Murine embryonic stem cells without pig-a gene activity are competent for hematopoiesis with the PNH phenotype but not for clonal expansion

Journal of Clinical Investigation

Volumn 100, Issue 5, 1997, Pages 1028-1036

  Rosti, Vittorio ^a   Tremml, Gabi ^a   Soares, Vera ^a   Pandolfi, Pier Paolo ^a   Luzzatto, Lucio ^a   Bessler, Monica ^a,b  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Embryoid bodies; ES cells; GPI; Hemoglobinuria; Knockout

Indexed keywords

ANIMAL CELL; ANIMAL MODEL; ARTICLE; CHIMERA; EMBRYO; EMBRYO CELL; FEMALE; GENE ACTIVITY; GENE DISRUPTION; GRANULOPOIESIS; HEMATOPOIESIS; LYMPHOPOIESIS; MALE; MOUSE; NONHUMAN; PAROXYSMAL NOCTURNAL HEMOGLOBINURIA; PHENOTYPE; PRIORITY JOURNAL; STEM CELL;

EID: 0030955185     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI119613     Document Type: Article

References (42)

1. Dacie, J.V., and S.M. Lewis. 1972. Paroxysmal nocturnal haemoglobinuria: clinical manifestations, haematology and nature of disease. Ser. Haematol. 3:3-23.
2. Takeda, J., T. Miyata, K. Kawagoe, Y. Iida, Y. Endo, T. Fujita, M. Takahahi, T. Kitani, and T. Kinoshita. 1993. Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell. 73:703-711.
3. Bessler, M., P.J. Mason. P. Hillmen.T. Miyata, N. Yamada. J. Takeda. L. Luzzatto. and T. Kinoshita. 1994. Paroxysmal nocturnal haemoglobinuria (PNH) is caused bv somatic mutations in the PIG-A gene. EMBO (Eur. Mol. Biol. Organ.) J. 13:110-117.
4. Rosse, W.F. 1990. Phosphatidylinositol-linked proteins and paroxysmal nocturnal hemoglobinuria. Blood. 75:1595-1601.
5. Kinoshita, T., N. Inoue, and J. Takeda. 1995. Defective glycosyl phosphatidylinositol (GPI)-anchor synthesis and paroxysmal nocturnal hemoglobinuria. Adv. Immunol. 60:57-103.
6. Masterson, W., T. Doering, G. Hart, and P.T. Englund. 1989. A novel pathway for the glycan assembly: biosynthesis of the glycosyl-phosphatidylinositol anchor of the trypanosome variant surface glycoprotein. Cell. 56:793-800.
7. Bessler, M., P. Hillmen, L. Longo, L. Luzzatto, and P.J. Mason. 1994. Genomic organisation of the X-linked gene (PIG-A) that is mutated in paroxysmal nocturnal haemoglobinuria and of a related pseudogene mapped to 12q21. Hum. Mol. Genet. 3:751-757.
8. Watanabe, R., T. Kinoshita, R. Masaki, A. Yamamoto, J. Takeda, and N. Inoue. 1996. PIG-A and PIG-H, which participate in glycosylphosphatidylinositol anchor biosynthesis, form a protein complex in the cndoplasmic reticulum. J. Biol. Chem. 271(43):26868-26875.
9. Luzzatto, L., and M. Bessler. 1996. The dual pathogenesis of paroxysmal nocturnal hemoglobinuria. Curr. Op. Hematol. 3:101-110.
10. Rosse, W., and R.E. Ware. 1995. The molecular basis of paroxysmal nocturnal hemoglobinuria. Blood. 86:3277-3286.
11. Rosse, W.F., and J.V. Dacie. 1966. Immune lysis of normal human and paroxysmal nocturnal haemoglobinuria (PNH) red blood cells. I. The sensitivity of PNH red cells to lysis by complement and specific antibody. J. Clin. Invest. 45:736-748.
12. van Kamp, H., J.E. Landegent, R.P.M. Jansen, R. Willemze, and W.E. Fibbe. 1991. Clonal haematopoiesis in patient with acquired aplastic anaemia. Blood. 78:3209-3214.
13. Dameshek, W. 1967. Riddle: what do aplastic anaemia, paroxysmal nocturnal haemoglobinuria (PNH) and hypoplastic anaemia have in common? Blood. 30:251-254.
14. Lewis, S.M., and J.V. Dacie. 1967. The aplastic anaemia-paroxysmal nocturnal haemoglobinuria syndrome. Br. J. Haematol. 13:236-251.
15. Rotoli, B., and L. Luzzatto. 1989. Paroxysmal nocturnal haemoglobinuria. Baillière's Clin. Haematol. 2:113-138.
16. Luzzatto, L., M. Bessler, and B. Rotoli. 1997. Somatic mutation in Paroxysmal Nocturnal Hemoglobinuria: a blessing in disguise? Cell. 88:1-4.
17. Bessler, M., P.J. Mason, P. Hillmen, and L. Luzzatto. 1994. Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria. Lancet. 343:951-953.
18. Swiatek, P.J., and T. Gridley. 1993. Peinathal lethality and defects in hindbrain development in mice homozygous for a targeted mutation of the zinc finger gene Krox20. Genes Dev. 7:2071-2084.
19. Robertson, E.J. 1987. Embryo-derived stem cell lines. In Teratocarcinomas and embryonic stem cells: A practical approach. E.J. Robertson, editor. IRL Press, Oxford, UK. 71-112.
20. Sambrook, J., E.F. Fritsch, and T. Maniatis. 1989. Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory Press.
