Intergenic splicing of MDS1 and EVI1 occurs in normal tissues as well as in myeloid leukemia and produces a new member of the PR domain family

Proc Natl Acad Sci U S A. 1996 Feb 20;93(4):1642-7. doi: 10.1073/pnas.93.4.1642.


The EVI1 gene, located at chromosome band 3q26, is overexpressed in some myeloid leukemia patients with breakpoints either 5' of the gene in the t(3;3)(q21;q26) or 3' of the gene in the inv(3)(q21q26). EVI1 is also expressed as part of a fusion transcript with the transcription factor AML1 in the t(3;21)(q26;q22), associated with myeloid leukemia. In cells with t(3;21), additional fusion transcripts are AML1-MDS1 and AML1-MDS1-EVI1. MDS1 is located at 3q26 170-400 kb upstream (telomeric) of EVI1 in the chromosomal region in which some of the breakpoints 5' of EVI1 have been mapped. MDS1 has been identified as a single gene as well as a previously unreported exon(s) of EVI1 We have analyzed the relationship between MDS1 and EVI1 to determine whether they are two separate genes. In this report, we present evidence indicating that MDS1 exists in normal tissues both as a unique transcript and as a normal fusion transcript with EVI1, with an additional 188 codons at the 5' end of the previously reported EVI1 open reading frame. This additional region has about 40% homology at the amino acid level with the PR domain of the retinoblastoma-interacting zinc-finger protein RIZ. These results are important in view of the fact that EVI1 and MDS1 are involved in leukemia associated with chromosomal translocation breakpoints in the region between these genes.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosomes, Human, Pair 21 / ultrastructure
  • Chromosomes, Human, Pair 3 / ultrastructure
  • Core Binding Factor Alpha 2 Subunit
  • DNA, Complementary / genetics
  • DNA-Binding Proteins / biosynthesis
  • DNA-Binding Proteins / genetics*
  • Exons / genetics
  • Gene Expression Regulation, Leukemic
  • Gene Library
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Kidney / metabolism
  • Leukemia, Myeloid / genetics*
  • MDS1 and EVI1 Complex Locus Protein
  • Molecular Sequence Data
  • Multigene Family*
  • Neoplasm Proteins / biosynthesis
  • Neoplasm Proteins / genetics*
  • Nuclear Proteins / chemistry
  • Oncogene Proteins, Fusion*
  • Open Reading Frames
  • Pancreas / metabolism
  • Protein Biosynthesis
  • Proteins / genetics*
  • Proto-Oncogene Proteins*
  • Proto-Oncogenes*
  • RNA Splicing
  • Recombinant Fusion Proteins / biosynthesis
  • Recombinant Fusion Proteins / genetics*
  • Sequence Alignment
  • Sequence Homology
  • Transcription Factors / biosynthesis
  • Transcription Factors / genetics*
  • Transcription, Genetic
  • Translocation, Genetic
  • Zinc Fingers / genetics


  • Core Binding Factor Alpha 2 Subunit
  • DNA, Complementary
  • DNA-Binding Proteins
  • MDS1 and EVI1 Complex Locus Protein
  • MDS1-EVI1 fusion protein, human
  • MECOM protein, human
  • Neoplasm Proteins
  • Nuclear Proteins
  • Oncogene Proteins, Fusion
  • Proteins
  • Proto-Oncogene Proteins
  • RUNX1 protein, human
  • Recombinant Fusion Proteins
  • Transcription Factors
  • Histone-Lysine N-Methyltransferase
  • PRDM2 protein, human

Associated data

  • GENBANK/U43292
  • GENBANK/U43293