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Volumn 15, Issue 1, 2010, Pages 153-176

Missense mutations in IHH impair Indian hedgehog signaling in C3H10T1/2 cells: Implications for brachydactyly type A1, and new targets for hedgehog signaling

Author keywords

Brachydactyly type A1; EMSA; Indian hedgehog; Microarray

Indexed keywords

BONE MORPHOGENETIC PROTEIN; PREPROENKEPHALIN; PROTEIN PATCHED 1; REGULATOR PROTEIN; SCLEROSTIN; SOMATOMEDIN BINDING PROTEIN 5; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR GLI1;

EID: 76149118077     PISSN: 14258153     EISSN: 16891392     Source Type: Journal    
DOI: 10.2478/s11658-009-0040-2     Document Type: Article
Times cited : (17)

References (55)
  • 1
    • 0019133661 scopus 로고
    • Mutations affecting segment number and polarity in Drosophila
    • Nusslein-Volhard, C. and Wieschaus, E. Mutations affecting segment number and polarity in Drosophila. Nature 287 (1980) 795-801.
    • (1980) Nature , vol.287 , pp. 795-801
    • Nusslein-Volhard, C.1    Wieschaus, E.2
  • 2
    • 0029089617 scopus 로고
    • A molecular pathway determining left-right asymmetry in chick embryogenesis
    • Levin, M., Johnson, R.L., Stern, C.D., Kuehn, M. and Tabin, C. A molecular pathway determining left-right asymmetry in chick embryogenesis. Cell 82 (1995) 803-814.
    • (1995) Cell , vol.82 , pp. 803-814
    • Levin, M.1    Johnson, R.L.2    Stern, C.D.3    Kuehn, M.4    Tabin, C.5
  • 3
    • 0027760995 scopus 로고
    • Sonic Hedgehog mediates the polarizing activity of the ZPA
    • Riddle, R.D., Johnson, R.L., Laufer, E. and Tabin, C. Sonic Hedgehog mediates the polarizing activity of the ZPA. Cell 75 (1993) 1401-1416.
    • (1993) Cell , vol.75 , pp. 1401-1416
    • Riddle, R.D.1    Johnson, R.L.2    Laufer, E.3    Tabin, C.4
  • 4
    • 0027756145 scopus 로고
    • Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity
    • Echelard, Y., Epstein, D.J., St-Jacques, B., Shen, L., Mohler, J., McMahon, J.A. and McMahon, A.P. Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity. Cell 75 (1993) 1417-1430.
    • (1993) Cell , vol.75 , pp. 1417-1430
    • Echelard, Y.1    Epstein, D.J.2    St-Jacques, B.3    Shen, L.4    Mohler, J.5    McMahon, J.A.6    McMahon, A.P.7
  • 5
    • 0030111258 scopus 로고    scopus 로고
    • Sertoli cell signaling by Desert hedgehog regulates the male germline
    • Bitgood, M.J., Shen, L. and McMahon, A.P. Sertoli cell signaling by Desert hedgehog regulates the male germline. Curr. Biol. 6 (1996) 298-304.
    • (1996) Curr. Biol , vol.6 , pp. 298-304
    • Bitgood, M.J.1    Shen, L.2    McMahon, A.P.3
  • 6
    • 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. Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science 273 (1996) 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
  • 7
    • 0030297553 scopus 로고    scopus 로고
    • Dual roles for patched in sequestering and transducing Hedgehog
    • Chen, Y. and Struhl, G. Dual roles for patched in sequestering and transducing Hedgehog. Cell (1996) 87 553-563.
    • (1996) Cell , vol.87 , pp. 553-563
    • Chen, Y.1    Struhl, G.2
  • 8
    • 0030601955 scopus 로고    scopus 로고
    • Sonic hedgehog differentially regulates expression of GLI and GLI3 during limb development
    • Marigo, V., Johnson, R.L., Vortkamp, A. and Tabin, C.J. Sonic hedgehog differentially regulates expression of GLI and GLI3 during limb development. Dev. Biol. 180 (1996) 273-283.
