Identification of a novel fusion gene, TTL, fused to ETV6 in acute lymphoblastic leukemia with t(12;13)(p13;q14), and its implication in leukemogenesis

Leukemia. 2003 Jun;17(6):1112-20. doi: 10.1038/sj.leu.2402919.

Abstract

ETS variant gene 6 (ETV6)/translocation, ETS, leukemia (TEL)-involving chromosomal translocations are frequently observed in various hematologic neoplasms. We describe here a novel ETV6-involving translocation, t(12;13)(p13;q14), found in the case of acute lymphoblastic leukemia, in which ETV6 fused with a previously unknown gene, named Twelve-thirteen Translocation Leukemia gene (TTL), at 13q14. TTL was weakly but ubiquitously expressed in normal human tissues as detected by reverse transcribed-PCR. Three TTL splicing forms were identified, TTL-T from a human testis cDNA library, with an open-reading frame of 402 bp encoding 133 amino acids (aa), and TTL-B1 and -B2 from a human brain cDNA library. These proteins have no homology to known proteins. In leukemic cells from the patient, both reciprocal fusion transcripts, ETV6/TTL and TTL/ETV6, were expressed. The predominant fusion transcript, TTL/ETV6-1, encodes a predicted 530 aa fusion protein containing 89 aa of the N-terminal TTL fusing to the helix-loop-helix domain and ETS-binding domain of ETV6. Although the function of TTL is yet to be elucidated, our findings will provide another insight into the molecular pathogenesis of leukemia having ETV6-involving translocations.

Publication types

  • Case Reports

MeSH terms

  • Alternative Splicing
  • Amino Acid Sequence
  • Base Sequence
  • Blotting, Southern
  • Brain
  • Chromosomes, Human, Pair 12*
  • Chromosomes, Human, Pair 13*
  • Cloning, Molecular
  • DNA Primers / chemistry
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • ETS Translocation Variant 6 Protein
  • Gene Library
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Oncogene Proteins, Fusion / genetics*
  • Oncogene Proteins, Fusion / metabolism
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Protein Isoforms
  • Proto-Oncogene Proteins c-ets
  • RNA, Neoplasm / blood
  • RNA, Neoplasm / genetics
  • RNA, Neoplasm / isolation & purification
  • Repressor Proteins / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Testis
  • Translocation, Genetic*

Substances

  • DNA Primers
  • DNA-Binding Proteins
  • Oncogene Proteins, Fusion
  • Protein Isoforms
  • Proto-Oncogene Proteins c-ets
  • RNA, Neoplasm
  • Repressor Proteins
  • TTL-ETV6 fusion protein, human