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Journal articles on the topic 'U2AF2'

Author: Grafiati

Published: 10 May 2025

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1

Warnasooriya, Chandani, Callen F. Feeney, Kholiswa M. Laird, Dmitri N. Ermolenko, and Clara L. Kielkopf. "A splice site-sensing conformational switch in U2AF2 is modulated by U2AF1 and its recurrent myelodysplasia-associated mutation." Nucleic Acids Research 48, no. 10 (2020): 5695–709. http://dx.doi.org/10.1093/nar/gkaa293.

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Abstract An essential heterodimer of the U2AF1 and U2AF2 pre-mRNA splicing factors nucleates spliceosome assembly at polypyrimidine (Py) signals preceding the major class of 3′ splice sites. U2AF1 frequently acquires an S34F-encoding mutation among patients with myelodysplastic syndromes (MDS). The influence of the U2AF1 subunit and its S34F mutation on the U2AF2 conformations remains unknown. Here, we employ single molecule Förster resonance energy transfer (FRET) to determine the influence of wild-type or S34F-substituted U2AF1 on the conformational dynamics of U2AF2 and its splice site RNA

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2

Biancon, Giulia, Poorval Joshi, Torben Hunck, et al. "U2AF1 Driver Mutations in Hematopoietic Disorders Alter but Do Not Abrogate RNA Binding and Enlighten Structural Dependencies of the U2AF-RNA Complex." Blood 134, Supplement_1 (2019): 1230. http://dx.doi.org/10.1182/blood-2019-130759.

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Among genetic aberrations responsible for ineffective hematopoiesis in myelodysplastic syndromes (MDS) and acute myeloid leukemia, somatic mutations in splicing factors such as U2AF1 are of significant interest as they are recurrent, mutually exclusive and early occurring. U2AF1 participates in mRNA splicing through the recognition of the intronic 3' splice site, forming the U2AF complex as a heterodimer with U2AF2. Heterozygous hotspot mutations at S34 or Q157, in the two U2AF1 zinc fingers respectively, result in sequence dependent aberrant splicing, suggestive of altered RNA binding. The me

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3

Yang, Chao-Yie, Xinrui Yuan, Mona Kazemi Sabzvar, et al. "Small-Molecule U2 Auxiliary Factor Homology Motif (UHM) Domain Inhibitors Cause Splicing Pattern Changes in U2AF1 Mutant Leukemia Cells and Induce Sub-G1 Cell Cycle Arrest." Blood 142, Supplement 1 (2023): 115. http://dx.doi.org/10.1182/blood-2023-190365.

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Mutations in factors involved in the spliceosomal pathway have emerged to be an important contributor to the development of myeloid neoplasms including MDS and secondary AML (sAML). A set of frequently mutated genes encoding RNA splicing factors including SF3B1, U2AF1, SRSF2, and ZRSR2 or haploinsufficiency of LUC7L2 have beenreported, but pharmacological intervention targeting these genes remains limited and under-developed. Combination of mutations of these splicing factors are rarely found in patients indicating that multiple defects in a spliceosome pathway may be deleterious. Heterozygous

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4

Biancon, Giulia, Poorval Joshi, Torben Hunck, et al. "High-Resolution Binding Atlas of U2AF1 Mutants Uncovers New Complexity in Splicing Alterations and Kinetics in Myeloid Malignancies." Blood 136, Supplement 1 (2020): 3–4. http://dx.doi.org/10.1182/blood-2020-142854.

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Spliceosomal gene mutations function as drivers of hematologic malignancies and other cancers with an occurrence of more than 50% in myelodysplastic syndromes and secondary acute myeloid leukemia. Hotspot mutations S34F and Q157R in the two zinc finger domains of the splicing factor U2AF1, forming with U2AF2 the U2AF complex that recognizes 3' splice site (3'SS) of U2 introns, alter exon usage in a sequence-specific manner. However, how pathological U2AF1 mutations disrupt ordered splicing, from binding to recruitment of cooperating RNA binding proteins and ultimately splicing kinetics, is sti

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5

Yuan, Xinrui, Mona Kazemi Sabzvar, Amol D. Patil, et al. "Targeting Poly(U) Binding Splicing Factor 60 (PUF60): A Small-Molecule Inhibitor Shows Anti-Leukemic Activity and Impacts Cell Cycle in Leukemia Models." Blood 144, Supplement 1 (2024): 7470. https://doi.org/10.1182/blood-2024-210241.

