Experts and Doctors on rna splicing in Houston, Texas, United States


Locale: Houston, Texas, United States
Topic: rna splicing

Top Publications

  1. Auboeuf D, Dowhan D, Li X, Larkin K, Ko L, Berget S, et al. CoAA, a nuclear receptor coactivator protein at the interface of transcriptional coactivation and RNA splicing. Mol Cell Biol. 2004;24:442-53 pubmed
    ..This contributes to the promoter-preferential effects mediated by CoAA on RNA splicing during the course of steroid hormone action. ..
  2. Kennedy C, Berget S. Pyrimidine tracts between the 5' splice site and branch point facilitate splicing and recognition of a small Drosophila intron. Mol Cell Biol. 1997;17:2774-80 pubmed
    ..Thus, a very short intron lacking a classical pyrimidine tract between the branch point and 3' splice site requires accessory pyrimidine sequences in the short region between the 5' splice site and branch point. ..
  3. Sterner D, Murphy E. Regulation of the efficiency and thermodependence of murine sarcoma virus MuSVts110 RNA splicing by sequences in both exons. Virology. 1992;191:638-48 pubmed
  4. Singh G, Charlet B N, Han J, Cooper T. ETR-3 and CELF4 protein domains required for RNA binding and splicing activity in vivo. Nucleic Acids Res. 2004;32:1232-41 pubmed
    ..These results identify specific regions of ETR-3 and CELF4 that are likely targets of protein-protein interactions required for splicing activation. ..
  5. Reecy J, Li X, Yamada M, DeMayo F, Newman C, Harvey R, et al. Identification of upstream regulatory regions in the heart-expressed homeobox gene Nkx2-5. Development. 1999;126:839-49 pubmed
    ..Dissection of these elements should reveal essential features of cardiac induction and positive and negative signaling within the cardiac field. ..
  6. Shi Z, Habib G, Rhead W, Gahl W, He X, Sazer S, et al. Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. Nat Genet. 1996;14:361-5 pubmed
    ..Our data provide the first molecular genetic analysis of 5-oxoprolinuria and demonstrate that GSS deficiency with oxoprolinuria and GSS deficiency without 5-oxoprolinuria are caused by mutations in the same gene. ..
  7. Cooper T, Wan L, Dreyfuss G. RNA and disease. Cell. 2009;136:777-93 pubmed publisher
    ..The discovery of disease-causing mutations in RNAs is yielding a wealth of new therapeutic targets, and the growing understanding of RNA biology and chemistry is providing new RNA-based tools for developing therapeutics. ..
  8. Baehr W, Champagne M, Lee A, Pittler S. Complete cDNA sequences of mouse rod photoreceptor cGMP phosphodiesterase alpha- and beta-subunits, and identification of beta'-, a putative beta-subunit isozyme produced by alternative splicing of the beta-subunit gene. FEBS Lett. 1991;278:107-14 pubmed
    ..A 300 residue segment thought to contain the active site is present in the C-terminal half of alpha, beta and beta'. ..
  9. Rho S, Lincecum T, Martinis S. An inserted region of leucyl-tRNA synthetase plays a critical role in group I intron splicing. EMBO J. 2002;21:6874-81 pubmed
    ..However, these results suggest that elements within the LeuRS CP1 domain also play a novel role, independent of the full-length tRNA synthetase, in binding the bI4 group I intron and facilitating its self-splicing activity. ..

More Information


  1. Shao H, Quintero A, Tweardy D. Identification and characterization of cis elements in the STAT3 gene regulating STAT3 alpha and STAT3 beta messenger RNA splicing. Blood. 2001;98:3853-6 pubmed
    ..Two additional cryptic 3' ASs (delta and epsilon) were also identified. Thus, we identified for the first time the cis regulatory sequences responsible for generation of STAT3 alpha and STAT3 beta mRNA. ..
  2. Rozovski U, Keating M, Estrov Z. The significance of spliceosome mutations in chronic lymphocytic leukemia. Leuk Lymphoma. 2013;54:1364-6 pubmed publisher
  3. Young J, Hong E, Castle J, Crespo Barreto J, Bowman A, Rose M, et al. Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. Proc Natl Acad Sci U S A. 2005;102:17551-8 pubmed
    ..Thus, we uncovered a previously uncharacterized function of MeCP2 that involves regulation of splicing, in addition to its role as a transcriptional repressor. ..
  4. Schulz R, Hogue D, The S. Characterization of lethal alleles of D-elg, an ets proto-oncogene related gene with multiple functions in Drosophila development. Oncogene. 1993;8:3369-74 pubmed
    ..The cloning and sequencing of the lethal alleles identified molecular mutations that may result in ELG protein truncation, altered ELG protein interactions, or defective D-elg mRNA splicing. ..
