| Advances in the 5q- syndrome. | |
| | |
MedLine Citation:
|
PMID: 20733155 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
|
The 5q- syndrome is the most distinct of all the myelodysplastic syndromes with a clear genotype/phenotype relationship. The significant progress made during recent years has been based on the determination of the commonly deleted region and the demonstration of haploinsufficiency for the ribosomal gene RPS14. The functional screening of all the genes in the commonly deleted region determined that RPS14 haploinsufficiency is the probable cause of the erythroid defect in the 5q- syndrome. A mouse model of the human 5q- syndrome has now been created by chromosomal engineering involving a large-scale deletion of the Cd74-Nid67 interval (containing RPS14). A variety of lines of evidence support the model of ribosomal deficiency causing p53 activation and defective erythropoiesis, including most notably the crossing of the "5q- mice" with p53-deficient mice, thereby ameliorating the erythroid progenitor defect. Emerging evidence supports the notion that the p53 activation observed in the mouse model may also apply to the human 5q- syndrome. Other mouse modeling data suggest that haploinsufficiency of the microRNA genes miR-145 and miR-146a may contribute to the thrombocytosis seen in the 5q- syndrome. Lenalidomide has become an established therapy for the 5q- syndrome, although its precise mode of action remains uncertain. |
| | |
Authors:
|
Jacqueline Boultwood; Andrea Pellagatti; Andrew N J McKenzie; James S Wainscoat |
Related Documents
:
|
11037645 - Does ser364pro mutation of connexin 43 exist in taiwanese patients with ivemark syndrome? 12008755 - Two novel mutations of thiazide-sensitive na-cl cotrans porter (tsc) gene in two sporad... 18985105 - Autism-lessons from the x chromosome. 19353645 - Further case of rubinstein-taybi syndrome due to a deletion in ep300. 18620795 - Therapeutic hypothermia after out-of-hospital cardiac arrest due to brugada syndrome. 21696385 - Smith-lemli-opitz syndrome among arabs. |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-08-23 |
Journal Detail:
|
Title: Blood Volume: 116 ISSN: 1528-0020 ISO Abbreviation: Blood Publication Date: 2010 Dec |
Date Detail:
|
Created Date: 2010-12-24 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 7603509 Medline TA: Blood Country: United States |
Other Details:
|
Languages: eng Pagination: 5803-11 Citation Subset: AIM; IM |
Affiliation:
|
Leukaemia & Lymphoma Research Molecular Haematology Unit, Nuffield Department of Clinical Laboratory Sciences, John Radcliffe Hospital, Headington, Oxford, United Kingdom. jacqueline.boultwood@ndcls.ox.ac.uk |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Pretransplantation functional imaging predicts outcome following autologous stem cell transplantatio...
Next Document: Persistent expression of the full genome of hepatitis C virus in B cells induces spontaneous develop...