PJ, Tunbridge, E

“…RNA splicing is a key mechanism linking genetic variation with psychiatric disorders. …”

Profiling alternatively spliced mRNA isoforms for prostate cancer classification by Fan Jian-Bing, Wang-Rodriguez Jessica, Li Hai-Ri, Zhang Chaolin, Downs Tracy, Fu Xiang-Dong, Zhang Michael Q

“…Previously, we developed an exon-junction microarray-based assay and profiled 1532 mRNA splice isoforms from 364 potential prostate cancer related genes in 38 prostate tissues. …”
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Novel estrogen receptor alpha promoter polymorphism increases ventricular hypertrophic response to hypertension. by Figtree, G, Kindmark, A, Lind, L, Grundberg, E, Speller, B, Robinson, BG, Channon, K, Watkins, H

“…We conclude that a novel polymorphism in the promoter of a cardiac mRNA splice isoform of ERalpha is associated with LVH.…”

Retinoic acid-gated BDNF synthesis in neuronal dendrites drives presynaptic homeostatic plasticity by Shruti Thapliyal, Kristin L Arendt, Anthony G Lau, Lu Chen

“…We show that RARα binds to a subset of dendritically sorted brain-derived neurotrophic factor (Bdnf) mRNA splice isoforms and represses their translation. …”
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Potential Use of Multiple Antisense Oligonucleotide Analogs for Cancer Prevention and Therapy by Jack S. Cohen, Barak Akabayov

“…In general ASO analog sequences could be used to target the unique pre-mRNA splice sites of selected genes in order to suppress carcinogenesis in vitro in selected cancer cell lines and subsequently in vivo in chosen mouse models. …”
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Recognition of A-U and U-A base pairs in RNA duplexes by modified peptide nucleic acids by Yuan, Zhen

“…The stem loop structure present in the tau pre-mRNA splice site is crucial for the splicing process and contains two U-A base pairs. …”
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Identification and functional characterization of neo-poly(A) polymerase, an RNA processing enzyme overexpressed in human tumors. by Topalian, S, Kaneko, S, Gonzales, M, Bond, G, Ward, Y, Manley, J

“…Intriguingly, Northern blot analysis demonstrated that each PAP displayed distinct mRNA splice variants, and both PAP mRNAs were significantly overexpressed in human cancer cells compared to expression in normal or virally transformed cells. …”

The melon Fom‐1–Prv resistance gene pair: Correlated spatial expression and interaction with a viral protein by Michael Normantovich, Arie Amitzur, Sharon Offri, Ekaterina Pashkovsky, Yula Shnaider, Shahar Nizan, Ohad Yogev, Avi Jacob, Christopher G. Taylor, Cécile Desbiez, Steven A. Whitham, Amalia Bar‐Ziv, Rafael Perl‐Treves

“…They encode, via several RNA splice variants, TIR‐NBS‐LRR proteins, and Prv has a C‐terminal extra domain with a second NBS homologous sequence. …”
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In Vivo Efficacy and Safety Evaluations of Therapeutic Splicing Correction Using U1 snRNA in the Mouse Retina by Sebastian Swirski, Oliver May, Malte Ahlers, Bernd Wissinger, Martin Greschner, Christoph Jüschke, John Neidhardt

“…The viruses transduced retinal cells with an engineered U1 snRNA splice factor designed to correct the <i>Opa1</i> splice defect. …”
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