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The emerging role of altered RNA splicing in the development of myeloid neoplasms including MDS and AML has received wide attention. Facilitating genes, including the frequently mutated splicing factors, SF3B1, U2AF1, and SRSF2, have been reported to play a key role in leukemogenesis. Pharmacological intervention targeting cells harboring these mutations has been pursued, but limited agents have been reported. Rare events of more than one hit in splicing factors were found in MDS and AML patients' samples. This suggests that inhibiting another target in the splicing process may overcome the th

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6

Akef, Abdalla, Kathy McGraw, Steven D. Cappell, and Daniel R. Larson. "Ribosome biogenesis is a downstream effector of the oncogenic U2AF1-S34F mutation." PLOS Biology 18, no. 11 (2020): e3000920. http://dx.doi.org/10.1371/journal.pbio.3000920.

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U2 Small Nuclear RNA Auxiliary Factor 1 (U2AF1) forms a heterodimeric complex with U2AF2 that is primarily responsible for 3ʹ splice site selection. U2AF1 mutations have been identified in most cancers but are prevalent in Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML), and the most common mutation is a missense substitution of serine-34 to phenylalanine (S34F). The U2AF heterodimer also has a noncanonical function as a translational regulator. Here, we report that the U2AF1-S34F mutation results in specific misregulation of the translation initiation and ribosome biogenesis m

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7

Maji, Debanjana, Eliezra Glasser, Steven Henderson, et al. "Representative cancer-associated U2AF2 mutations alter RNA interactions and splicing." Journal of Biological Chemistry 295, no. 50 (2020): 17148–57. http://dx.doi.org/10.1074/jbc.ra120.015339.

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High-throughput sequencing of hematologic malignancies and other cancers has revealed recurrent mis-sense mutations of genes encoding pre-mRNA splicing factors. The essential splicing factor U2AF2 recognizes a polypyrimidine-tract splice-site signal and initiates spliceosome assembly. Here, we investigate representative, acquired U2AF2 mutations, namely N196K or G301D amino acid substitutions associated with leukemia or solid tumors, respectively. We determined crystal structures of the wild-type (WT) compared with N196K- or G301D-substituted U2AF2 proteins, each bound to a prototypical AdML p

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8

Grammatikakis, Ioannis, Amit Behera, Corrine Corrina R Hartford, et al. "Abstract A013: Molecular mechanisms of intron retention in Long Non-Coding RNAs." Molecular Cancer Therapeutics 23, no. 11_Supplement (2024): A013. http://dx.doi.org/10.1158/1538-8514.rnadrivers24-a013.

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Abstract Intron retention (IR) is a form of alternative splicing in which an intron that should be spliced out from a precursor transcript, is retained in the mature RNA after the splicing is completed. Although there is emerging evidence of widespread IR in protein-coding genes and long noncoding RNAs (lncRNAs), the underlying molecular mechanisms remain largely unclear. Here, we report the discovery of novel transcripts from the p53-induced lncRNA PURPL, in which intron 2 is retained. To determine the molecular mechanism(s) of IR in PURPL, we conducted a CRISPR-based screen in 3 different ce

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9

Kang, Hyun-Seo, Carolina Sánchez-Rico, Stefanie Ebersberger, et al. "An autoinhibitory intramolecular interaction proof-reads RNA recognition by the essential splicing factor U2AF2." Proceedings of the National Academy of Sciences 117, no. 13 (2020): 7140–49. http://dx.doi.org/10.1073/pnas.1913483117.

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The recognition of cis-regulatory RNA motifs in human transcripts by RNA binding proteins (RBPs) is essential for gene regulation. The molecular features that determine RBP specificity are often poorly understood. Here, we combined NMR structural biology with high-throughput iCLIP approaches to identify a regulatory mechanism for U2AF2 RNA recognition. We found that the intrinsically disordered linker region connecting the two RNA recognition motif (RRM) domains of U2AF2 mediates autoinhibitory intramolecular interactions to reduce nonproductive binding to weak Py-tract RNAs. This proofreading

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10

Biancon, Giulia, Poorval Joshi, Joshua T. Zimmer, et al. "U2AF1 Mutations Enhance Stress Granule Response in Myeloid Malignancies." Blood 138, Supplement 1 (2021): 321. http://dx.doi.org/10.1182/blood-2021-149618.