    • (1996) Dev. Biol , vol.180 , pp. 273-283
    • Marigo, V.1    Johnson, R.L.2    Vortkamp, A.3    Tabin, C.J.4
  • 9
    • 0030805592 scopus 로고    scopus 로고
    • Gli1 is a target of Sonic hedgehog that induces ventral neural tube development
    • Lee, J., Platt, K.A., Censullo, P. and Ruiz i Altaba, A. Gli1 is a target of Sonic hedgehog that induces ventral neural tube development. Development 124 (1997) 2537-2552.
    • (1997) Development , vol.124 , pp. 2537-2552
    • Lee, J.1    Platt, K.A.2    Censullo, P.3    Ruiz i Altaba, A.4
  • 10
    • 0033562850 scopus 로고    scopus 로고
    • Interaction of Ihh and BMP/Noggin signaling during cartilage differentiation
    • Pathi, S., Rutenberg, J.B., Johnson, R.L. and Vortkamp, A. Interaction of Ihh and BMP/Noggin signaling during cartilage differentiation. Dev. Biol. 209 (1999) 239-253.
    • (1999) Dev. Biol , vol.209 , pp. 239-253
    • Pathi, S.1    Rutenberg, J.B.2    Johnson, R.L.3    Vortkamp, A.4
  • 11
    • 0028569704 scopus 로고
    • Sonic hedgehog and Fgf-4 act through a signaling cascade and feedback loop to integrate growth and patterning of the developing limb bud
    • Laufer, E., Nelson, C.E., Johnson, R.L., Morgan, B.A. and Tabin, C. Sonic hedgehog and Fgf-4 act through a signaling cascade and feedback loop to integrate growth and patterning of the developing limb bud. Cell 79 (1994) 993-1003.
    • (1994) Cell , vol.79 , pp. 993-1003
    • Laufer, E.1    Nelson, C.E.2    Johnson, R.L.3    Morgan, B.A.4    Tabin, C.5
  • 12
    • 9344241375 scopus 로고    scopus 로고
    • Lanske, B., Karaplis, A.C., Lee, K., Luz, A., Vortkamp, A., Pirro, A., Karperien, M., Defize, L.H., Ho, C., Mulligan, R.C., Abou-Samra, A.B., Juppner, H., Segre, G.V. and Kronenberg, H.M. PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science 273 (1996) 663-666.
    • Lanske, B., Karaplis, A.C., Lee, K., Luz, A., Vortkamp, A., Pirro, A., Karperien, M., Defize, L.H., Ho, C., Mulligan, R.C., Abou-Samra, A.B., Juppner, H., Segre, G.V. and Kronenberg, H.M. PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science 273 (1996) 663-666.
  • 13
    • 0028837742 scopus 로고
    • Hedgehog and Bmp genes are coexpressed at many diverse sites of cell-cell interaction in the mouse embryo
    • Bitgood, M.J. and McMahon, A.P. Hedgehog and Bmp genes are coexpressed at many diverse sites of cell-cell interaction in the mouse embryo. Dev. Biol. 172 (1995) 126-138.
    • (1995) Dev. Biol , vol.172 , pp. 126-138
    • Bitgood, M.J.1    McMahon, A.P.2
  • 14
    • 0033567213 scopus 로고    scopus 로고
    • Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation
    • St-Jacques, B., Hammerschmidt, M. and McMahon, A.P. Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation. Genes Dev. 13 (1999) 2072-2086.
    • (1999) Genes Dev , vol.13 , pp. 2072-2086
    • St-Jacques, B.1    Hammerschmidt, M.2    McMahon, A.P.3
  • 15
    • 16644398750 scopus 로고    scopus 로고
    • Answering a century old riddle: Brachydactyly type A1
    • Gao, B. and He, L. Answering a century old riddle: brachydactyly type A1. Cell. Res. 14 (2004) 179-187.
    • (2004) Cell. Res , vol.14 , pp. 179-187
    • Gao, B.1    He, L.2
  • 18
    • 54049122121 scopus 로고    scopus 로고
    • The mode of Hedgehog binding to Ihog homologues is not conserved across different phyla
