메뉴 건너뛰기




Volumn 8, Issue 1, 1999, Pages 35-44

A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR; GLUTAMIC ACID; LYSINE; PROTEIN P16; STAT1 PROTEIN; STAT5 PROTEIN; STAT5B PROTEIN;

EID: 0032938128     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.1.35     Document Type: Article
Times cited : (197)

References (49)
  • 1
    • 2642595047 scopus 로고    scopus 로고
    • The roles of FGFs in the early development of vertebrate limbs
    • Martin, G.R. (1998) The roles of FGFs in the early development of vertebrate limbs. Genes Dev., 12, 1571-1586.
    • (1998) Genes Dev. , vol.12 , pp. 1571-1586
    • Martin, G.R.1
  • 2
    • 0030950406 scopus 로고    scopus 로고
    • Chimeras of the native form or achondroplasia mutant (G375C) of human fibroblast growth factor receptor 3 induce ligand-dependent differentiation of PC12 cells
    • Thompson, L.M., Raffioni, S., Wasmuth, J.J. and Bradshaw, R.A. (1997) Chimeras of the native form or achondroplasia mutant (G375C) of human fibroblast growth factor receptor 3 induce ligand-dependent differentiation of PC12 cells. Mol. Cell. Biol., 17, 4169-4177.
    • (1997) Mol. Cell. Biol. , vol.17 , pp. 4169-4177
    • Thompson, L.M.1    Raffioni, S.2    Wasmuth, J.J.3    Bradshaw, R.A.4
  • 4
    • 0027964261 scopus 로고
    • Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
    • Shiang, R., Thompson, L.M., Zhu, Y.Z., Church, D.M., Fielder, T.J., Bocian, M., Winokur, S.T. and Wasmuth, J.J. (1994) Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell, 78, 335-342.
    • (1994) Cell , vol.78 , pp. 335-342
    • Shiang, R.1    Thompson, L.M.2    Zhu, Y.Z.3    Church, D.M.4    Fielder, T.J.5    Bocian, M.6    Winokur, S.T.7    Wasmuth, J.J.8
  • 7
    • 0022493547 scopus 로고
    • The birth prevalence rates for the skeletal dysplasias
    • Orioli, I.M., Castilla, E.E. and Barbosa-Neto, J.G. (1986) The birth prevalence rates for the skeletal dysplasias. J. Med. Genet., 23, 328-332.
    • (1986) J. Med. Genet. , vol.23 , pp. 328-332
    • Orioli, I.M.1    Castilla, E.E.2    Barbosa-Neto, J.G.3
  • 8
    • 0029767878 scopus 로고    scopus 로고
    • Mutations of FGFR3 gene cause 3 types of nanisms with variable severity: Achondroplasia, thanatophoric nanism and hypochondroplasia
    • Rousseau, F., Bonaventure, J., Le Merrer, M., Maroteaux, P. and Munnich, A. (1996) [Mutations of FGFR3 gene cause 3 types of nanisms with variable severity: achondroplasia, thanatophoric nanism and hypochondroplasia]. Ann. Endocrinol. (Paris), 57, 153.
    • (1996) Ann. Endocrinol. (Paris) , vol.57 , pp. 153
    • Rousseau, F.1    Bonaventure, J.2    Le Merrer, M.3    Maroteaux, P.4    Munnich, A.5
  • 9
    • 0029917507 scopus 로고    scopus 로고
    • Fibroblast growth factor receptor 3 is a negative regulator of bone growth
    • Deng, C., Wynshaw-Boris, A., Zhou, F., Kuo, A. and Leder, P. (1996) Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell, 84, 911-921.
    • (1996) Cell , vol.84 , pp. 911-921
    • Deng, C.1    Wynshaw-Boris, A.2    Zhou, F.3    Kuo, A.4    Leder, P.5
  • 10
    • 0029928791 scopus 로고    scopus 로고
    • Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3
    • Colvin, J.S., Bohne, B.A., Harding, G.W., McEwen, D.G. and Ornitz, D.M. (1996) Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nature Genet., 12, 390-397.