21. Kawagoe, K., J. Takeda, Y. Endo, and T. Kinoshita. 1994. Molecular cloning of murine Pig-a, a gene for GPI-anchor biosynthesis, and demonstration of interspecies conservation of its structure, function, and genetic locus. Genomics. 23:566-574.
22. Laird, P., A. Zijderveld, K. Linders, M. Rudnicki, R. Jaenisch, and A. Berns. 1991. Simplified mammalian DNA isolation procedure. Nucleic Acids Res. 19:4293.
23. Longo, L., A. Bygrave, F.G. Grosveld, and P.P. Pandolfi. 1997. The chromosome make-up of mouse embryonic stem cells is predictive of somatic and germ line chimerism. Transgenic Res. 6:1-8.
24. Pevny, L., C.-S. Lin, V. D'Agati, M.C. Simon, S.H. Orkin, and F. Constantini. 1995. Development of hematopoietic cells lacking transcription factor GATA-1. Development (Cambridge). 121:163-172.
25. Wiles, M.V., and G. Keller. 1991. Multiple hematopoietic lineages develop from embryonic stem (ES) cells in culture. Development (Cambridge). 111:259-267.
26. Heyworth, C., and E. Spooncer. 1993. In vitro clonal assays for murine multipotential and lineage restricted myeloid progenitor cells. In Haemopoiesis: A Practical Approach. N. Testa, and G. Molineux, editors. Oxford University Press, Inc., New York. 37-53.
27. Stowe, H., J. Wagner, and J. Pick. 1971. A debilitating fatal murine dermatitis. Lab Anim. Sci. 21:892-897.
28. HogenHesch, H., M.J.J. Gijbels, E. Offerman, J.v. Hooft, D.W.v. Bekkum, and C. Zurcher. 1993. A spontaneous mutation characterized by chronic proliferative dermatitisin C57BL mice. Am. J. Pathol. 143:972-982.
29. Wiles, M.V. 1993. Embryonic stem cell differentiation in vitro. In Guide to Techniques in Mouse Development. Volume 225. P.M. Wassarman and M.L. DePamphilis, editors. Academic Press, Inc. 901-918.
30. Kawagoe, K., D. Kitamura, M. Okabe, I. Taniuchi, M. Ikawa, T. Watanabe, T. Kinoshita, and J. Takeda. 1996. Glycosylphosphatidylinositol-anchor-deficient mice: implications for clonal dominance of mutant cells in paroxysmal nocturnal hemoglobinuria. Blood. 87:3600-3606.
31. Russell, E.S., and S.E. Bernstein. 1966. Blood and blood formation. In Biology of the Laboratory Mouse. E.L. Green, editor. McGraw-Hill Inc., New York. 351-372.
32. Ham, T.H. 1937. Chronic haemolytic anaemia with paroxysmal nocturnal haemoglobinuria: study of the mechanism of haemolysis in relation to acid-base equilibrium. N. Engl. J. Med. 218:915-918.
33. Medvinsky, A., and E. Dzierzak. 1996. Definitive hematopoiesis is autonomously initiated by the AGM region. Cell. 86:897-906.
34. Moore, M.A.S., and D. Metcalf. 1970. Ontogeny of the hematopoietic system: yolk sack origin of in vivo and in vitro colony forming cells in the developing mouse embryo. Br. J. Haematol. 18:279-296.
35. Gordon, M., J. Lewis, S. Marley, F. Grand, and J. Goldman. 1997. Stromal cells negatively regulate primitive hemopoietic progenitor cell activation via a phosphatidylinositol-anchored cell adhesion/signalling mechanism. Br. J. Haematol. 96:647-653.
36. Hillmen, P., M.S. Lewis, M. Bessler, L. Luzzatto, and J.V. Dacie. 1995. Natural history of paroxysmal nocturnal hemoglobinuria. N. Engl. J. Med. 333: 1253-1258.
37. Doetschman, T., H. Eistetter, M. Katz, W. Schmidt, and R. Kemler. 1985. The in vitro development of blastocyst-derived embryonic stem cell lines: formation of visceral yolk sac blood island and myocardium. J. Embryol. Exp. Morph. 87:27-45.
38. Gordon, M.Y., G.P. Riley, S.M. Watt, and M.F. Greaves. 1987. Compartmentalization of a haematopoitic growth factor (GM-CSF) by glycosaminoglycans in the bone marrow microenvironment. Nature (Lond). 326:403-405.
39. Roberts, R., J. Gallagher, E. Spooncer, T. Allen, F. Bloomfield, and T. Dexter. 1988. Heparan sulphate bound growth factors: a mechanism for stromal cell mediated haemopoiesis. Nature (Lond.). 332:376-378.
40. Brunner, G., G. Janice, D.B. Rifkin, and E.L. Wilson. 1991. Phospholipase C release of basic fibroblast growth factor from human bone marrow cultures as a biologically active complex with a phosphatidylinositol-anchored heparan sulphate proteoglycan. J. Cell Biol. 114:1275-1283.
41. Dunn, D.E., J. Yu, S. Nagarajan, M. Devetten, F.F. Weichold, M.E. Medof, N.S. Young, and J.M. Liu. 1996. A knock out model of paroxysmal nocturnal hemoglobinuria: Pig-a-hematopoiesis is reconstituted following intercellular transfer of GPI-anchored proteins. Proc: Natl. Acad. Sci. USA. 93:7938-7943.
42. Bielinska, M., N. Narita, M. Heikinheimo, S.B. Porter, and D.B. Wilson. 1996. Erythropoiesis and vasculogenesis in embryoid bodies lacking visceral yolk sac endoderm. Blood. 88:3720-3730.