Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 1 de 1
Filter
Add more filters










Database
Language
Publication year range
1.
Eur J Cancer ; 43(8): 1328-35, 2007 May.
Article in English | MEDLINE | ID: mdl-17449237

ABSTRACT

Deletion of 11q22-q23 is associated with an aggressive course of B-cell chronic lymphocytic leukaemia (B-CLL). Since only in a subset of these cases biallelic inactivation of ATM was observed, we sought to identify other disease-associated genes within 11q22-q23 by analysing NPAT (cell-cycle regulation), CUL5 (ubiquitin-dependent apoptosis regulation) and PPP2R1B (component of the cell-cycle and apoptosis regulating PP2A) for point mutations and their expression in B-CLL by single-strand conformation polymorphism/sequence analysis of the transcripts and real-time polymerase chain reaction. Though none of the genes were affected by deleterious mutations, we observed a significant down-regulation of NPAT in B-CLL versus CD19+ B cells and of CUL5 in 11q deletion versus non-deletion B-CLL samples and measured reduced PPP2R1B transcript levels in a subset of B-CLL cases. Alternative splicing of PPP2R1B transcripts (skipping of exons 2/3, 3, 9) was associated with a reduced activity of protein phosphatase 2A. Together, these results implicate deregulation of the cell-cycle and apoptosis regulators NPAT, CUL5 and PPP2R1B and a role for these genes in the pathogenesis of B-CLL.


Subject(s)
Cell Cycle Proteins/genetics , Chromosome Deletion , Chromosomes, Human, Pair 11/genetics , Cullin Proteins/genetics , Leukemia, Lymphocytic, Chronic, B-Cell/genetics , Neoplasm Proteins/genetics , Nuclear Proteins/genetics , Base Sequence/genetics , DNA Mutational Analysis , Down-Regulation , Humans , Mutation/genetics , Polymerase Chain Reaction/methods , Protein Phosphatase 2 , Reverse Transcriptase Polymerase Chain Reaction/methods
SELECTION OF CITATIONS
SEARCH DETAIL
...