title: Molecular analysis of chromosomal breakpoints in three examples of chromosomal translocation involving the TEL gene.
abstract: The TEL gene is involved in several chromosomal abnormalities of human hematopoietic malignancies. The chromosome 12 breakpoints frequently lie within the fifth intron of the gene, particularly in the most frequent translocation involving TEL, the t(12;21)(p13;q22). In order to search for a peculiar mechanism involved in the genesis of these translocations, we have established the sequence of two t(12;21) and a t(9;12)(q24;p13) breakpoints. Our data do not reveal the involvement of VDJ recombinase activity or Alu sequences but favor the occurrence of staggered breaks and DNA repair activity in the genesis of these translocations.
authors.affiliation: U434 de l'Institut National de la Santé et de la Recherche Médicale (INSERM) and SD 401 No 434 CNRS, CEPH, 27 rue Juliette Dodu, 75010 Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Romana
authors.forename: H
authors.initials: H
authors.lastname: Poirel
authors.forename: V
authors.initials: V
authors.lastname: Della Valle
authors.forename: M
authors.initials: M
authors.lastname: Mauchauffé
authors.forename: M
authors.initials: M
authors.lastname: Busson-Le Coniat
authors.forename: R
authors.initials: R
authors.lastname: Berger
authors.forename: O A
authors.initials: OA
authors.lastname: Bernard
mesh_terms: D000483:Alleles; D020087:Alu Elements / Q000235:genetics; D001483:Base Sequence; D002051:Burkitt Lymphoma / Q000235:genetics*; D002648:Child; D019457:Chromosome Breakage / Q000235:genetics*; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D004252:DNA Mutational Analysis; D004254:DNA Nucleotidyltransferases / Q000378:metabolism; D004260:DNA Repair / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D015459:Leukemia-Lymphoma, Adult T-Cell / Q000235:genetics* / Q000473:pathology; D020161:Physical Chromosome Mapping; D050783:Proto-Oncogene Proteins c-ets; D012008:Recurrence; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*; D045567:VDJ Recombinases; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D004254:DNA Nucleotidyltransferases; D004268:DNA-Binding Proteins; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D014157:Transcription Factors; D045567:VDJ Recombinases; D000097764:ETS Translocation Variant 6 Protein