Document Detail


New insights into 5q- syndrome as a ribosomopathy.
MedLine Citation:
PMID:  20980806     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Myelodysplastic Syndromes (MDS) are a heterogeneous group of acquired clonal bone marrow disorders, characterised by ineffective hematopoiesis. The mechanisms underlying many of these blood disorders have remained elusive due to the difficulty in pinpointing specific gene mutations or haplo-insufficencies, which can occur within large deleted regions. However, there is an increasing interest in the classification of some of these diseases as ribosomopathies. Indeed, studies have implicated Ribosomal Protein (RP) S14 as a strong candidate for haploinsufficiency in 5q- syndrome, a particular form of MDS. Recently, two novel mouse models have provided evidence for the involvement of both RPS14 and the p53 pathway, and specific miRNAs in 5q- syndrome. In this review we will discuss: 5q- syndrome mouse models, the possible mechanisms underlying this blood disorder with respect to the candidate genes and comparisons with other ribosomopathies and the involvement of the p53 pathway in these diseases.
Authors:
Jillian L Barlow; Lesley F Drynan; Nicola L Trim; Wendy N Erber; Alan J Warren; Andrew N J McKenzie
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review     Date:  2010-11-22
Journal Detail:
Title:  Cell cycle (Georgetown, Tex.)     Volume:  9     ISSN:  1551-4005     ISO Abbreviation:  Cell Cycle     Publication Date:  2010 Nov 
Date Detail:
Created Date:  2010-11-08     Completed Date:  2011-02-22     Revised Date:  2014-11-05    
Medline Journal Info:
Nlm Unique ID:  101137841     Medline TA:  Cell Cycle     Country:  United States    
Other Details:
Languages:  eng     Pagination:  4286-93     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Anemia, Macrocytic / genetics,  metabolism
Animals
Antigens, Differentiation, B-Lymphocyte / genetics,  physiology
Chromosome Deletion
Chromosomes, Human, Pair 5 / genetics,  metabolism
Disease Models, Animal
Histocompatibility Antigens Class II / genetics,  physiology
Humans
Membrane Proteins / genetics,  physiology
Mice
MicroRNAs / metabolism
Neoplasm Proteins / genetics,  physiology
RNA Interference
Ribosomal Proteins / genetics,  metabolism*
Tumor Suppressor Protein p53 / genetics,  metabolism
Grant Support
ID/Acronym/Agency:
MC_U105161083//Medical Research Council; MC_U105178805//Medical Research Council; MR/L003368/1//Medical Research Council; //Medical Research Council
Chemical
Reg. No./Substance:
0/2010002N04Rik protein, mouse; 0/Antigens, Differentiation, B-Lymphocyte; 0/Histocompatibility Antigens Class II; 0/Membrane Proteins; 0/MicroRNAs; 0/Neoplasm Proteins; 0/RPS14 protein, human; 0/Ribosomal Proteins; 0/Tumor Suppressor Protein p53; 0/invariant chain

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