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Abstract Somatic mutations in splicing factor genes are drivers of myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). The splicing factors U2AF1 and U2AF2 form the U2AF heterodimer that is critical in the 3' splice site (3'SS) recognition and in the recruitment of U2 small nuclear ribonucleoproteins for the activation of the spliceosome complex. U2AF1 carries hotspot mutations in its two RNA binding motifs; yet the molecular mechanisms affecting the splicing process and promoting clonal advantage remain unclear, albeit necessary to develop effective targeted therapies. We applie

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11

Adamia, Sophia, Christian Bach, Patrick M. Pilarski, et al. "Aberrant Splicing In Patients With AML Is Associated With Over- Expression Of Specific Splicing Factors." Blood 122, no. 21 (2013): 3749. http://dx.doi.org/10.1182/blood.v122.21.3749.3749.

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Abstract Pre-mRNA processing, referred to as alternative RNA splicing (AS), is a critical determinant of protein diversity. AS produces multiple transcripts and, as a result, multiple proteins from a single gene. Recently, frequent mutations in splicing factor genes have been reported in myelodysplasia (MDS) and chronic lymphocytic leukemia (CLL), and less frequently in AML. However, in previous studies, we found that aberrant patterns of splicing were common in cells from 66 AML patients compared to 10 normal donors (NDs), more common than could be explained by mutations in splicing factor ge

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12

Zhang, Xiaoqing, Matias A. Bustos, Rebecca Gross, et al. "Abstract 3233: Interleukin enhancer-binding factor 2 amplification controls mRNA stability and enhances DNA damage response in metastatic melanoma." Cancer Research 82, no. 12_Supplement (2022): 3233. http://dx.doi.org/10.1158/1538-7445.am2022-3233.

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Abstract Background: 1q21.3 amplification is frequently observed in metastatic melanoma. Interleukin enhancer-binding factor 2 (ILF2) is in the 1q21.3 amplified region. The functional role of ILF2 as well as its contribution in promoting an aggressive phenotype in cutaneous metastatic melanoma is unknown. Methods: In silico analyses were performed using the TCGA SKCM dataset with clinical annotations. The results were validated in three melanoma cohort microarray datasets from the GEO database. Melanoma tissues mRNA levels were assessed by RNA in situ hybridization and protein levels were anal

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13

Lin, Chien-Ling, Allison J. Taggart, Kian Huat Lim, et al. "RNA structure replaces the need for U2AF2 in splicing." Genome Research 26, no. 1 (2015): 12–23. http://dx.doi.org/10.1101/gr.181008.114.

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14

Okeyo-Owuor, Theresa, Brian S. White, Dipika Mohan, Malachi Griffith, Matthew J. Walter, and Timothy Graubert. "Allele-Specific Effects Of U2AF1 Mutations On Alternative Splicing." Blood 122, no. 21 (2013): 2748. http://dx.doi.org/10.1182/blood.v122.21.2748.2748.

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Abstract Four independent groups, including ours, recently discovered recurrent mutations in core components of the pre-mRNA splicing complex (the “spliceosome”) in myelodysplastic syndrome (MDS) patient samples using next-generation sequencing approaches. We previously identified mutations in U2AF1 affecting codons S34 (S34F and S34Y) or Q157 (Q157R and Q157P) in 11% of patients with de novo MDS. Although the role of U2AF1 as an accessory factor in the U2 snRNP is well established, it is not yet clear how these mutations affect splicing or contribute to MDS. To determine the effects of S34 an

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15

Schott, Geraldine, Gaddiel Galarza-Muñoz, Noe Trevino, et al. "U2AF2 binds IL7R exon 6 ectopically and represses its inclusion." RNA 27, no. 5 (2021): 571–83. http://dx.doi.org/10.1261/rna.078279.120.

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16

Love, Sierra L., and Aaron A. Hoskins. "Stuck on UUUU: New splicing inhibitors enhance U2AF2-RNA binding." Cell Chemical Biology 28, no. 8 (2021): 1106–8. http://dx.doi.org/10.1016/j.chembiol.2021.07.021.

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17

Howard, Jonathan M., Hai Lin, Andrew J. Wallace, et al. "HNRNPA1 promotes recognition of splice site decoys by U2AF2 in vivo." Genome Research 28, no. 5 (2018): 689–98. http://dx.doi.org/10.1101/gr.229062.117.

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18

Kralovicova, Jana, Ivana Borovska, Monika Kubickova, Peter J. Lukavsky, and Igor Vorechovsky. "Cancer-Associated Substitutions in RNA Recognition Motifs of PUF60 and U2AF65 Reveal Residues Required for Correct Folding and 3′ Splice-Site Selection." Cancers 12, no. 7 (2020): 1865. http://dx.doi.org/10.3390/cancers12071865.

