Altered hematopoiesis in trisomy 21 as revealed through in vitro differentiation of isogenic human pluripotent cells

Proceedings of the National Academy of Sciences of the United States of America

Volumn 109, Issue 43, 2012, Pages 17567-17572

  MacLean, Glenn A ^a,b   Menne, Tobias F ^a,b   Guo, Guoji ^a,b   Sanchez, Danielle J ^a,b   Park, In Hyun ^e   Daley, George Q ^a,b,c,d   Orkin, Stuart H ^a,b,c,d  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b DANA FARBER CANCER INSTITUTE   (United States)

^c HARVARD STEM CELL INSTITUTE   (United States)

^d HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^e YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPHORIN A; HEMOGLOBIN GAMMA CHAIN; LEUKOSIALIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL CLONE; CELL DIFFERENTIATION; CELL POPULATION; CHROMOSOME 21; CLONAL VARIATION; COLONY FORMING CELL; CONTROLLED STUDY; DISOMY; EMBRYO; EMBRYONIC STEM CELL; HEMATOPOIESIS; HEMATOPOIETIC CELL; HUMAN; HUMAN CELL; IN VITRO STUDY; LIVER DEVELOPMENT; MOUSE; NONHUMAN; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; PROTEIN EXPRESSION; TRISOMY 21;

CELL DIFFERENTIATION; DOWN SYNDROME; GENE EXPRESSION PROFILING; HEMATOPOIESIS; HUMANS; KARYOTYPING; PLURIPOTENT STEM CELLS; POLYMERASE CHAIN REACTION;

EID: 84867904859     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1215468109     Document Type: Article

References (34)

1. Bruwier A, Chantrain CF (2011) Hematological disorders and leukemia in children with Down syndrome. Eur J Pediatr 171:1301-1307.
2. Klusmann JH, et al. (2008) Treatment and prognostic impact of transient leukemia in neonates with Down syndrome. Blood 111:2991-2998.
3. Roy A, Roberts I, Norton A, Vyas P (2009) Acute megakaryoblastic leukaemia (AMKL) and transient myeloproliferative disorder (TMD) in Down syndrome: A multi-step model of myeloid leukaemogenesis. Br J Haematol 147:3-12.
4. Pine SR, et al. (2007) Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome. Blood 110:2128-2131. (Pubitemid 47443931)
5. Massey GV, et al.; Children's Oncology Group (COG) (2006) A prospective study of the natural history of transient leukemia (TL) in neonates with Down syndrome (DS): Children's Oncology Group (COG) study POG-9481. Blood 107:4606-4613. (Pubitemid 43882604)
6. Wechsler J, et al. (2002) Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nat Genet 32:148-152. (Pubitemid 34977210)
7. Rainis L, et al. (2003) Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21. Blood 102:981-986. (Pubitemid 36917793)
8. Tunstall-Pedoe O, et al. (2008) Abnormalities in the myeloid progenitor compartment in Down syndrome fetal liver precede acquisition of GATA1 mutations. Blood 112:4507-4511.
9. Chou ST, et al. (2008) Trisomy 21 enhances human fetal erythro-megakaryocytic development. Blood 112:4503-4506.
10. Alford KA, et al. (2010) Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome. Blood 115:2928-2937.
11. Kirsammer G, et al. (2008) Highly penetrant myeloproliferative disease in the Ts65Dn mouse model of Down syndrome. Blood 111:767-775.
12. Klusmann JH, et al. (2010) Developmental stage-specific interplay of GATA1 and IGF signaling in fetal megakaryopoiesis and leukemogenesis. Genes Dev 24:1659-1672.
13. Li Z, et al. (2005) Developmental stage-selective effect of somatically mutated leukemogenic transcription factor GATA1. Nat Genet 37:613-619. (Pubitemid 40770416)
14. Biancotti JC, et al. (2010) Human embryonic stem cells as models for aneuploid chromosomal syndromes. Stem Cells 28:1530-1540.
15. Park IH, et al. (2008) Disease-specific induced pluripotent stem cells. Cell 134:877-886.
16. Shi Y, Kirwan P, Smith J, MacLean G, Orkin SH, Livesey FJ (2012) A human stem cell model of early Alzheimer's disease pathology in Down syndrome. Sci Transl Med, 4:124ra29.
17. Mayshar Y, et al. (2010) Identification and classification of chromosomal aberrations in human induced pluripotent stem cells. Cell Stem Cell 7:521-531.
18. Kennedy M, D'Souza SL, Lynch-Kattman M, Schwantz S, Keller G (2007) Development of the hemangioblast defines the onset of hematopoiesis in human ES cell differentiation cultures. Blood 109:2679-2687. (Pubitemid 46482058)
19. Grigoriadis AE, et al. (2010) Directed differentiation of hematopoietic precursors and functional osteoclasts from human ES and iPS cells. Blood 115:2769-2776.
20. Dias J, et al. (2011) Generation of red blood cells from human induced pluripotent stem cells. Stem Cells Dev 20:1639-1647.
21. Chang CJ, et al. (2011) Production of embryonic and fetal-like red blood cells from human induced pluripotent stem cells. PLoS ONE 6:e25761.
22. Sankaran VG, et al. (2008) Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science 322:1839-1842.
23. Vodyanik MA, Thomson JA, Slukvin II (2006) Leukosialin (CD43) defines hematopoietic progenitors in human embryonic stem cell differentiation cultures. Blood 108:2095-2105. (Pubitemid 44395026)
24. Choi KD, et al. (2009) Hematopoietic and endothelial differentiation of human induced pluripotent stem cells. Stem Cells 27:559-567.
25. Khan I, Malinge S, Crispino J (2011) Myeloid leukemia in Down syndrome. Crit Rev Oncog 16:25-36.
26. Woods NB, et al. (2011) Brief report: Efficient generation of hematopoietic precursors and progenitors from human pluripotent stem cell lines. Stem Cells 29:1158-1164.
27. Soldner F, et al. (2011) Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations. Cell 146:318-331.
28. Hill KL, Kaufman DS (2008) Hematopoietic differentiation of human embryonic stem cells by cocultivation with stromal layers. Curr Protoc Stem Cell Biol, Chapter 1: Unit 1F.6.
29. Ma F, et al. (2008) Generation of functional erythrocytes from human embryonic stem cell-derived definitive hematopoiesis. Proc Natl Acad Sci USA 105:13087-13092.
30. Moreno-Gimeno I, Ledran MH, Lako M (2010) Hematopoietic differentiation from human ESCs as a model for developmental studies and future clinical translations. Invited review following the FEBS Anniversary Prize received on 5 July 2009 at the 34th FEBS Congress in Prague. FEBS J 277:5014-5025.
31. Chou, et al. (2012) Trisomy 21 associated defects in human primitive hematopoiesis revealed through induced pluripotent stem cells. Proc Natl Acad Sci USA 109:9101-9106.
32. Roy A, et al. (2012) Perturbation of fetal liver hematopoietic stem and progenitor cell development by trisomy 21. Proc Natl Acad Sci USA 109:17579-17584.
33. Sankaran VG, et al. (2009) Developmental and species-divergent globin switching are driven by BCL11A. Nature 460:1093-1097.
34. Guo G, et al. (2010) Resolution of cell fate decisions revealed by single-cell gene expression analysis from zygote to blastocyst. Dev Cell 18:675-685.