RGD Reference Report - Changes in the expression of telomere maintenance genes suggest global telomere dysfunction in B-chronic lymphocytic leukemia. - Rat Genome Database

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Changes in the expression of telomere maintenance genes suggest global telomere dysfunction in B-chronic lymphocytic leukemia.

Authors: Poncet, D  Belleville, A  T'kint de Roodenbeke, C  Roborel de Climens, A  Ben Simon, E  Merle-Beral, H  Callet-Bauchu, E  Salles, G  Sabatier, L  Delic, J  Gilson, E 
Citation: Poncet D, etal., Blood. 2008 Feb 15;111(4):2388-91. Epub 2007 Dec 12.
RGD ID: 11251735
Pubmed: PMID:18077792   (View Abstract at PubMed)
DOI: DOI:10.1182/blood-2007-09-111245   (Journal Full-text)

In this study, we explored the telomeric changes that occur in B-chronic lymphocytic leukemia (B-CLL), in which telomere length has recently been demonstrated to be a powerful prognostic marker. We carried out a transcriptomic analysis of telomerase components (hTERT and DYSKERIN), shelterin proteins (TRF1, TRF2, hRAP1, TIN2, POT1, and TPP1), and a set of multifunctional proteins involved in telomere maintenance (hEST1A, MRE11, RAD50, Ku80, and RPA1) in peripheral B cells from 42 B-CLL patients and 20 healthy donors. We found that, in B-CLL cells, the expressions of hTERT, DYSKERIN, TRF1, hRAP1, POT1, hEST1A, MRE11, RAD50, and KU80 were more than 2-fold reduced (P < .001), contrasting with the higher expression of TPP1 and RPA1 (P < .001). This differential expression pattern suggests that both telomerase down-regulation and changes in telomeric proteins composition are involved in the pathogenesis of B-CLL.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
B-Cell Chronic Lymphocytic Leukemia  IEP 11251735 RGD 
B-Cell Chronic Lymphocytic Leukemia  ISODKC1 (Homo sapiens)11251735; 11251735 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Dkc1  (dyskerin pseudouridine synthase 1)

Genes (Mus musculus)
Dkc1  (dyskeratosis congenita 1, dyskerin)

Genes (Homo sapiens)
DKC1  (dyskerin pseudouridine synthase 1)


Additional Information