Les exostosines : des protéines impliquées dans la biosynthèse des héparanes sulfates

Laurence Legeai-Mallet; Jacky Bonaventure

doi:doi:10.1051/medsci/200218123

Accès gratuit

Numéro		Med Sci (Paris) Volume 18, Numéro 1, Janvier 2002


Page(s)		23 - 25
Section		Le Magazine : Nouvelles
DOI		https://doi.org/10.1051/medsci/200218123
Publié en ligne		15 janvier 2002

Ahn J, Ludecke HJ, Lindow S, et al. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nat Genet 1995; 11 : 137–43.
Stickens D, Clines G, Burbee D, et al. The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nat Genet 1996; 14 : 25–32.
McCormick G, Leduc Y, Martindale D, et al. The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. Nat Genet 1998; 19 : 158–61.
Kitagawa H, Shimakawa H, Sugahara K. The tumor suppressor EXT-like gene EXTL2 encodes an alpha1,4-N-acetylhexosaminyltransferase that transfers N-acetylga-actosamine and N-acetyl-glucosamine to the common glycosaminoglycan-protein linkage region. The key enzyme for the chain initiation of heparan sulfate. J Biol Chem 1999; 274 :13933–7.
Mc Cormick, Duncan G, Goutsos T, Tufaro F. The putative tumor suppressors EXT1 and EXT 2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. Proc Natl Acad Sci USA 2000; 97 : 668–73.
Wei G, Bai X, Bame KJ, Koshy TI, Spear PG, Esko JD. Location of the glucurono-syltransferase domain in the heparan sulfate copolymerase EXT1 by analysis of Chinese hamster ovary cells. J Biol Chem 2000; 275 : 27733–40.
Francannet C, Cohen-Tanugi A, LeMerrer M, Munnich A, Bonaventure J, Legeai-Mallet L. Genotype-phenotype correlation in hereditary multiple exostoses. J Med Genet 2001; 38 : 430–4.
Lin X, Wei G, Shi Z, et al. Disruption of gastrulation and heparan sulfate biosyn-thesis in EXT1 deficient mice. Dev Biol 2000; 224 : 299–311.
Bellaiche Y, The I, Perrimon N. Tout-velu is a Drosophila homologue of the putative tumour suppressor Ext1 and is needed for Hh diffusion. Nature 1998; 394 : 85–8.
Chung UI, Schipani E, McMahon AP, Kronenberg HM. Indian hedgehog couples chondrogenesis to osteogenesis in endochondral bone development. J Clin Invest 2001; 107 : 295–304.
Ducy P, Contrôle génétique de la squelettogenèse. Med Sci 2001; 17 : 1242–51
Legeai-Mallet L, Rossi A, Benoist-Lasselin, et al. EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses. J Bone Minerail Res 2000; 15 : 1489–500.
Duncan G, McCormick C, Tufaro F. The link between heparan sulfate and hereditary bone disease : finding a function for the EXT family of putative suppressor tumor proteins. J Clin Invest 2001; 108 : 511–6.

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[1] Ahn J, Ludecke HJ, Lindow S, et al. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nat Genet 1995; 11 : 137–43.

[2] Stickens D, Clines G, Burbee D, et al. The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nat Genet 1996; 14 : 25–32.

[3] McCormick G, Leduc Y, Martindale D, et al. The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. Nat Genet 1998; 19 : 158–61.

[4] Kitagawa H, Shimakawa H, Sugahara K. The tumor suppressor EXT-like gene EXTL2 encodes an alpha1,4-N-acetylhexosaminyltransferase that transfers N-acetylga-actosamine and N-acetyl-glucosamine to the common glycosaminoglycan-protein linkage region. The key enzyme for the chain initiation of heparan sulfate. J Biol Chem 1999; 274 :13933–7.

[5] Mc Cormick, Duncan G, Goutsos T, Tufaro F. The putative tumor suppressors EXT1 and EXT 2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. Proc Natl Acad Sci USA 2000; 97 : 668–73.

[6] Wei G, Bai X, Bame KJ, Koshy TI, Spear PG, Esko JD. Location of the glucurono-syltransferase domain in the heparan sulfate copolymerase EXT1 by analysis of Chinese hamster ovary cells. J Biol Chem 2000; 275 : 27733–40.

[7] Francannet C, Cohen-Tanugi A, LeMerrer M, Munnich A, Bonaventure J, Legeai-Mallet L. Genotype-phenotype correlation in hereditary multiple exostoses. J Med Genet 2001; 38 : 430–4.

[8] Lin X, Wei G, Shi Z, et al. Disruption of gastrulation and heparan sulfate biosyn-thesis in EXT1 deficient mice. Dev Biol 2000; 224 : 299–311.

[9] Bellaiche Y, The I, Perrimon N. Tout-velu is a Drosophila homologue of the putative tumour suppressor Ext1 and is needed for Hh diffusion. Nature 1998; 394 : 85–8.

[10] Chung UI, Schipani E, McMahon AP, Kronenberg HM. Indian hedgehog couples chondrogenesis to osteogenesis in endochondral bone development. J Clin Invest 2001; 107 : 295–304.

[11] Ducy P, Contrôle génétique de la squelettogenèse. Med Sci 2001; 17 : 1242–51

[12] Legeai-Mallet L, Rossi A, Benoist-Lasselin, et al. EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses. J Bone Minerail Res 2000; 15 : 1489–500.

[13] Duncan G, McCormick C, Tufaro F. The link between heparan sulfate and hereditary bone disease : finding a function for the EXT family of putative suppressor tumor proteins. J Clin Invest 2001; 108 : 511–6.