Showing papers by "Marc-Henri Stern published in 2000"
TL;DR: Deletion of the 12p13 region is a highly recurrent genetic event in T-cell prolymphocytic leukemia and is defined as a minimal region of deletion of less than one Mb flanked by the markers b312C2T7 and D12S320.
Abstract: Introduction: T-cell prolymphocytic leukemia is a rare form of mature leukemia which occurs in adults and in younger patients suAering ataxia telangiectasia. Among others, complex chromosome aberrations of chromosome 12 have been described in this disease. We searched for deletions of the 12p13 region as the result of these chromosome rearrangements. Material and methods: Paired leukemic and non-leukemic cells were obtained from a series of 21 patients suAering T-cell prolymphocytic leukemia. Loss of heterozygosity was searched for by microsatellite typing using a fluorescent automated laser DNA sequencer to analyze the amplification products. Proteins were analyzed by Western blot. Southern blot analysis of one patient was conducted. Results and conclusion: Loss of heterozygosity of the 12p13 region, including the ETV6 and CDKN1B genes, was detected in nine of these 21 cases (43%). Western and Southern blot analyses of one case demonstrated a biallelic deletion which did not include ETV6. Taken together, our results defined a minimal region of deletion of less than one Mb flanked by the markers b312C2T7 and D12S320, excluding ETV6 as a candidate gene. Deletion of the 12p13 region is thus a highly recurrent genetic event in T-cell prolymphocytic leukemia. The Hematology Journal (2000) 1, 42‐47
24 citations
TL;DR: The refined structure of p13MTCP1 benefits from 520 additional NOEs, extracted from either 15N-edited 3D experiments or homonuclear 2D NOESY recorded at 800 MHz, and from a nearly complete set of φ angular restraints.
Abstract: Two related oncogenes, TCL1 and MTCP1, are overexpressed in certain T-cell prolymphocytic leukemias as a result of chromosomal rearrangements that involve the translocation of one T-cell receptor gene to either chromosome 14q32 or Xq28, respectively. The human oncoprotein p13
MTCP1
is coded by the MTCP1 gene and its primary sequence is highly and only homologous to that of p14
TCL1
, the product of TCL1. These two proteins likely represent the first members of a new family of oncogenic proteins. A previous model of the three-dimensional solution structure of p13
MTCP1
was determined recently using exclusively homonuclear proton two-dimensional NMR methods and, almost simultaneously, high-resolution crystal structures of p13
MTCP1
and p14
TCL1
appeared in the literature. In order to gain more insight into the details of the solution structure, we uniformly labeled p13
MTCP1
with nitrogen-15. The refined structure benefits from 520 additional NOEs, extracted from either 15N-edited 3D experiments or homonuclear 2D NOESY recorded at 800 MHz, and from a nearly complete set of φ angular restraints. Measurements of 15N spin relaxation times and heteronuclear 15N{1H}NOEs at two magnetic field strengths provided additional insights into the dynamics of the protein backbone. On the basis of these new results, a putative binding surface for this particular class of oncogenes is discussed.
24 citations
TL;DR: In their review, Vanasse et al state that up to half of the individuals without ataxia telangiectasia who contract T-cell prolymphocytic leukemia (T-PLL) were heterozygote carriers of mutations with the ATM gene.
21 citations
TL;DR: Molecular analysis of the mature T cell proliferation-1 ( MTCP-1) gene in Xq28-linked incontinentia pigmenti shows activity in both the T cell itself and the “cell reprograming” pathways.
Abstract: Molecular analysis of the mature T cell proliferation-1 ( MTCP-1 ) gene in Xq28-linked incontinentia pigmenti