Document Detail


Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome.
MedLine Citation:
PMID:  20154221     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Trisomy of human chromosome 21 (Hsa21) results in Down syndrome (DS), a disorder that affects many aspects of physiology, including hematopoiesis. DS children have greatly increased rates of acute lymphoblastic leukemia and acute megakaryoblastic leukemia (AMKL); DS newborns present with transient myeloproliferative disorder (TMD), a preleukemic form of AMKL. TMD and DS-AMKL almost always carry an acquired mutation in GATA1 resulting in exclusive synthesis of a truncated protein (GATA1s), suggesting that both trisomy 21 and GATA1 mutations are required for leukemogenesis. To gain further understanding of how Hsa21 contributes to hematopoietic abnormalities, we examined the Tc1 mouse model of DS, which carries an almost complete freely segregating copy of Hsa21, and is the most complete model of DS available. We show that although Tc1 mice do not develop leukemia, they have macrocytic anemia and increased extramedullary hematopoiesis. Introduction of GATA1s into Tc1 mice resulted in a synergistic increase in megakaryopoiesis, but did not result in leukemia or a TMD-like phenotype, demonstrating that GATA1s and trisomy of approximately 80% of Hsa21 perturb megakaryopoiesis but are insufficient to induce leukemia.
Authors:
Kate A Alford; Amy Slender; Lesley Vanes; Zhe Li; Elizabeth M C Fisher; Dean Nizetic; Stuart H Orkin; Irene Roberts; Victor L J Tybulewicz
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-02-12
Journal Detail:
Title:  Blood     Volume:  115     ISSN:  1528-0020     ISO Abbreviation:  Blood     Publication Date:  2010 Apr 
Date Detail:
Created Date:  2010-04-09     Completed Date:  2010-04-27     Revised Date:  2011-07-28    
Medline Journal Info:
Nlm Unique ID:  7603509     Medline TA:  Blood     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2928-37     Citation Subset:  AIM; IM    
Affiliation:
Division of Immune Cell Biology, Medical Research Council National Institute for Medical Research, London, UK.
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MeSH Terms
Descriptor/Qualifier:
Anemia, Macrocytic / genetics,  metabolism,  physiopathology
Animals
Chromosomes, Human, Pair 21 / genetics,  metabolism*
Disease Models, Animal
Down Syndrome / genetics,  metabolism*,  physiopathology
GATA1 Transcription Factor / genetics,  metabolism
Humans
Leukemia, Megakaryoblastic, Acute / genetics,  metabolism,  physiopathology
Mice
Myelopoiesis*
Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics,  metabolism,  physiopathology
Grant Support
ID/Acronym/Agency:
R01 HL032259-29/HL/NHLBI NIH HHS; U117527252//Medical Research Council
Chemical
Reg. No./Substance:
0/GATA1 Transcription Factor; 0/GATA1 protein, human; 0/Gata1 protein, mouse
Comments/Corrections

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