title: Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11.
abstract: In myeloid and lymphoid leukemias recurrent chromosomal aberrations can be detected in chromosome region 12p13. We characterized the genes involved in t(12;22) (p13;q11) in two patients with myeloid leukemia and one with myelodysplastic syndrome (MDS). MN1, a gene on chromosome 22q11 was shown to be fused to TEL, a member of the family of ETS transcription factors on chromosome 12p13. The translocation results in transcription of the reciprocal fusion mRNAs, MN1-TEL and TEL-MN1, of which MN1-TEL is likely to encode an aberrant transcription factor containing the ETS DNA-binding domain of TEL. In addition to fusion of TEL to the PDGF beta receptor in t(5;12) in chronic myelomonocytic leukemia (CMML), our data suggest that the involvement of this protein in myeloid leukemogenesis could be dual; its isolated protein-protein dimerization and DNA-binding domains may be crucial for the oncogenic activation of functionally different fusion proteins.
authors.affiliation: Department of Genetics, St Jude Children's Research Hospital, Memphis, Tennessee 38101-0318, USA.
authors.forename: A
authors.initials: A
authors.lastname: Buijs
authors.forename: S
authors.initials: S
authors.lastname: Sherr
authors.forename: S
authors.initials: S
authors.lastname: van Baal
authors.forename: S
authors.initials: S
authors.lastname: van Bezouw
authors.forename: D
authors.initials: D
authors.lastname: van der Plas
authors.forename: A
authors.initials: A
authors.lastname: Geurts van Kessel
authors.forename: P
authors.initials: P
authors.lastname: Riegman
authors.forename: R
authors.initials: R
authors.lastname: Lekanne Deprez
authors.forename: E
authors.initials: E
authors.lastname: Zwarthoff
authors.forename: A
authors.initials: A
authors.lastname: Hagemeijer
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D002892:Chromosomes, Human, Pair 22; D003001:Cloning, Molecular; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D009196:Myeloproliferative Disorders / Q000235:genetics*; D016133:Polymerase Chain Reaction; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D004268:DNA-Binding Proteins; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D014157:Transcription Factors; D000097764:ETS Translocation Variant 6 Protein