  5. Chang Y, Imam J, Wilkinson M. The nonsense-mediated decay RNA surveillance pathway. Annu Rev Biochem. 2007;76:51-74 pubmed
  6. de Mars M, Cizdziel P, Murphy E. Activation of cryptic splice sites in murine sarcoma virus-124 mutants. J Virol. 1990;64:5260-9 pubmed
  7. McCutcheon I, Hentschel S, Fuller G, Jin W, Cote G. Expression of the splicing regulator polypyrimidine tract-binding protein in normal and neoplastic brain. Neuro Oncol. 2004;6:9-14 pubmed
    ..Whether PTB affects splicing of RNAs critical to cellular transformation or proliferation is an important question for future research. ..
  8. Faustino N, Cooper T. Pre-mRNA splicing and human disease. Genes Dev. 2003;17:419-37 pubmed
  9. Xu W, Edmondson D, Roth S. Mammalian GCN5 and P/CAF acetyltransferases have homologous amino-terminal domains important for recognition of nucleosomal substrates. Mol Cell Biol. 1998;18:5659-69 pubmed
    ..Thus, the unique amino-terminal domains of mammalian P/CAF and GCN5 may provide additional functions important to recognition of chromatin substrates and the regulation of gene expression. ..
  10. Qiu Y, Chen C, Malone T, Richter L, Beckendorf S, Davis R. Characterization of the memory gene dunce of Drosophila melanogaster. J Mol Biol. 1991;222:553-65 pubmed
    ..The results suggest that the remarkable structural complexity of dnc may reflect an intricate control of the spatial and/or temporal expression of various isoforms of cAMP PDEase. ..
  11. Singh R, Cooper T. Pre-mRNA splicing in disease and therapeutics. Trends Mol Med. 2012;18:472-82 pubmed publisher
    ..In addition to discussing the disorders caused by these mutations, this review summarizes therapeutic approaches that have emerged to correct splicing of individual genes or target the splicing machinery. ..
  12. Talerico M, Berget S. Intron definition in splicing of small Drosophila introns. Mol Cell Biol. 1994;14:3434-45 pubmed
    ..We propose that splice sites can be recognized as pairs across either exons or introns, depending on which distance is shorter, and that a pyrimidine-rich region upstream of the 3' splice site facilitates the exon mode. ..
  13. de Mars M, Cizdziel P, Murphy E. Activation of thermosensitive RNA splicing and production of a heat-labile P85gag-mos kinase by the introduction of a specific deletion in murine sarcoma virus-124 DNA. J Virol. 1988;62:1907-16 pubmed
  14. Bachinski L, Sirito M, Böhme M, Baggerly K, Udd B, Krahe R. Altered MEF2 isoforms in myotonic dystrophy and other neuromuscular disorders. Muscle Nerve. 2010;42:856-63 pubmed publisher
    ..Our findings demonstrate that aberrant splicing in NMD is independent from expression of mutant repeats, and suggests that some aberrant splicing, even in DM, may be compensatory rather than primary. ..
  15. Meng Q, Rayala S, Gururaj A, Talukder A, O Malley B, Kumar R. Signaling-dependent and coordinated regulation of transcription, splicing, and translation resides in a single coregulator, PCBP1. Proc Natl Acad Sci U S A. 2007;104:5866-71 pubmed
    ..These findings establish the principle that a single coregulator can function as a signal-dependent and coordinated regulator of transcription, splicing, and translation. ..
  16. Orengo J, Chambon P, Metzger D, Mosier D, Snipes G, Cooper T. Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy. Proc Natl Acad Sci U S A. 2008;105:2646-51 pubmed publisher
    ..Our results indicate that increased CUGBP1 protein levels are associated with DMPK-CUG RNA expression, suggesting a role for CUGBP1-specific splicing or cytoplasmic functions in muscle wasting. ..
  17. Lou H, Helfman D, Gagel R, Berget S. Polypyrimidine tract-binding protein positively regulates inclusion of an alternative 3'-terminal exon. Mol Cell Biol. 1999;19:78-85 pubmed
  18. Ho T, Bundman D, Armstrong D, Cooper T. Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy. Hum Mol Genet. 2005;14:1539-47 pubmed
    ..The results are consistent with a mechanism for DM pathogenesis in which expanded repeats result in increased CUG-BP1 activity and/or other CELF family members and have trans-dominant effects on specific pre-mRNA targets. ..