    • (1996) Nature Genet. , vol.12 , pp. 390-397
    • Colvin, J.S.1    Bohne, B.A.2    Harding, G.W.3    McEwen, D.G.4    Ornitz, D.M.5
  • 11
    • 0029935895 scopus 로고    scopus 로고
    • Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia
    • Naski, M.C., Wang, Q., Xu, J. and Ornitz, D.M. (1996) Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Nature Genet., 13, 233-237.
    • (1996) Nature Genet. , vol.13 , pp. 233-237
    • Naski, M.C.1    Wang, Q.2    Xu, J.3    Ornitz, D.M.4
  • 12
    • 0030064347 scopus 로고    scopus 로고
    • Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia
    • Webster, M.K. and Donoghue, D.J. (1996) Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. EMBO J., 15, 520-527.
    • (1996) EMBO J. , vol.15 , pp. 520-527
    • Webster, M.K.1    Donoghue, D.J.2
  • 13
    • 0029945085 scopus 로고    scopus 로고
    • Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II
    • Webster, M.K., D'Avis, P.Y. Robertson, S.C. and Donoghue, D.J. (1996) Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II. Mol. Cell. Biol., 16, 4081-4087.
    • (1996) Mol. Cell. Biol. , vol.16 , pp. 4081-4087
    • Webster, M.K.1    D'Avis, P.Y.2    Robertson, S.C.3    Donoghue, D.J.4
  • 14
    • 0030896404 scopus 로고    scopus 로고
    • Activation of Statl by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism
    • Su, W.C., Kitagawa, M., Xue, N., Xie, B., Garofalo, S., Cho, J., Deng, C., Horton, W.A. and Fu, X.Y. (1997) Activation of Statl by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism. Nature, 386, 288-292.
    • (1997) Nature , vol.386 , pp. 288-292
    • Su, W.C.1    Kitagawa, M.2    Xue, N.3    Xie, B.4    Garofalo, S.5    Cho, J.6    Deng, C.7    Horton, W.A.8    Fu, X.Y.9
  • 15
    • 0027496935 scopus 로고
    • The p21 Cdk-interacting protein Cip1 is a potent inhibitor of G1 cyclin-dependent kinases
    • Harper, J.W., Adami, G.R., Wei, N., Keyomarsi, K. and Elledge, S.J. (1993) The p21 Cdk-interacting protein Cip1 is a potent inhibitor of G1 cyclin-dependent kinases. Cell, 75, 805-816.
    • (1993) Cell , vol.75 , pp. 805-816
    • Harper, J.W.1    Adami, G.R.2    Wei, N.3    Keyomarsi, K.4    Elledge, S.J.5
  • 18
    • 0028978183 scopus 로고
    • Mice lacking p21C1P1/WAF1 undergo normal development, but are defective in G1 checkpoint control
    • Deng, C., Zhang, P., Harper, J.W., Elledge, S.J. and Leder, P. (1995) Mice lacking p21C1P1/WAF1 undergo normal development, but are defective in G1 checkpoint control. Cell, 82, 675-684.
    • (1995) Cell , vol.82 , pp. 675-684
    • Deng, C.1    Zhang, P.2    Harper, J.W.3    Elledge, S.J.4    Leder, P.5
  • 19
    • 0028973212 scopus 로고
    • Overexpression of p21WAF1/CIP1 induces growth arrest, giant cell formation and apoptosis in human breast carcinoma cell lines
    • Sheikh, M.S., Rochefort, H. and Garcia, M. (1995) Overexpression of p21WAF1/CIP1 induces growth arrest, giant cell formation and apoptosis in human breast carcinoma cell lines. Oncogene, 11, 1899-1905.
    • (1995) Oncogene , vol.11 , pp. 1899-1905
    • Sheikh, M.S.1    Rochefort, H.2    Garcia, M.3
  • 20
    • 0026665252 scopus 로고
    • Ligand specificity and heparin dependence of fibroblast growth factor receptors 1 and 3
    • Ornitz, D.M. and Leder, P. ( 1992) Ligand specificity and heparin dependence of fibroblast growth factor receptors 1 and 3. J. Biol. Chem., 267, 16305-16311.
