Design of a Bioactive Small Molecule That Targets the Myotonic Dystrophy Type 1 RNA via an RNA Motif–Ligand Database and Chemical Similarity Searching by Parkesh, Raman, Childs-Disney, Jessica L., Nakamori, Masayuki, Kumar, Amit, Wang, Thomas, Hoskins, Jason, Thornton, Charles A., Disney, Matthew D., Housman, David E, Wang, Eric T, Tran, Tuan, M. Eng (Tuan Minh) Massachusetts Institute of Technology

“…The transcribed repeats fold into an RNA hairpin with multiple copies of a 5′CUG/3′GUC motif that binds the RNA splicing regulator muscleblind-like 1 protein (MBNL1). …”
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SF3B1 and Other Novel Cancer Genes in Chronic Lymphocytic Leukemia by Wang, Lili, Lawrence, Michael S., Wan, Youzhong, Stojanov, Petar, Sougnez, Carrie, Stevenson, Kristen, Werner, Lillian, Sivachenko, Andrey, DeLuca, David S., Zhang, Li, Zhang, Wandi, Vartanov, Alexander R., Fernandes, Stacey M., Goldstein, Natalie R., Folco, Eric G., Cibulskis, Kristian, Tesar, Bethany, Sievers, Quinlan L., Shefler, Erica, Gabriel, Stacey B., Hacohen, Nir, Reed, Robin, Meyerson, Matthew L., Golub, Todd R., Neuberg, Donna S., Brown, Jennifer R., Getz, Gad, Wu, Catherine J., Lander, Eric S., Lander, Eric Steven

“…We further discovered that tumor samples with mutations in SF3B1 had alterations in pre–messenger RNA (mRNA) splicing. Conclusions: Our study defines the landscape of somatic mutations in chronic lymphocytic leukemia and highlights pre-mRNA splicing as a critical cellular process contributing to chronic lymphocytic leukemia.…”
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Nonsuppressible viremia during HIV-1 therapy meets molecular virology by Ann Emery, Sarah B. Joseph, Ronald Swanstrom

“…These mutations altered viral RNA-splicing efficiency and RNA dimerization and packaging, yet still allowed production of detectable levels of noninfectious virus particles. …”
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Noncoding rules of survival: epigenetic regulation of normal and malignant hematopoiesis by LaShanale Wallace, Esther A. Obeng

“…Consequently, next-generation sequencing studies have identified various aberrations in histone modifications, DNA methylation, RNA splicing, and RNA modifications in hematologic diseases. …”
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Adenovirus Core Proteins: Structure and Function by Shermila Kulanayake, Suresh K. Tikoo

“…Adenoviruses have served as a model for investigating viral-cell interactions and discovering different cellular processes, such as RNA splicing and DNA replication. In addition, the development and evaluation of adenoviruses as the viral vectors for vaccination and gene therapy has led to detailed investigations about adenovirus biology, including the structure and function of the adenovirus encoded proteins. …”
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A Day in the Life of the Exon Junction Complex by Lena P. Schlautmann, Niels H. Gehring

“…Specifically, the EJC’s core components and its associated proteins regulate different steps of gene expression, including pre-mRNA splicing, mRNA export, translation, and nonsense-mediated mRNA decay (NMD). …”
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Interaction of hnRNPA1/A2 and DAZAP1 with an Alu-derived intronic splicing enhancer regulates ATM aberrant splicing. by Tibor Pastor, Franco Pagani

“…These data suggest that splicing factors with both negative and positive effect can assemble on the intronic Alu repeats and regulate pre-mRNA splicing.…”
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Targeted splicing therapy: new strategies for colorectal cancer by Yifeng Zheng, Guoqiang Zhong, Chengcheng He, Mingsong Li

“…RNA splicing is the process of forming mature mRNA, which is an essential phase necessary for gene expression and controls many aspects of cell proliferation, survival, and differentiation. …”
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RNA modifications in gynecological cancer: current status and future directions by Wanshan He, Xiaoshan Hong, Guanqiao Chen, Xiping Luo, Yu Lin

“…RNA modification mainly regulates RNA splicing, intracellular transport, degradation, translation, and stability. …”
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Role of RNA Alternative Splicing in T Cell Function and Disease by Shefali Banerjee, Gaddiel Galarza-Muñoz, Mariano A. Garcia-Blanco

“…Alternative RNA splicing, a ubiquitous mechanism of gene regulation in eukaryotes, expands genome coding capacity and proteomic diversity. …”
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Ending the message: poly(A) signals then and now. by Proudfoot, N

“…The widespread phenomenon of alternative poly(A) site usage and how this interrelates with pre-mRNA splicing is then reviewed. This shows that gene expression can be drastically affected by how the message is ended. …”

