title: MTCP-1: a novel gene on the human chromosome Xq28 translocated to the T cell receptor alpha/delta locus in mature T cell proliferations.
abstract: 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.
authors.affiliation: Laboratoire d'Hématologie Moléculaire, Hôpital Saint-Louis, Paris, France.
authors.forename: M H
authors.initials: MH
authors.lastname: Stern
authors.forename: J
authors.initials: J
authors.lastname: Soulier
authors.forename: M
authors.initials: M
authors.lastname: Rosenzwajg
authors.forename: K
authors.initials: K
authors.lastname: Nakahara
authors.forename: N
authors.initials: N
authors.lastname: Canki-Klain
authors.forename: A
authors.initials: A
authors.lastname: Aurias
authors.forename: F
authors.initials: F
authors.lastname: Sigaux
authors.forename: I R
authors.initials: IR
authors.lastname: Kirsch
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001260:Ataxia Telangiectasia / Q000235:genetics; D001483:Base Sequence; D002883:Chromosomes, Human, Pair 14; D015870:Gene Expression; D005796:Genes; D006801:Humans; D015463:Leukemia, Prolymphocytic / Q000235:genetics; D008232:Lymphoproliferative Disorders / Q000235:genetics*; D008969:Molecular Sequence Data; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D016693:Receptors, Antigen, T-Cell, alpha-beta / Q000235:genetics*; D015183:Restriction Mapping; D013601:T-Lymphocytes / Q000166:cytology; D014178:Translocation, Genetic; D014960:X Chromosome
chemical_list: C082870:MTCP1 protein, human; D011518:Proto-Oncogene Proteins; D012333:RNA, Messenger; D016693:Receptors, Antigen, T-Cell, alpha-beta