    • (1992) J. Biol. Chem. , vol.267 , pp. 16305-16311
    • Ornitz, D.M.1    Leder, P.2
  • 21
    • 0032584068 scopus 로고    scopus 로고
    • The tumor suppressor SMAD4/DPC4 is essential for epiblast proliferation and mesoderm induction in mice
    • Yang, X., Li, C., Xu, X. and Deng, C. (1998) The tumor suppressor SMAD4/DPC4 is essential for epiblast proliferation and mesoderm induction in mice. Proc. Natl Acad. Sci. USA, 95, 3667-3672.
    • (1998) Proc. Natl Acad. Sci. USA , vol.95 , pp. 3667-3672
    • Yang, X.1    Li, C.2    Xu, X.3    Deng, C.4
  • 23
    • 0026770248 scopus 로고
    • Interferon-dependent tyrosine phosphorylation of a latent cytoplasmic transcription factor
    • Schindler, C., Shuai, K., Prezioso, V.R. and Darnell, J.E. Jr (1992) Interferon-dependent tyrosine phosphorylation of a latent cytoplasmic transcription factor. Science, 257, 809-813.
    • (1992) Science , vol.257 , pp. 809-813
    • Schindler, C.1    Shuai, K.2    Prezioso, V.R.3    Darnell J.E., Jr.4
  • 24
    • 0027372119 scopus 로고
    • Transcription factor p91 interacts with the epidermal growth factor receptor and mediates activation of the c-fos gene promoter
    • Fu, X.Y. and Zhang, J.J. (1993) Transcription factor p91 interacts with the epidermal growth factor receptor and mediates activation of the c-fos gene promoter. Cell, 74, 1135-1145.
    • (1993) Cell , vol.74 , pp. 1135-1145
    • Fu, X.Y.1    Zhang, J.J.2
  • 26
    • 0030773251 scopus 로고    scopus 로고
    • Fibroblast growth factor receptor 3 and the human chondrodysplasias
    • Horton, W.A. (1997) Fibroblast growth factor receptor 3 and the human chondrodysplasias. Curr. Opin. Pediatr., 9, 437-442.
    • (1997) Curr. Opin. Pediatr. , vol.9 , pp. 437-442
    • Horton, W.A.1
  • 27
    • 0029132035 scopus 로고
    • Fibroblast-growth-factor receptor mutations in human skeletal disorders
    • Muenke, M. and Schell, U. (1995) Fibroblast-growth-factor receptor mutations in human skeletal disorders. Trends Genet., 11, 308-313.
    • (1995) Trends Genet. , vol.11 , pp. 308-313
    • Muenke, M.1    Schell, U.2
  • 28
    • 0029243620 scopus 로고
    • Craniofacial syndromes: No such thing as a single gene disease
    • Erratum. Nature Genet. (1995) 9, 451
    • Mulvihill, J.J. (1995) Craniofacial syndromes: no such thing as a single gene disease. Nature Genet. 9, 101-103. [Erratum. Nature Genet. (1995) 9, 451.]
    • (1995) Nature Genet. , vol.9 , pp. 101-103
    • Mulvihill, J.J.1
  • 29
    • 0029681718 scopus 로고    scopus 로고
    • Craniosynostosis and skeletal dysplasias: Fibroblast growth factor receptor defects
    • Lewanda, A.F., Meyers, G.A. and Jabs, E.W. (1996) Craniosynostosis and skeletal dysplasias: fibroblast growth factor receptor defects. Proc. Assoc. Am. Physicians, 108, 19-24.
    • (1996) Proc. Assoc. Am. Physicians , vol.108 , pp. 19-24
    • Lewanda, A.F.1    Meyers, G.A.2    Jabs, E.W.3
  • 30
    • 0031005778 scopus 로고    scopus 로고
    • FGFR activation in skeletal disorders: Too much of a good thing
    • Webster, M.K. and Donoghue, D.J. (1997) FGFR activation in skeletal disorders: too much of a good thing. Trends Genet., 13, 178-182.
    • (1997) Trends Genet. , vol.13 , pp. 178-182
    • Webster, M.K.1    Donoghue, D.J.2
  • 31
    • 0032574824 scopus 로고    scopus 로고
    • Targeted disruption of fibroblast growth factor (FGF) receptor 2 suggests a role for FGF signaling in pregastrulation mammalian development
    • Arman, E., Haffner-Krausz, R., Chen, Y., Heath, J.K. and Lonai, P. (1998) Targeted disruption of fibroblast growth factor (FGF) receptor 2 suggests a role for FGF signaling in pregastrulation mammalian development. Proc. Natl Acad. Sci. USA, 95, 5082-5087.
