Fusion of the MLL gene with two different genes, AF-6 and AF-5alpha, by a complex translocation involving chromosomes 5, 6, 8 and 11 in infant leukemia

Oncogene. 1996 Nov 21;13(10):2121-30.


We analysed a complex translocation involving chromosomes 5, 6, 8 and 11 in a case of infant leukemia. Molecular analysis of the MLL gene revealed that MLL was fused with two different genes, AF-6 on chromosome 6q27 and AF-5alpha. AF-5alpha, the 11th partner gene fused with MLL, is a novel gene mapped to chromosome 5q12, which encodes a 31 kDa protein of 269 amino acids and contains a possible nuclear targeting sequence, a potential leucine zipper dimerization motif and an alpha-helical coiled-coil domain. In situ hybridization and molecular cloning analyses demonstrated that two different types of chromosomal recombination had occurred in the cells. One was a three-way translocation among chromosomes 6, 8 and 11, and the other was an insertion of a chromosome 5-derived segment into the breakpoint of chromosomes 8 and 11. Accordingly, the karyotype was defined as del(5)(q11.2q12), der(6)t(6;8) (q27;q11.2), der(8)(8pter-->8q11.2::5q11.2-->5q12::11q23-->++ +11qter), der(11)t(6;11) (q27;q23). Thus, the MLL gene created two different fusion mRNAs, since the chromosome 11 split into two different chromosomes 5 and 6. This is the first report demonstrating fusion of the MLL gene with two different genes by a complex translocation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Blotting, Northern
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11 / genetics*
  • Chromosomes, Human, Pair 5 / genetics*
  • Chromosomes, Human, Pair 6 / genetics*
  • Chromosomes, Human, Pair 8 / genetics*
  • Cloning, Molecular
  • DNA-Binding Proteins / genetics*
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Infant
  • Kinesin / genetics*
  • Leukemia, Monocytic, Acute / genetics*
  • Male
  • Molecular Sequence Data
  • Myeloid-Lymphoid Leukemia Protein
  • Myosins / genetics*
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / isolation & purification
  • Proto-Oncogenes*
  • Transcription Factors*
  • Translocation, Genetic / genetics*


  • AFDN protein, human
  • CENPK protein, human
  • DNA-Binding Proteins
  • KMT2A protein, human
  • Nuclear Proteins
  • Transcription Factors
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase
  • Myosins
  • Kinesin

Associated data

  • GENBANK/R50104