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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Alleles
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Alu Elements / genetics
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Base Sequence
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Burkitt Lymphoma / genetics*
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Child
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Chromosome Breakage / genetics*
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Chromosomes, Human, Pair 12 / genetics*
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Chromosomes, Human, Pair 21 / genetics
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Chromosomes, Human, Pair 9 / genetics
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DNA Mutational Analysis
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DNA Nucleotidyltransferases / metabolism
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DNA Repair / genetics
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DNA-Binding Proteins / genetics*
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ETS Translocation Variant 6 Protein
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Exons / genetics
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Humans
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Introns / genetics
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Leukemia-Lymphoma, Adult T-Cell / genetics*
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Leukemia-Lymphoma, Adult T-Cell / pathology
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Physical Chromosome Mapping
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Proto-Oncogene Proteins c-ets
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Recurrence
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Repressor Proteins*
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Transcription Factors / genetics*
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Translocation, Genetic / genetics*
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VDJ Recombinases
Substances
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DNA-Binding Proteins
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Proto-Oncogene Proteins c-ets
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Repressor Proteins
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Transcription Factors
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DNA Nucleotidyltransferases
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VDJ Recombinases