  19. Challen G, Goodell M. Runx1 isoforms show differential expression patterns during hematopoietic development but have similar functional effects in adult hematopoietic stem cells. Exp Hematol. 2010;38:403-16 pubmed publisher
  20. Chen K, Deng S, Lü H, Zheng Y, Yang G, Kim D, et al. RNA-seq characterization of spinal cord injury transcriptome in acute/subacute phases: a resource for understanding the pathology at the systems level. PLoS ONE. 2013;8:e72567 pubmed publisher
    ..In summary, these results provide a valuable reference data resource for a better understanding of the SCI process in the acute and sub-acute phases. ..
  21. Xia Z, Wen J, Chang C, Zhou X. NSMAP: a method for spliced isoforms identification and quantification from RNA-Seq. BMC Bioinformatics. 2011;12:162 pubmed publisher
    ..NSMAP package is freely available at ..
  22. Ji J, Dimmock D, Tang L, Descartes M, Gomez R, Rutledge S, et al. A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping. Mitochondrion. 2010;10:188-91 pubmed publisher
    ..The parents were subsequently confirmed to be carriers of this mutation. In summary, we have demonstrated that c.592-4_c.592-3delTT is a pathogenic splice acceptor site mutation leading to DGUOK deficiency. ..
  23. Cunningham G, Headon D, Conneely O. Structural organization of the mouse lactoferrin gene. Biochem Biophys Res Commun. 1992;189:1725-31 pubmed
    ..2 kb to 4.3 kb. Structural analysis of the mouse lactoferrin gene reveals that this gene shares a similar intron-exon distribution pattern with both human transferrin and chicken ovotransferrin. ..
  24. Chandler D, Qi J, Mattox W. Direct repression of splicing by transformer-2. Mol Cell Biol. 2003;23:5174-85 pubmed
    ..Although required for repression, the element also enhances M1 splicing in the absence of Tra2. We propose that Tra2 represses M1 splicing by interacting with multiple sequences in the pre-mRNA and interfering with enhancer function. ..
  25. de Mars M, Sterner D, Chiocca S, Biggart N, Murphy E. Regulation of RNA splicing in gag-deficient mutants of Moloney murine sarcoma virus MuSVts110. J Virol. 1990;64:1421-8 pubmed
    ..These experiments indicated that neither the MuSVts110 P58gag protein nor any other viral gene product acts in trans to regulate MuSVts110 splicing...
  26. Thomas P, Cote G, Wohllk N, Haddad B, Mathew P, Rabl W, et al. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science. 1995;268:426-9 pubmed
    ..Both mutations resulted in aberrant processing of the RNA sequence and disruption of the putative second nucleotide binding domain of the SUR protein. Abnormal insulin secretion in PHHI appears to be caused by mutations in the SUR gene...
  27. Cheung P, Culic O, Qiu Y, Earley K, Thompson N, Hixson D, et al. The cytoplasmic domain of C-CAM is required for C-CAM-mediated adhesion function: studies of a C-CAM transcript containing an unspliced intron. Biochem J. 1993;295 ( Pt 2):427-35 pubmed
    ..Although C-CAM3 cDNA contains the polyadenylation signal and is polyadenylated, these results indicate that C-CAM3 is probably an incomplete spliced product of C-CAM1 gene. ..
  28. Burgess D, Jones J, Meisler M, Noebels J. Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse. Cell. 1997;88:385-92 pubmed
    ..The lethargic phenotype is the first example of a mammalian neurological disease caused by an inherited defect in a non-pore-forming subunit of a voltage-gated ion channel. ..
  29. Wang L, Worley K, Gannavarapu A, Chintagumpala M, Levy M, Plon S. Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. Am J Hum Genet. 2002;71:165-7 pubmed
    ..Thus, monitoring of intron size may allow detection of mutations missed by exon-by-exon approaches. ..
  30. Bowman T, McCooey A, Merchant A, Ramos C, Fonseca P, Poindexter A, et al. Differential mRNA processing in hematopoietic stem cells. Stem Cells. 2006;24:662-70 pubmed
    ..This change in unspliced transcript level coordinated with increases in gene expression of splicing machinery components. Combined, these results suggest that post-transcriptional regulation is important in HSC activation in vivo. ..
  31. Robberson B, Cote G, Berget S. Exon definition may facilitate splice site selection in RNAs with multiple exons. Mol Cell Biol. 1990;10:84-94 pubmed
  32. Gibbs R, Nguyen P, McBride L, Koepf S, Caskey C. Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci U S A. 1989;86:1919-23 pubmed
    ..The application of these procedures allows DNA diagnosis and carrier identification by the direct detection of the mutant alleles within individual families affected by LN. ..
