A novel, non-canonical splice variant of the Ikaros gene is aberrantly expressed in B-cell lymphoproliferative disorders

PLoS One. 2013 Jul 9;8(7):e68080. doi: 10.1371/journal.pone.0068080. Print 2013.

Abstract

The Ikaros gene encodes a Krüppel-like zinc-finger transcription factor involved in hematopoiesis regulation. Ikaros has been established as one of the most clinically relevant tumor suppressors in several hematological malignancies. In fact, expression of dominant negative Ikaros isoforms is associated with adult B-cell acute lymphoblastic leukemia, myelodysplastic syndrome, acute myeloid leukemia and adult and juvenile chronic myeloid leukemia. Here, we report the isolation of a novel, non-canonical Ikaros splice variant, called Ikaros 11 (Ik11). Ik11 is structurally related to known dominant negative Ikaros isoforms, due to the lack of a functional DNA-binding domain. Interestingly, Ik11 is the first Ikaros splice variant missing the transcriptional activation domain. Indeed, we demonstrated that Ik11 works as a dominant negative protein, being able to dimerize with Ikaros DNA-binding isoforms and inhibit their functions, at least in part by retaining them in the cytoplasm. Notably, we demonstrated that Ik11 is the first dominant negative Ikaros isoform to be aberrantly expressed in B-cell lymphoproliferative disorders, such as chronic lymphocytic leukemia. Aberrant expression of Ik11 interferes with both proliferation and apoptotic pathways, providing a mechanism for Ik11 involvement in tumor pathogenesis. Thus, Ik11 could represent a novel marker for B-cell lymphoproliferative disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing*
  • Amino Acid Sequence
  • Animals
  • Apoptosis / genetics
  • B-Lymphocytes / metabolism*
  • B-Lymphocytes / pathology*
  • Cell Line
  • Cell Proliferation
  • Exons
  • Gene Expression
  • Gene Expression Regulation*
  • Genes, Dominant
  • Humans
  • Ikaros Transcription Factor / chemistry
  • Ikaros Transcription Factor / genetics*
  • Ikaros Transcription Factor / metabolism
  • Intracellular Space / metabolism
  • Lymph Nodes / metabolism
  • Lymphocyte Subsets / metabolism
  • Lymphoproliferative Disorders / genetics*
  • Lymphoproliferative Disorders / metabolism
  • Molecular Sequence Data
  • Organ Specificity / genetics
  • Protein Transport
  • RNA Isoforms
  • Sequence Alignment

Substances

  • RNA Isoforms
  • Ikaros Transcription Factor

Grants and funding

This work was supported by The Italian Ministry of Education, University and Research Fund for Investments in Basic Research MIUR-FIRB grant No. RBAP10A9H9 to E.A. and to A.G. (http://firb.miur.it/) and by MIUR-PRIN grant No. 2009EWAW4M_003 to F.Z. (http://prin.miur.it/). D.V. was supported by the Ph.D. program in Experimental Medicine, and M.F. was supported by the Ph.D program in Biotechnology. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.