| Trisomy of Erg is required for myeloproliferation in a mouse model of Down syndrome. | |
| | |
MedLine Citation:
|
PMID: 20007548 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Down syndrome is characterized by multiple phenotypic manifestations associated with trisomy of chromosome 21. The transient myeloproliferative disorder and acute megakaryocytic leukemia associated with Down syndrome are uniquely associated with mutations in the transcription factor GATA1; however, the identity of trisomic genes on chromosome 21 that predispose to these hematologic disorders remains unknown. Using a loss-of-function allele, we show that specific reduction to functional disomy of the Erg gene corrects the pathologic and hematologic features of myeloproliferation in the Ts(17(16))65Dn mouse model of Down syndrome, including megakaryocytosis and progenitor cell expansion. Our data provide genetic evidence establishing the need for Erg trisomy for myeloproliferation in Ts(17(16))65Dn mice and imply that increased ERG gene dosage may be a key consequence of trisomy 21 that can predispose to malignant hematologic disorders in Down syndrome. |
| | |
Authors:
|
Ashley P Ng; Craig D Hyland; Donald Metcalf; Catherine L Carmichael; Stephen J Loughran; Ladina Di Rago; Benjamin T Kile; Warren S Alexander |
Related Documents
:
|
8115398 - Segmental trisomy as a mouse model for down syndrome. 3688018 - Unique mosaicism in prader-labhart-willi syndrome--a contiguous gene or aneuploidy synd... 15098238 - Duplication of the distal long arm of chromosome 15: report of three new patients and r... 1990258 - Myelofibrosis in a child suffering from a hypereosinophilic syndrome with trisomy 8: re... 156708 - Tyrosinemia without liver or renal damage with plantar and palmar keratosis and keratit... 9048678 - Occurrence of epilepsies in family members of indian probands with different epileptic ... |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2009-12-09 |
Journal Detail:
|
Title: Blood Volume: 115 ISSN: 1528-0020 ISO Abbreviation: Blood Publication Date: 2010 May |
Date Detail:
|
Created Date: 2010-05-14 Completed Date: 2010-06-01 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 7603509 Medline TA: Blood Country: United States |
Other Details:
|
Languages: eng Pagination: 3966-9 Citation Subset: AIM; IM |
Affiliation:
|
Cancer and Haematology Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Animals Disease Models, Animal* Down Syndrome / genetics*, pathology Female Flow Cytometry Male Mice Mice, Inbred C3H Mice, Inbred C57BL Mice, Knockout Mutation, Missense / genetics Myeloproliferative Disorders / genetics*, pathology Oncogene Proteins / genetics* Trisomy / genetics*, pathology |
| Chemical | |
Reg. No./Substance:
|
0/ERG protein, mouse; 0/Oncogene Proteins |
| Comments/Corrections | |
Comment In:
|
Blood. 2010 May 13;115(19):3859-60
[PMID:
20466869
]
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: EF-hand domains of MCFD2 mediate interactions with both LMAN1 and coagulation factor V or VIII.
Next Document: Clinical features of the initial cases of 2009 pandemic influenza A (H1N1) virus infection in China.