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U2AF65 (U2AF2) and PUF60 (PUF60) are splicing factors important for recruitment of the U2 small nuclear ribonucleoprotein to lariat branch points and selection of 3′ splice sites (3′ss). Both proteins preferentially bind uridine-rich sequences upstream of 3′ss via their RNA recognition motifs (RRMs). Here, we examined 36 RRM substitutions reported in cancer patients to identify variants that alter 3′ss selection, RNA binding and protein properties. Employing PUF60- and U2AF65-dependent 3′ss previously identified by RNA-seq of depleted cells, we found that 43% (10/23) and 15% (2/13) of independ

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19

Fang, Li, Ting Ye, and Yanmei An. "Circular RNA FOXP1 Induced by ZNF263 Upregulates U2AF2 Expression to Accelerate Renal Cell Carcinoma Tumorigenesis and Warburg Effect through Sponging miR-423-5p." Journal of Immunology Research 2021 (September 3, 2021): 1–16. http://dx.doi.org/10.1155/2021/8050993.

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Renal cell carcinoma (RCC), as one of the most common malignant tumors in the urinary system, is featured with high morbidity and mortality. Although the improvement of clinical intervention, such as surgery technology, chemotherapy, and radiotherapy, has been made, the outcomes of RCC patients are still poor. Novel targets for RCC treatment are urgently needed. Recently, circRNA has been in-depth studied and is considered as a promising direction for gene target therapy. In this study, we explored the function of circFOXP1 in RCC progression and its underlying mechanisms. Firstly, we demonstr

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20

Braish, Julie, Prithviraj Bose, Naveen Pemmaraju, et al. "Deeper Insight into Splicing Mutations in Myelofibrosis." Blood 142, Supplement 1 (2023): 4580. http://dx.doi.org/10.1182/blood-2023-189168.

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Introduction: Prognostically adverse mutations in patients with primary myelofibrosis (MF) include ASXL1, EZH2 IDH1, IDH2, and two types of splicing mutations U2AF1 Q157 and SRSF2 (as in MIPSS70.v2 score). The other splicing mutations (SPM), such as SF3B1 or ZRSR2, do not appear to have impact on prognosis. In patients with MF secondary to polycythemia vera or essential thrombocytopenia (PPV-MF, PET-MF), the role of SPM is less known, and they are not included in the MYSEC-PM score. Objective: We aimed to evaluate the role of SPM on the outcome of patients with PPV/PET-MF, and their interplay

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21

Douet-Guilbert, Nathalie, Benoît Soubise, Delphine G. Bernard, and Marie-Bérengère Troadec. "Cytogenetic and Genetic Abnormalities with Diagnostic Value in Myelodysplastic Syndromes (MDS): Focus on the Pre-Messenger RNA Splicing Process." Diagnostics 12, no. 7 (2022): 1658. http://dx.doi.org/10.3390/diagnostics12071658.

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Myelodysplastic syndromes (MDS) are considered to be diseases associated with splicing defects. A large number of genes involved in the pre-messenger RNA splicing process are mutated in MDS. Deletion of 5q and 7q are of diagnostic value, and those chromosome regions bear the numbers of splicing genes potentially deleted in del(5q) and del(7q)/-7 MDS. In this review, we present the splicing genes already known or suspected to be implicated in MDS pathogenesis. First, we focus on the splicing genes located on chromosome 5 (HNRNPA0, RBM27, RBM22, SLU7, DDX41), chromosome 7 (LUC7L2), and on the SF

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Adamia, Sophia, Hervé Avet-Loiseau, Jana Jakubikova, et al. "Genome-Wide Aberrant Splicing in Patients with Acute Myelold Leukemia (AML) Is Associated with Altered Expression of Splicing Factors." Blood 120, no. 21 (2012): 652. http://dx.doi.org/10.1182/blood.v120.21.652.652.

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Abstract Abstract 652 Long-term survival of patients with acute myeloid leukemia (AML) is poor, and new forms of therapy are needed. Many genetic lesions have been identified and studied, and most patients have chromosome translocations or other mutations that promote self-renewal of leukemic stem cells, block differentiation, enhance growth, and block apoptosis. Only a few of these mutations result in druggable targets (e.g., PML-RARa, Kit, PDGFR, FLT3 for instance). In addition to genetic lesions, epigenetic abnormalities have been shown to be very common in AML, and provide opportunities fo

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Zhang, P., S. Feng, G. Liu, et al. "CD82 suppresses CD44 alternative splicing-dependent melanoma metastasis by mediating U2AF2 ubiquitination and degradation." Oncogene 35, no. 38 (2016): 5056–69. http://dx.doi.org/10.1038/onc.2016.67.