    • (1998) Proc. Natl Acad. Sci. USA , vol.95 , pp. 5082-5087
    • Arman, E.1    Haffner-Krausz, R.2    Chen, Y.3    Heath, J.K.4    Lonai, P.5
  • 32
    • 0031149883 scopus 로고    scopus 로고
    • Fibroblast growth factor receptor-1 (FGFR-1) is essential for normal neural tube and limb development
    • Deng, C., Bedford, M., Li, C., Xu, X., Yang, X., Dunmore, J. and Leder, P. (1997) Fibroblast growth factor receptor-1 (FGFR-1) is essential for normal neural tube and limb development. Dev. Biol., 185, 42-54.
    • (1997) Dev. Biol. , vol.185 , pp. 42-54
    • Deng, C.1    Bedford, M.2    Li, C.3    Xu, X.4    Yang, X.5    Dunmore, J.6    Leder, P.7
  • 33
    • 0028598814 scopus 로고
    • Murine FGFR-I is required for early postimplantation growth and axial organization
    • Deng, C.X., Wynshaw-Boris, A., Shen, M.M., Daugherty, C., Ornitz, D.M. and Leder, P. (1994) Murine FGFR-I is required for early postimplantation growth and axial organization. Genes Dev., 8, 3045-3057.
    • (1994) Genes Dev. , vol.8 , pp. 3045-3057
    • Deng, C.X.1    Wynshaw-Boris, A.2    Shen, M.M.3    Daugherty, C.4    Ornitz, D.M.5    Leder, P.6
  • 34
    • 0031885801 scopus 로고    scopus 로고
    • Fibroblast growth factor receptor 2 (FGFR2)-mediated reciprocal regulation loop between FGF8 and FGF10 is essential for limb induction
    • Xu, X., Weinstein, M., Li, C., Naski, M., Cohen, R.I., Ornitz, D.M., Leder, P. and Deng, C. (1998) Fibroblast growth factor receptor 2 (FGFR2)-mediated reciprocal regulation loop between FGF8 and FGF10 is essential for limb induction. Development, 125, 753-765.
    • (1998) Development , vol.125 , pp. 753-765
    • Xu, X.1    Weinstein, M.2    Li, C.3    Naski, M.4    Cohen, R.I.5    Ornitz, D.M.6    Leder, P.7    Deng, C.8
  • 35
    • 0028582035 scopus 로고
    • fgfr-1 is required for embryonic growth and mesodermal patterning during mouse gastrulation
    • Yamaguchi, T.P., Harpal, K., Henkemeyer, M. and Rossant, J. (1994) fgfr-1 is required for embryonic growth and mesodermal patterning during mouse gastrulation. Genes Dev., 8, 3032-3044.
    • (1994) Genes Dev. , vol.8 , pp. 3032-3044
    • Yamaguchi, T.P.1    Harpal, K.2    Henkemeyer, M.3    Rossant, J.4
  • 38
    • 0015594451 scopus 로고
    • Observations suggesting allelism of the achondroplasia and hypochondroplasia genes
    • McKusick, V.A., Kelly, T.E. and Dorst, J.P. (1973) Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. J. Med. Genet., 10, 11-16.
    • (1973) J. Med. Genet. , vol.10 , pp. 11-16
    • McKusick, V.A.1    Kelly, T.E.2    Dorst, J.P.3
  • 39
    • 0028170817 scopus 로고
    • Receptor protein-tyrosine kinases and their signal transduction pathways
    • van der Geer, P., Hunter, T. and Lindberg, R.A. ( 1994) Receptor protein-tyrosine kinases and their signal transduction pathways. Ann. Rev. Cell. Biol., 10, 251-337.
