T-cell lymphoproliferative diseases are often associated with recurrent chromosomal translocations involving T cell receptor genes (TCR) and genes that are thought to play a role in the pathogenesis of these diseases. Whereas numerous such genes have already been identified in acute T cell leukemias, no candidate gene has yet been identified to play a role in the heterogeneous group of T cell proliferations with a mature phenotype. We here report the molecular cloning of two examples of the rare but recurrent t(X;14) translocation. The first translocation was associated with a benign clonal proliferation in an ataxia telangiectasia patient and the second with a T cell prolymphocytic leukemia. Both translocations implicated the TCR alpha/delta locus and a common breakpoint region on chromosome Xq28. A previously unidentified gene, abnormally transcribed in both T cell proliferations, was characterized in the immediate proximity of the breakpoints. This Xq28 gene has no homology with known sequences, uses a complex alternative splicing pattern and demonstrates two short open reading frames. This gene, named MTCP-1 (Mature T Cell Proliferation-1) is the first candidate gene potentially involved in the leukemogenic process of mature T cell proliferations.
Pubmed ID: 8361760 RIS Download
Mesh terms: Alternative Splicing | Amino Acid Sequence | Ataxia Telangiectasia | Base Sequence | Chromosomes, Human, Pair 14 | Gene Expression | Genes | Humans | Leukemia, Prolymphocytic | Lymphoproliferative Disorders | Molecular Sequence Data | Proto-Oncogene Proteins | RNA, Messenger | Receptors, Antigen, T-Cell, alpha-beta | Restriction Mapping | T-Lymphocytes | Translocation, Genetic | X Chromosome
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