Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome

Blood. 2010 Apr 8;115(14):2928-37. doi: 10.1182/blood-2009-06-227629. Epub 2010 Feb 12.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Macrocytic / genetics
  • Anemia, Macrocytic / metabolism
  • Anemia, Macrocytic / physiopathology
  • Animals
  • Chromosomes, Human, Pair 21 / genetics
  • Chromosomes, Human, Pair 21 / metabolism*
  • Disease Models, Animal
  • Down Syndrome / genetics
  • Down Syndrome / metabolism*
  • Down Syndrome / physiopathology
  • GATA1 Transcription Factor / genetics
  • GATA1 Transcription Factor / metabolism
  • Humans
  • Leukemia, Megakaryoblastic, Acute / genetics
  • Leukemia, Megakaryoblastic, Acute / metabolism
  • Leukemia, Megakaryoblastic, Acute / physiopathology
  • Mice
  • Myelopoiesis*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / metabolism
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / physiopathology

Substances

  • GATA1 Transcription Factor
  • GATA1 protein, human
  • Gata1 protein, mouse