splicing factor u2af


Summary: An RNA splicing factor that performs a critical function in both constitutive and enhancer-dependent RNA SPLICING. It recruits RIBONUCLEOPROTEIN, U2 SMALL NUCLEAR to the splice site and mediates interactions between it, the RNA molecule, and other splicing factors for accurate 3'-splice site selection.

Top Publications

  1. Barraco D, Elala Y, Lasho T, Begna K, Gangat N, Finke C, et al. Molecular correlates of anemia in primary myelofibrosis: a significant and independent association with U2AF1 mutations. Blood Cancer J. 2016;6:e415 pubmed publisher
  2. Vagner S, Vagner C, Mattaj I. The carboxyl terminus of vertebrate poly(A) polymerase interacts with U2AF 65 to couple 3'-end processing and splicing. Genes Dev. 2000;14:403-13 pubmed
    ..The carboxy-terminal domain of PAP makes a direct and specific interaction with residues 17-47 of U2AF 65, implicating this interaction in the coupling of splicing and 3'-end formation. ..
  3. Tefferi A, Finke C, Lasho T, Wassie E, Knudson R, Ketterling R, et al. U2AF1 mutations in primary myelofibrosis are strongly associated with anemia and thrombocytopenia despite clustering with JAK2V617F and normal karyotype. Leukemia. 2014;28:431-3 pubmed publisher
  4. Shen W, Clemente M, Hosono N, Yoshida K, Przychodzen B, Yoshizato T, et al. Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria. J Clin Invest. 2014;124:4529-38 pubmed publisher
    ..Together, our data indicate that in addition to PIGA mutations, accessory genetic events are frequent in PNH, suggesting a stepwise clonal evolution derived from a singular stem cell clone. ..
  5. Yip B, Steeples V, Repapi E, Armstrong R, Llorian M, Roy S, et al. The U2AF1S34F mutation induces lineage-specific splicing alterations in myelodysplastic syndromes. J Clin Invest. 2017;127:2206-2221 pubmed publisher
    ..These data have critical implications for understanding MDS phenotypic heterogeneity and support the development of therapies targeting splicing abnormalities. ..
  6. 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. ..
  7. Preußner M, Goldammer G, Neumann A, Haltenhof T, Rautenstrauch P, Müller McNicoll M, et al. Body Temperature Cycles Control Rhythmic Alternative Splicing in Mammals. Mol Cell. 2017;67:433-446.e4 pubmed publisher
    ..Together our data establish body temperature-driven AS as a core clock-independent oscillator in mammalian peripheral clocks. ..
  8. Durham B, Getta B, Dietrich S, Taylor J, Won H, Bogenberger J, et al. Genomic analysis of hairy cell leukemia identifies novel recurrent genetic alterations. Blood. 2017;130:1644-1648 pubmed publisher
    ..These data provide further insight into the genetic bases of cHCL and vHCL and mechanisms of RAF inhibitor resistance encountered clinically. ..
  9. Glasser E, Agrawal A, Jenkins J, Kielkopf C. Cancer-Associated Mutations Mapped on High-Resolution Structures of the U2AF2 RNA Recognition Motifs. Biochemistry. 2017;56:4757-4761 pubmed publisher
    ..Although the role of U2AF2 mutations in malignant transformation remains uncertain, our results show that cancer-associated mutations correlate with functionally important surfaces of the U2AF2 splicing factor. ..

More Information


  1. Kim S, Kim K, Hwang B, Im K, Park S, Kim J, et al. The high frequency of the U2AF1 S34Y mutation and its association with isolated trisomy 8 in myelodysplastic syndrome in Asians, but not in Caucasians. Leuk Res. 2017;61:96-103 pubmed publisher
    ..The impact and causal relationship between U2AF1 S34 and trisomy 8 need to be elucidated, which might contribute to design of tailored treatments. ..