    • (1994) Ann. Rev. Cell. Biol. , vol.10 , pp. 251-337
    • Van Der Geer, P.1    Hunter, T.2    Lindberg, R.A.3
  • 42
    • 0029811142 scopus 로고    scopus 로고
    • Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes chondrodysplasia and delayed endochondral bone formation
    • Weir, E.C., Philbrick, W.M., Amling, M., Neff, L.A., Baron, R. and Broadus, A.E. (1996) Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes chondrodysplasia and delayed endochondral bone formation. Proc. Natl Acad. Sci. USA, 93, 10240-10245.
    • (1996) Proc. Natl Acad. Sci. USA , vol.93 , pp. 10240-10245
    • Weir, E.C.1    Philbrick, W.M.2    Amling, M.3    Neff, L.A.4    Baron, R.5    Broadus, A.E.6
  • 43
    • 0030837522 scopus 로고    scopus 로고
    • Parathyroid hormone-related peptide and the parathyroid hormone/parathyroid hormone-related peptide receptor in skeletal development
    • Karaplis, A.C. and Vautour, L. (1997) Parathyroid hormone-related peptide and the parathyroid hormone/parathyroid hormone-related peptide receptor in skeletal development. Curr. Opin. Nephrol. Hypertension, 6, 308-313.
    • (1997) Curr. Opin. Nephrol. Hypertension , vol.6 , pp. 308-313
    • Karaplis, A.C.1    Vautour, L.2
  • 44
    • 0027968182 scopus 로고
    • Parathyroid hormone-related peptide-depleted mice show abnormal epiphyseal cartilage development and altered endochondral bone formation
    • Amizuka, N., Warshawsky, H., Henderson, J.E., Goltzman, D. and Karaplis, A.C. (1994) Parathyroid hormone-related peptide-depleted mice show abnormal epiphyseal cartilage development and altered endochondral bone formation. J. Cell. Biol., 126, 1611-1623.
    • (1994) J. Cell. Biol. , vol.126 , pp. 1611-1623
    • Amizuka, N.1    Warshawsky, H.2    Henderson, J.E.3    Goltzman, D.4    Karaplis, A.C.5
  • 45
    • 0029750190 scopus 로고    scopus 로고
    • Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein
    • Vortkamp, A., Lee, K., Lanske, B., Segre, G.V., Kronenberg, H.M. and Tabin, C.J. (1996) Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science, 273, 613-622.
    • (1996) Science , vol.273 , pp. 613-622
    • Vortkamp, A.1    Lee, K.2    Lanske, B.3    Segre, G.V.4    Kronenberg, H.M.5    Tabin, C.J.6
  • 46
    • 0032557555 scopus 로고    scopus 로고
    • Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia
    • Legeai-Mallet, L., Benoist-Lasselin, C., Delezoide, A.L., Munnich, A. and Bonaventure, J. (1998) Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia. J. Biol. Chem., 273, 13007-13014.
    • (1998) J. Biol. Chem. , vol.273 , pp. 13007-13014
    • Legeai-Mallet, L.1    Benoist-Lasselin, C.2    Delezoide, A.L.3    Munnich, A.4    Bonaventure, J.5
  • 47
    • 0028867922 scopus 로고
    • Genomic organization of the mouse fibroblast growth factor receptor 3 (Fgfr3) gene
    • Perez-Castro, A.V., Wilson, J. and Altherr, M.R. (1995) Genomic organization of the mouse fibroblast growth factor receptor 3 (Fgfr3) gene. Genomics, 30, 157-162.
    • (1995) Genomics , vol.30 , pp. 157-162
    • Perez-Castro, A.V.1    Wilson, J.2    Altherr, M.R.3
  • 48
    • 0019126423 scopus 로고
    • Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S
    • McLeod, M.J. (1980) Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S. Teratology, 22, 299-301.
    • (1980) Teratology , vol.22 , pp. 299-301
    • McLeod, M.J.1
  • 49
    • 0029658034 scopus 로고    scopus 로고
    • Induction of p18INK4c and its predominant association with CDK4 and CDK6 during myogenic differentiation
    • Franklin, D.S. and Xiong, Y. (1996) Induction of p18INK4c and its predominant association with CDK4 and CDK6 during myogenic differentiation. Mol. Biol. Cell, 7, 1587-1599.
    • (1996) Mol. Biol. Cell , vol.7 , pp. 1587-1599
    • Franklin, D.S.1    Xiong, Y.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.