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Glasser, Eliezra, Anant A. Agrawal, Jermaine L. Jenkins, and Clara L. Kielkopf. "Cancer-Associated Mutations Mapped on High-Resolution Structures of the U2AF2 RNA Recognition Motifs." Biochemistry 56, no. 36 (2017): 4757–61. http://dx.doi.org/10.1021/acs.biochem.7b00551.

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25

Kielkopf, Clara L., Callen F. Feeney, Rakesh Chatrikhi, et al. "A synthetic molecule stalls pre-mRNA splicing by enhancing cancer-relevant U2AF2–RNA complexes." Acta Crystallographica Section A Foundations and Advances 75, a1 (2019): a103. http://dx.doi.org/10.1107/s0108767319098969.

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26

Whisenant, Thomas C. "Gene expression profiling of U2AF2 dependent RNA-protein interactions during CD4 + T cell activation." Genomics Data 11 (March 2017): 77–80. http://dx.doi.org/10.1016/j.gdata.2016.12.006.

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27

Kashlakova, A. I., E. N. Parovichnikova, B. V. Biderman, et al. "Next-generation sequencing-based molecular genetic profiling in adults with acute myeloid leukaemia." Russian journal of hematology and transfusiology 65, no. 4 (2020): 444–59. http://dx.doi.org/10.35754/0234-5730-2020-65-4-444-459.

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Introduction. Acute myeloid leukaemia (AML) is associated with multiple driver mutations, which prognostic value remains understudied.Aim. Assessment of the frequency of mutations in various genes and their impact on acute myeloid leukaemia outcome in adults.Materials and methods. The study included 90 adult patients with newly diagnosed AML; 76 were aged under 60, 14 were 60 and more years old. Patients under 60 had chemotherapy (CT) “7+3” as induction, the elder cohort had variant low-dose CT with hypomethylating agents. The molecular genetic status of patients was determined using next-gene

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28

Galardi, Justin W., Victoria N. Bela, Nazish N. Jeffery, et al. "A UHM-ULM interface contributes to the pre-mRNA splicing functions of U2AF2 and SF3B1." Biophysical Journal 121, no. 3 (2022): 451a. http://dx.doi.org/10.1016/j.bpj.2021.11.513.

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29

Maji, Debanjana, Eliezra Glasser, Jermaine L. Jenkins, and Clara L. Kielkopf. "Cancer-associated mutations of the pre-mRNA splicing factor U2AF2 alter splice site signal recognition." Acta Crystallographica Section A Foundations and Advances 74, a1 (2018): a232. http://dx.doi.org/10.1107/s0108767318097672.

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30

Chatrikhi, Rakesh, Callen F. Feeney, Mary J. Pulvino, et al. "A synthetic small molecule stalls pre-mRNA splicing by promoting an early-stage U2AF2-RNA complex." Cell Chemical Biology 28, no. 8 (2021): 1145–57. http://dx.doi.org/10.1016/j.chembiol.2021.02.007.

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31

Butler, Emily G., Debanjana Maji, Mary J. Pulvino, Jermaine L. Jenkins, and Clara L. Kielkopf. "Representative cancer-associated U2AF2 mutations occurring at the inter-RRM interface alter RNA interactions and splicing." Biophysical Journal 121, no. 3 (2022): 480a. http://dx.doi.org/10.1016/j.bpj.2021.11.388.

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32

Sutandy, F. X. Reymond, Stefanie Ebersberger, Lu Huang, et al. "In vitro iCLIP-based modeling uncovers how the splicing factor U2AF2 relies on regulation by cofactors." Genome Research 28, no. 5 (2018): 699–713. http://dx.doi.org/10.1101/gr.229757.117.

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33

Mohamed, Aminetou Mint, Morgan Thenoz, Catherine Koering, et al. "DEK and WT1 Affect Alternative Splicing of Genes Involved in Hematopoietic Cell Lineage and Resistance to Chemotherapy in Acute Myeloid Leukemia Cells." Blood 120, no. 21 (2012): 2392. http://dx.doi.org/10.1182/blood.v120.21.2392.2392.