  33. Ward A, Cooper T. The pathobiology of splicing. J Pathol. 2010;220:152-63 pubmed publisher
    ..An understanding of the role of splicing in disease expands potential opportunities for therapeutic intervention by either directly addressing the cause or by providing novel approaches to circumvent disease processes. ..
  34. Shin S, Steffen D. Frequent activation of the lck gene by promoter insertion and aberrant splicing in murine leukemia virus-induced rat lymphomas. Oncogene. 1993;8:141-9 pubmed
    ..The significance of these unusual splicing patterns and of the higher frequency of proviral insertions adjacent to lck in rats relative to mice is discussed. ..
  35. Qi J, Su S, Mattox W. The doublesex splicing enhancer components Tra2 and Rbp1 also repress splicing through an intronic silencer. Mol Cell Biol. 2007;27:699-708 pubmed publisher
    ..Our results suggest that functionally synergistic interactions of these SR factors can cause either splicing activation or repression...
  36. McCullough A, Berget S. An intronic splicing enhancer binds U1 snRNPs to enhance splicing and select 5' splice sites. Mol Cell Biol. 2000;20:9225-35 pubmed
    ..We suggest that the G-rich region near vertebrate 5' splice sites promotes accurate splice site recognition by recruiting the U1 snRNP. ..
  37. Dauwalder B, Amaya Manzanares F, Mattox W. A human homologue of the Drosophila sex determination factor transformer-2 has conserved splicing regulatory functions. Proc Natl Acad Sci U S A. 1996;93:9004-9 pubmed
  38. Zhang N, Kaur R, Lu X, Shen X, Li L, Legerski R. The Pso4 mRNA splicing and DNA repair complex interacts with WRN for processing of DNA interstrand cross-links. J Biol Chem. 2005;280:40559-67 pubmed
    ..In addition, we show that WRN and the Pso4 complex interact through a direct physical association between WRN and Cdc5L. A putative model for uncoupling of ICLs in mammalian cells is presented. ..
  39. Coulter L, Landree M, Cooper T. Identification of a new class of exonic splicing enhancers by in vivo selection. Mol Cell Biol. 1997;17:2143-50 pubmed
    ..We suggest the possibility that the dsx enhancer is a member of a previously unrecognized family of ACEs. ..
  40. Bies R, Phelps S, Cortez M, Roberts R, Caskey C, Chamberlain J. Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain development. Nucleic Acids Res. 1992;20:1725-31 pubmed
    ..These isoforms may be of significance in understanding the various tissue-specific effects produced by dystrophin gene mutations in Duchenne and Becker muscular dystrophy patients. ..
  41. Marchesini M, Ogoti Y, Fiorini E, Aktaş Samur A, Nezi L, D Anca M, et al. ILF2 Is a Regulator of RNA Splicing and DNA Damage Response in 1q21-Amplified Multiple Myeloma. Cancer Cell. 2017;32:88-100.e6 pubmed publisher
    ..The intimate link between 1q21-amplified ILF2 and the regulation of RNA splicing of DNA repair genes may be exploited to optimize the use of DNA-damaging agents in patients with high-risk MM. ..
  42. Perez Reyes E, Wei X, Castellano A, Birnbaumer L. Molecular diversity of L-type calcium channels. Evidence for alternative splicing of the transcripts of three non-allelic genes. J Biol Chem. 1990;265:20430-6 pubmed
    ..These results demonstrate that calcium channel diversity is created by both the expression of distinct genes and the alternate splicing of these genes...
  43. Leonard D, Ajuh P, Lamond A, Legerski R. hLodestar/HuF2 interacts with CDC5L and is involved in pre-mRNA splicing. Biochem Biophys Res Commun. 2003;308:793-801 pubmed
    ..Although many members of the DExH/D helicase superfamily have been linked to pre-mRNA splicing, this is the first SNF2 family member to be implicated in this pathway. ..
  44. Choi H, Choi H, Jung S, Hyle J, Kim B, Yoon K, et al. CHK2 kinase promotes pre-mRNA splicing via phosphorylating CDK11(p110). Oncogene. 2014;33:108-15 pubmed publisher
    ..Mutation of the phosphorylation site in CDK11(p110) to alanine abrogated its splicing-activating activity. These results provide the first evidence that CHK2 kinase promotes pre-mRNA splicing via phosphorylating CDK11(p110). ..
  45. Huai L, Chiocca S, Gilbreth M, Ainsworth J, Bishop L, Murphy E. Moloney murine sarcoma virus MuSVts110 DNA: cloning, nucleotide sequence, and gene expression. J Virol. 1992;66:5329-37 pubmed