Three distinct domains in TEL-AML1 are required for transcriptional repression of the IL-3 promoter

Oncogene. 1999 Jan 28;18(4):1015-22. doi: 10.1038/sj.onc.1202383.

Abstract

A cytogenetically cryptic (12;21) translocation is the most common molecular abnormality identified in childhood acute lymphoblastic leukemia (ALL), and it generates a chimeric TEL-AML1 protein. Fusion of the Helix-Loop-Helix (HLH) (also called the pointed) domain of TEL to AML1 has been suggested to convert AML1 from a transcriptional activator to a repressor. To define the structural features of this chimeric protein required for repression, we analysed the transcriptional activity of a series of TEL-AML1 mutants on the AML1-responsive interleukin-3 (IL-3) promoter, a potentially relevant gene target. Our results demonstrate that TEL-AML1 represses basal IL-3 promoter activity in lymphoid cells, and deletion mutant analysis identified three distinct domains of TEL-AML1 that are required for repression; the HLH (pointed) motif contained in the TEL portion of TEL-AML1, and both the runt homology domain (Rhd) and the 74 amino acids downstream of the Rhd that are present in the AML1 portion of the fusion protein. Although AML1B (and a shorter AML1 isoform, AML1A) have transcriptional activating activity on the IL-3 promoter, fusion of the AML1 gene to the TEL gene generates a repressor of IL-3 expression. Consistent with this activity, freshly isolated human ALL cells that contain TEL-AML1 do not express IL-3.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Child
  • Core Binding Factor Alpha 2 Subunit
  • Humans
  • Interleukin-3 / chemistry
  • Interleukin-3 / metabolism*
  • Neoplasm Proteins / chemistry
  • Neoplasm Proteins / genetics
  • Neoplasm Proteins / physiology*
  • Oncogene Proteins, Fusion*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics
  • Repressor Proteins / chemistry
  • Repressor Proteins / genetics
  • Repressor Proteins / physiology*
  • Transcriptional Activation
  • Translocation, Genetic*

Substances

  • Core Binding Factor Alpha 2 Subunit
  • Interleukin-3
  • Neoplasm Proteins
  • Oncogene Proteins, Fusion
  • Repressor Proteins
  • TEL-AML1 fusion protein