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Abstract Abstract 2392 In humans, the majority of all protein-coding transcripts contain introns that are removed by mRNA splicing carried out by spliceosomes. Mutations in the spliceosome machinery have recently been identified using whole-exome/genome technologies in myelodysplastic syndromes (MDS) and in acute myeloid leukemia (AML). In MDS the frequency of somatic spliceosomal mutations (SSM) range from 1–3% for U2AF1 in RARS/RCMD-RS to more than 70% for SF3B1 in ARSI. These values are significantly lower in AML whereas AML cells cumulate numerous splicing defects. Beside SSMs, one can pro

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Shepard, Jeremiah, Martin Reick, Sara Olson, and Brenton R. Graveley. "Characterization of U2AF6, a Splicing Factor Related to U2AF35." Molecular and Cellular Biology 22, no. 1 (2002): 221–30. http://dx.doi.org/10.1128/mcb.22.1.221-230.2002.

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ABSTRACT The essential splicing factor U2AF (U2 auxiliary factor) is a heterodimer composed of 65-kDa (U2AF65) and 35-kDa (U2AF35) subunits. U2AF35 has multiple functions in pre-mRNA splicing. First, U2AF35 has been shown to function by directly interacting with the AG at the 3′ splice site. Second, U2AF35 is thought to play a role in the recruitment of U2AF65 by serine-arginine-rich (SR) proteins in enhancer-dependent splicing. It has been proposed that the physical interaction between the arginine-serine-rich (RS) domain of U2AF35 and SR proteins is important for this activity. However, othe

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Gault, Christine M., Federico Martin, Wenbin Mei, et al. "Aberrant splicing in maize rough endosperm3 reveals a conserved role for U12 splicing in eukaryotic multicellular development." Proceedings of the National Academy of Sciences 114, no. 11 (2017): E2195—E2204. http://dx.doi.org/10.1073/pnas.1616173114.

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RNA splicing of U12-type introns functions in human cell differentiation, but it is not known whether this class of introns has a similar role in plants. The maize ROUGH ENDOSPERM3 (RGH3) protein is orthologous to the human splicing factor, ZRSR2. ZRSR2 mutations are associated with myelodysplastic syndrome (MDS) and cause U12 splicing defects. Maize rgh3 mutants have aberrant endosperm cell differentiation and proliferation. We found that most U12-type introns are retained or misspliced in rgh3. Genes affected in rgh3 and ZRSR2 mutants identify cell cycle and protein glycosylation as common p

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Kohlmann, Alexander, Sandra Weissmann, Ulrike Schoeck, et al. "First Results of a 31-Gene Panel Targeted to Investigate Myeloid Malignancies by Next-Generation Amplicon Deep-Sequencing." Blood 120, no. 21 (2012): 883. http://dx.doi.org/10.1182/blood.v120.21.883.883.

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Abstract Abstract 883 Introduction: Massively parallel next-generation sequencing data have changed the landscape of molecular mutations in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). The number of molecular markers used to characterize myeloid malignancies continues to constantly increase. As such, physicians and laboratories face a great unmet need to test panels of genes at a high level of sensitivity and throughput. Methods: We developed a sensitive next-generation deep-sequencing assay for routine diagnostics. In total, 31 genes with relevance in myeloid malignancies

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Chen, Xiaofeng, Dongling Cai, Hao Li, et al. "Exosomal U2AF2 derived from human bone marrow mesenchymal stem cells attenuates the intervertebral disc degeneration through circ_0036763/miR-583/ACAN axis." Regenerative Therapy 25 (March 2024): 344–54. http://dx.doi.org/10.1016/j.reth.2024.01.006.

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38

Zhao, Yangjing, Weili Cai, Ye Hua, Xiaochen Yang, and Jingdong Zhou. "The Biological and Clinical Consequences of RNA Splicing Factor U2AF1 Mutation in Myeloid Malignancies." Cancers 14, no. 18 (2022): 4406. http://dx.doi.org/10.3390/cancers14184406.

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Mutations of spliceosome genes have been frequently identified in myeloid malignancies with the large-scale application of advanced sequencing technology. U2 small nuclear RNA auxiliary factor 1 (U2AF1), an essential component of U2AF heterodimer, plays a pivotal role in the pre-mRNA splicing processes to generate functional mRNAs. Over the past few decades, the mutation landscape of U2AF1 (most frequently involved S34 and Q157 hotspots) has been drawn in multiple cancers, particularly in myeloid malignancies. As a recognized early driver of myelodysplastic syndromes (MDSs), U2AF1 mutates most

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Boddu, Prajwal, Abhishek Gupta, Rahul Roy, et al. "Impaired Early Spliceosome Complex Assembly Underlies Gene Body Elongation Transcription Defect in SF3B1K700E." Blood 142, Supplement 1 (2023): 714. http://dx.doi.org/10.1182/blood-2023-187303.