Intronic microRNAs: a crossroad in gene regulation. by Gromak, N

“…This observation suggests that there is co-regulation between the miRNA biogenesis and pre-mRNA splicing processes. The present review summarizes current advances in this field and discusses possible roles for intronic co-transcriptional cleavage events in the regulation of human gene expression.…”

Splicing therapy for neuromuscular disease. by Douglas, A, Wood, M

“…However, by manipulation of pre-mRNA splicing using antisense oligonucleotides, defective transcripts from the DMD gene and from the SMN2 gene in SMA can be modified to once again produce protein and restore function. …”

Mechanisms of transcriptional dysregulation in repeat expansion disorders. by Groh, M, Silva, L, Gromak, N

“…The presence of an expansion can affect RNA polymerase transcription, leading to dysregulation of transcription-associated processes, such as RNA splicing, formation of RNA/DNA hybrids (R-loops), production of antisense, short non-coding and bidirectional RNA transcripts. …”

Crystal structure of the 2-oxoglutarate- and Fe(II)-dependent lysyl hydroxylase JMJD6. by Mantri, M, Krojer, T, Bagg, E, Webby, C, Butler, D, Kochan, G, Kavanagh, K, Oppermann, U, McDonough, M, Schofield, C

“…JMJD6 catalyses the iron- and 2-oxoglutarate-dependent hydroxylation of lysyl residues in arginine-serine-rich domains of RNA splicing-related proteins. We report crystallographic studies on the catalytic domain of JMJD6 in complex with Ni(II) substituting for Fe(II). …”

2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family by Wafik, M, Taylor, J, Lester, T, Gibbons, R, Shears, D

“…CLP1 is an RNA kinase involved in tRNA splicing and maturation. There is evidence that the mutation is associated with functionally impaired kinase activity and subsequent defective tRNA processing. …”

Technological advances and computational approaches for alternative splicing analysis in single cells by Wen, WX, Mead, AJ, Thongjuea, S

“…The discovery of alternative splicing has been revolutionized by next-generation transcriptomic sequencing mainly using bulk RNA-sequencing, which has unravelled RNA splicing and mis-splicing of normal cells under steady-state and stress conditions. …”

Genetic Manipulation Strategies for β-Thalassemia: A Review by Nur Atikah Zakaria, Rosnah Bahar, Wan Zaidah Abdullah, Abdul Aziz Mohamed Yusoff, Shaharum Shamsuddin, Shaharum Shamsuddin, Shaharum Shamsuddin, Ridhwan Abdul Wahab, Muhammad Farid Johan

“…Manipulation of β-globin RNA is mediated by antisense oligonucleotides (ASOs) or splice-switching oligonucleotides (SSOs), which redirect pre-mRNA splicing to significantly restore correct β-globin pre-mRNA splicing and gene product in cultured erythropoietic cells. …”
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Loss-of-function mutation in PRMT9 causes abnormal synapse development by dysregulation of RNA alternative splicing by Lei Shen, Xiaokuang Ma, Yuanyuan Wang, Zhihao Wang, Yi Zhang, Hoang Quoc Hai Pham, Xiaoqun Tao, Yuehua Cui, Jing Wei, Dimitri Lin, Tharindumala Abeywanada, Swanand Hardikar, Levon Halabelian, Noah Smith, Taiping Chen, Dalia Barsyte-Lovejoy, Shenfeng Qiu, Yi Xing, Yanzhong Yang

“…Mechanistically, we discover a methylation-sensitive protein–RNA interaction between the arginine 508 (R508) of the splicing factor 3B subunit 2 (SF3B2), the site that is exclusively methylated by PRMT9, and the pre-mRNA anchoring site, a cis-regulatory element that is critical for RNA splicing. Additionally, using human and mouse cell lines, as well as an SF3B2 arginine methylation-deficient mouse model, we provide strong evidence that SF3B2 is the primary methylation substrate of PRMT9, thus highlighting the conserved function of the PRMT9/SF3B2 axis in regulating pre-mRNA splicing.…”
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The Tumor Suppressor <i>Adenomatous Polyposis Coli (apc)</i> Is Required for Neural Crest-Dependent Craniofacial Development in Zebrafish by Xiaolei Liu, William D. Jones, Mathieu Quesnel-Vallières, Sudhish A. Devadiga, Kristin Lorent, Alexander J. Valvezan, Rebecca L. Myers, Ning Li, Christopher J. Lengner, Yoseph Barash, Michael Pack, Peter S. Klein

“…Consistent with our previous work showing that APC directly enhances the activity of glycogen synthase kinase 3 (GSK-3) and, independently, that GSK-3 phosphorylates multiple core mRNA splicing factors, we identify 340 mRNA splicing variations in <i>apc</i> mutant zebrafish, including a splice variant that deletes a conserved domain in <i>semaphorin 3f</i> (<i>sema3f</i>), an axonal guidance molecule and a known regulator of CNC migration. …”
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