MLL2, the second human homolog of the Drosophila trithorax gene, maps to 19q13.1 and is amplified in solid tumor cell lines

Oncogene. 1999 Dec 23;18(56):7975-84. doi: 10.1038/sj.onc.1203291.


The Mixed Lineage Leukemia (MLL) gene is commonly involved in translocations in infantile leukemia and is amplified in some cases of adult myeloid leukemia. A homolog of MLL denoted MLL2, which represents the second human homolog of the Drosophila trithorax gene, was characterized by assembling ESTs, the KIAA0304 cDNA clone, RT - PCR fragments and a new clone isolated from a cDNA phage library and compared to the available genomic sequence. The MLL2 gene maps to 19q13.1, a region of frequent rearrangement or amplification in solid tumors. MLL2 consists of an 8.5 - 9 kb transcript and spans 20 kb of genomic DNA. The predicted MLL2 protein possesses all of the major domains defined in MLL and the two genes have a similar genomic structure. We find that MLL2 is amplified in two of 14 pancreatic carcinoma cell lines and one of five glioblastoma cell lines and is a likely critical gene in 19q13.1 amplifications. It is also a candidate for chromosomal rearrangements involving this chromosome locus. MLL2 is one additional mammalian trithorax-group gene with involvement in human cancer.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Animals
  • Chromosome Mapping
  • Chromosomes, Human, Pair 19*
  • DNA-Binding Proteins / chemistry
  • DNA-Binding Proteins / genetics*
  • Drosophila / genetics
  • Drosophila Proteins*
  • Exons
  • Glioblastoma / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Introns
  • Molecular Sequence Data
  • Neoplasm Proteins / genetics
  • Pancreatic Neoplasms / genetics*
  • Polymerase Chain Reaction
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Alignment
  • Sequence Homology, Amino Acid
  • Transcription Factors*
  • Transcription, Genetic
  • Tumor Cells, Cultured


  • DNA-Binding Proteins
  • Drosophila Proteins
  • KMT2D protein, human
  • Neoplasm Proteins
  • Transcription Factors
  • Trl protein, Drosophila

Associated data

  • GENBANK/AJ007041