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Introduction: Recurrent mutations in splicing factors (SFs) such as SF3B1, U2AF1 and SRSF2 are common in clonal myeloid disorders. These mutations are typically hemizygous, exclusive to each other, and non-synonymous, pointing to neomorphic functions. Molecular mechanisms connecting the mutations to disease pathogenesis remain unclear. Previous studies predominantly focused on the well-established role of splicing factors in pre-mRNA splicing, seeking to explain how mutations in these SFs leading to changes in the abundance of key regulatory genes through their effects on alternative splicing.

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Vandermeulen, Charlotte, Tina O’Grady, Jerome Wayet, et al. "The HTLV-1 viral oncoproteins Tax and HBZ reprogram the cellular mRNA splicing landscape." PLOS Pathogens 17, no. 9 (2021): e1009919. http://dx.doi.org/10.1371/journal.ppat.1009919.

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Viral infections are known to hijack the transcription and translation of the host cell. However, the extent to which viral proteins coordinate these perturbations remains unclear. Here we used a model system, the human T-cell leukemia virus type 1 (HTLV-1), and systematically analyzed the transcriptome and interactome of key effectors oncoviral proteins Tax and HBZ. We showed that Tax and HBZ target distinct but also common transcription factors. Unexpectedly, we also uncovered a large set of interactions with RNA-binding proteins, including the U2 auxiliary factor large subunit (U2AF2), a ke

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Ozygała, Aleksandra, Joanna Rokosz-Mierzwa, Paulina Widz, et al. "Biological Markers of Myeloproliferative Neoplasms in Children, Adolescents and Young Adults." Cancers 16, no. 23 (2024): 4114. https://doi.org/10.3390/cancers16234114.

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Myeloproliferative neoplasms (MPNs) are clonal hematopoietic cancers characterized by hyperproliferation of the myeloid lineages. These clonal marrow disorders are extremely rare in pediatric patients. MPN is reported to occur 100 times more frequently in adults, and thus research is primarily focused on this patient group. At present, modern diagnostic techniques, primarily genetic, facilitate the identification of the biology of these diseases. The key genes are JAK2, MPL, and CALR, namely, driver mutations, which are present in approximately 90% of patients with suspected MPN. Moreover, the

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Soucek, Sharon, Yi Zeng, Deepti L. Bellur, et al. "Evolutionarily Conserved Polyadenosine RNA Binding Protein Nab2 Cooperates with Splicing Machinery To Regulate the Fate of Pre-mRNA." Molecular and Cellular Biology 36, no. 21 (2016): 2697–714. http://dx.doi.org/10.1128/mcb.00402-16.

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Numerous RNA binding proteins are deposited onto an mRNA transcript to modulate posttranscriptional processing events ensuring proper mRNA maturation. Defining the interplay between RNA binding proteins that couple mRNA biogenesis events is crucial for understanding how gene expression is regulated. To explore how RNA binding proteins control mRNA processing, we investigated a role for the evolutionarily conserved polyadenosine RNA binding protein, Nab2, in mRNA maturation within the nucleus. This study reveals thatnab2mutant cells accumulate intron-containing pre-mRNAin vivo. We extend this a

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Wang, S. Y., J. L. Huo, Y. W. Miao, W. M. Cheng, and Y. Z. Zeng. "Complementary DNA cloning, sequence analysis, and tissue transcription profile of a novel U2AF2 gene from the Chinese Banna mini-pig inbred line." Genetics and Molecular Research 12, no. 2 (2013): 925–34. http://dx.doi.org/10.4238/2013.april.2.9.

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Li, Jing, Dongdong Cheng, Miaoxin Zhu, et al. "OTUB2 stabilizes U2AF2 to promote the Warburg effect and tumorigenesis via the AKT/mTOR signaling pathway in non-small cell lung cancer." Theranostics 9, no. 1 (2019): 179–95. http://dx.doi.org/10.7150/thno.29545.

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Przychodzen, Bartlomiej P., Hideki Makishima, Andres Jerez, Richard A. Padgett, and Jaroslaw P. Maciejewski. "Downstream Consequences of U2AF1 Mutations in MDS Are a Result of a Specific Misplicing Patterns Due to Faulty Recognition of 3'acceptor Splice Site." Blood 120, no. 21 (2012): 3517. http://dx.doi.org/10.1182/blood.v120.21.3517.3517.

