Une haplo-insuffisance de Fli1 à l’origine de la hrombopénie Paris-Trousseau

Hana Raslova; Rémi Favier; Olivier Albagli; William Vainchenker

doi:10.1051/medsci/20042011962

Accès gratuit

Numéro		Med Sci (Paris) Volume 20, Numéro 11, Novembre 2004


Page(s)		962 - 964
Section		Nouvelles
DOI		https://doi.org/10.1051/medsci/20042011962
Publié en ligne		15 novembre 2004

Favier R, Douay L, Esteva B, et al. A novel genetic thrombocytopenia (Paris-Trousseau) associated with platelet inclusions, dysmegakaryopoiesis and chromosome deletion at 11q23. CR Acad Sci Paris Ser III 1993; 316 : 698–701. [Google Scholar]
Breton-Gorius J, Favier R, Guichard J, et al. A new congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23. Blood 1995; 85 : 1805–14. [Google Scholar]
Hart A, Melet F, Grossfeld P, et al. Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia. Immunity 2000; 13 : 167–77. [Google Scholar]
Shivdasani RA. Molecular and transcriptional regulation of megakaryocyte differentiation. Stem Cells 2001; 19 : 397–407. [Google Scholar]
Spyropoulos DD, Pharr PN, Lavenburg KR, et al. Hemorrhage, impaired hematopoiesis, and lethality in mouse embryos carrying a targeted disruption of the Fli1 transcription factor. Mol Cell Biol 2000; 20 : 5643–52. [Google Scholar]
Bartel FO, Higuchi T, Spyropoulos DD. Mouse models in the study of the Ets family of transcription factors. Oncogene 2000; 19 : 6443–54. [Google Scholar]
Raslova H, Komura E, Le Couédic JP, et al. Fli1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. J Clin Invest 2004; 114 : 77–84. [Google Scholar]
Hanel ML, Wevrick R. The role of genomic imprinting in human developmental disorders : lessons from Prader-Willi syndrome. Clin Genet 2001; 59 : 156–64. [Google Scholar]
Schlissel M. Allelic exclusion of immunoglobulin gene rearrangement and expression : why and how ? Semin Immunol 2002; 14 : 207–12. [Google Scholar]
Bix M, Locksley RM. Independent and epigenetic regulation of the interleukin-4 alleles in CD4⁺ T cells. Science 1998; 281 : 1352–4. [Google Scholar]
Chess A, Simon I, Cedar H, Axel R. Allelic inactivation regulates olfactory receptor gene expression. Cell 1994; 78 : 823–34. [Google Scholar]
Penny LA, Dell’Aquila M, Jones MC, et al. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet 1995; 56 : 676–83. [Google Scholar]
Elowitz MB, Levine AJ, Siggia ED, Swain PS. Stochastic gene expression in a single cell. Science 2002; 297 : 1183–6. [Google Scholar]
Newlands S, Levitt LK, Robinson CS, et al. Transcription occurs in pulses in muscle fibers. Genes Dev 1998; 12 : 2748–58. [Google Scholar]
Cook DL, Gerber AN, Tapscott SJ. Modeling stochastic gene expression : implication for haploinsufficiency. Proc Natl Acad Sci USA 1998; 95 : 15641–64. [Google Scholar]

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[1] Favier R, Douay L, Esteva B, et al. A novel genetic thrombocytopenia (Paris-Trousseau) associated with platelet inclusions, dysmegakaryopoiesis and chromosome deletion at 11q23. CR Acad Sci Paris Ser III 1993; 316 : 698–701. [Google Scholar]

[2] Breton-Gorius J, Favier R, Guichard J, et al. A new congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23. Blood 1995; 85 : 1805–14. [Google Scholar]

[3] Hart A, Melet F, Grossfeld P, et al. Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia. Immunity 2000; 13 : 167–77. [Google Scholar]

[4] Shivdasani RA. Molecular and transcriptional regulation of megakaryocyte differentiation. Stem Cells 2001; 19 : 397–407. [Google Scholar]

[5] Spyropoulos DD, Pharr PN, Lavenburg KR, et al. Hemorrhage, impaired hematopoiesis, and lethality in mouse embryos carrying a targeted disruption of the Fli1 transcription factor. Mol Cell Biol 2000; 20 : 5643–52. [Google Scholar]

[6] Bartel FO, Higuchi T, Spyropoulos DD. Mouse models in the study of the Ets family of transcription factors. Oncogene 2000; 19 : 6443–54. [Google Scholar]

[7] Raslova H, Komura E, Le Couédic JP, et al. Fli1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. J Clin Invest 2004; 114 : 77–84. [Google Scholar]

[8] Hanel ML, Wevrick R. The role of genomic imprinting in human developmental disorders : lessons from Prader-Willi syndrome. Clin Genet 2001; 59 : 156–64. [Google Scholar]

[9] Schlissel M. Allelic exclusion of immunoglobulin gene rearrangement and expression : why and how ? Semin Immunol 2002; 14 : 207–12. [Google Scholar]

[10] Bix M, Locksley RM. Independent and epigenetic regulation of the interleukin-4 alleles in CD4⁺ T cells. Science 1998; 281 : 1352–4. [Google Scholar]

[11] Chess A, Simon I, Cedar H, Axel R. Allelic inactivation regulates olfactory receptor gene expression. Cell 1994; 78 : 823–34. [Google Scholar]

[12] Penny LA, Dell’Aquila M, Jones MC, et al. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet 1995; 56 : 676–83. [Google Scholar]

[13] Elowitz MB, Levine AJ, Siggia ED, Swain PS. Stochastic gene expression in a single cell. Science 2002; 297 : 1183–6. [Google Scholar]

[14] Newlands S, Levitt LK, Robinson CS, et al. Transcription occurs in pulses in muscle fibers. Genes Dev 1998; 12 : 2748–58. [Google Scholar]

[15] Cook DL, Gerber AN, Tapscott SJ. Modeling stochastic gene expression : implication for haploinsufficiency. Proc Natl Acad Sci USA 1998; 95 : 15641–64. [Google Scholar]