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Abstract Abstract 3517 Recently, various spliceosomal mutations have been identified in myeloid neoplasms, in particular MDS, MDS/MPN and sAML evolving from these conditions. While functionally related, because they all affect the spliceosomal machinery, they are present in various clinical contexts. Thus, the downstream consequences of individual mutations may be diverse and involve likely specific oncogenic pathways. Because of an altered splicing pattern they create, spliceosomal mutations can be best referred as to “change of function mutations”. It is likely that phenotypic differences be

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Lu, Sydney X., Eric Wang, Alessandro Pastore, et al. "Therapeutic Targeting of an RNA Splicing Factor Network for the Treatment of Myeloid Neoplasms." Blood 132, Supplement 1 (2018): 427. http://dx.doi.org/10.1182/blood-2018-99-111430.

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Abstract RNA-binding proteins (RBPs) regulate many aspects of transcription and translation in a cell- and tissue-specific manner and are frequently dysregulated in malignancy. We systematically evaluated RBPs preferentially required in acute myeloid leukemia (AML) over other forms of cancer or normal hematopoietic precursors using a CRISPR/Cas9 domain-based, loss-of-function screen targeting 490 classical RBPs with 2,900 sgRNAs (Fig. A). This screen was performed in cells lines representing AML, T-cell acute lymphoblastic leukemia (T-ALL), and lung adenocarcinoma (LUAD) and revealed multiple

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Whisenant, Thomas C., Eigen R. Peralta, Lauren D. Aarreberg, et al. "The Activation-Induced Assembly of an RNA/Protein Interactome Centered on the Splicing Factor U2AF2 Regulates Gene Expression in Human CD4 T Cells." PLOS ONE 10, no. 12 (2015): e0144409. http://dx.doi.org/10.1371/journal.pone.0144409.

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Bogusz, Agata M. "EBV-Negative Monomorphic B-Cell Posttransplant Lymphoproliferative Disorder with Marked Morphologic Pleomorphism and Pathogenic Mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53." Case Reports in Hematology 2017 (2017): 1–8. http://dx.doi.org/10.1155/2017/5083463.

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Posttransplant lymphoproliferative disorders (PTLDs) are a diverse group of lymphoid or plasmacytic proliferations frequently driven by Epstein-Barr virus (EBV). EBV-negative PTLDs appear to represent a distinct entity. This report describes an unusual case of a 33-year-old woman that developed a monomorphic EBV-negative PTLD consistent with diffuse large B-cell lymphoma (DLBCL) 13 years after heart-lung transplant. Histological examination revealed marked pleomorphism of the malignant cells including nodular areas reminiscent of classical Hodgkin lymphoma (cHL) with abundant large, bizarre Ho

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Adema, Vera, Courtney E. Hershberger, Wencke Walter, et al. "Hotspot U2AF1 Mutations Determine Missplicing Selectivity: Novel Mechanisms Altering Splicing Factors." Blood 134, Supplement_1 (2019): 2985. http://dx.doi.org/10.1182/blood-2019-129367.

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Mutations in splicing factor genes (SF3B1, SRSF2, U2AF1, and ZRSR2) are identified in over 50% of patients diagnosed with myelodysplastic syndrome (MDS). U2AF1 is a U2 auxiliary factor that forms a heterodimer with U2AF2 for the recognition of the 3' splice site (SS) and results in the subsequent recruitment of U2snRNPs during pre mRNA splicing. U2AF1 mutations are present in 11% of MDS and its presence is correlated with an increased risk of progression to AML. Non-canonical mutations are rarely seen in U2AF1 but two highly conserved hotspots (S34, Q157) are frequently seen and result in dist

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Correa, Juan Gonzalo, Alberto Alvarez-Larrán, Monica Lopez-Guerra, et al. "Triple Negative Myelofibrosis and Myelodysplastic Syndrome with Fibrosis: Clinico-Biological Characterization and Correlation with Gene Mutations." Blood 132, Supplement 1 (2018): 4299. http://dx.doi.org/10.1182/blood-2018-99-115888.

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Abstract Introduction: Triple negative primary myelofibrosis (TN-PMF) and myelodysplastic syndromes with fibrosis (F-MDS) are rare entities, often difficult to distinguish each other. Currently, no specific molecular markers allowing a precise differential diagnosis are available. In this sense, next generation techniques (NGS) might be useful to distinguish between both entities and to refine prognosis. Methods: Thirty-nine patients with TN-PMF (n=16) or F-MDS (n=23) were analyzed, Targeted NGS was performed in 28 cases (10 TN-PMF and 18 F-MDS) using the Sophia Genetics Myeloid Tumor Solution

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