    • McLellan, J.S., Zheng, X., Hauk, G., Ghirlando, R., Beachy, P.A. and Leachy, D.J. The mode of Hedgehog binding to Ihog homologues is not conserved across different phyla. Nature 455 (2008) 979-983.
    • (2008) Nature , vol.455 , pp. 979-983
    • McLellan, J.S.1    Zheng, X.2    Hauk, G.3    Ghirlando, R.4    Beachy, P.A.5    Leachy, D.J.6
  • 20
    • 0028841677 scopus 로고
    • A potential catalytic site revealed by the 1.7-A crystal structure of the amino-terminal signalling domain of Sonic hedgehog
    • Hall, T.M., Porter, J.A., Beachy, P.A. and Leahy, D.J. A potential catalytic site revealed by the 1.7-A crystal structure of the amino-terminal signalling domain of Sonic hedgehog. Nature 378 (1995) 212-216.
    • (1995) Nature , vol.378 , pp. 212-216
    • Hall, T.M.1    Porter, J.A.2    Beachy, P.A.3    Leahy, D.J.4
  • 21
    • 4644371274 scopus 로고    scopus 로고
    • No genetic association between polymorphisms in the AMPA receptor subunit GluR4 gene (GRIA4) and schizophrenia in the Chinese population
    • Guo, S., Shi, Y., Zhao, X., Duan, S., Zhou, J., Meng, J., Yang, Y., Gu, N., Feng, G., Liu, H., Zhu, S. and He, L. No genetic association between polymorphisms in the AMPA receptor subunit GluR4 gene (GRIA4) and schizophrenia in the Chinese population. Neurosci. Lett. 369 (2004) 168-172.
    • (2004) Neurosci. Lett , vol.369 , pp. 168-172
    • Guo, S.1    Shi, Y.2    Zhao, X.3    Duan, S.4    Zhou, J.5    Meng, J.6    Yang, Y.7    Gu, N.8    Feng, G.9    Liu, H.10    Zhu, S.11    He, L.12
  • 22
    • 0034255509 scopus 로고    scopus 로고
    • Rescue of locomotor impairment in dopamine D2 receptor-deficient mice by an adenosine A2A receptor antagonist
    • Aoyama, S., Kase, H. and Borrelli, E. Rescue of locomotor impairment in dopamine D2 receptor-deficient mice by an adenosine A2A receptor antagonist. J. Neurosci. 20 (2000) 5848-5852.
    • (2000) J. Neurosci , vol.20 , pp. 5848-5852
    • Aoyama, S.1    Kase, H.2    Borrelli, E.3
  • 26
    • 1842853184 scopus 로고    scopus 로고
    • Palmitoylation is required for the production of a soluble multimeric Hedgehog protein complex and long-range signaling in vertebrates
    • Chen, M.H., Li, Y.J., Kawakami, T., Xu, S.M. and Chuang, P.T. Palmitoylation is required for the production of a soluble multimeric Hedgehog protein complex and long-range signaling in vertebrates. Genes Dev. 18 (2004) 641-659.
    • (2004) Genes Dev , vol.18 , pp. 641-659
    • Chen, M.H.1    Li, Y.J.2    Kawakami, T.3    Xu, S.M.4    Chuang, P.T.5
  • 27
    • 0242521297 scopus 로고    scopus 로고
    • Identification of a secreted BMP antagonist, ectodin, integrating BMP, FGF, and SHH signals from the tooth enamel knot
    • Laurikkala, J., Kassai, Y., Pakkasjarvi, L., Thesleff, I. and Itoh, N. Identification of a secreted BMP antagonist, ectodin, integrating BMP, FGF, and SHH signals from the tooth enamel knot. Dev. Biol. 264 (2003) 91-105.
    • (2003) Dev. Biol , vol.264 , pp. 91-105
    • Laurikkala, J.1    Kassai, Y.2    Pakkasjarvi, L.3    Thesleff, I.4    Itoh, N.5
  • 29
    • 0037085379 scopus 로고    scopus 로고
    • Gene expression profiling leads to identification of GLI1-binding elements in target genes and a role for multiple downstream pathways in GLI1-induced cell transformation
    • Yoon, J.W., Kita, Y., Frank, D.J., Majewski, R.R., Konicek, B.A., Nobrega, M.A., Jacob, H., Walterhouse, D. and Iannaccone, P. Gene expression profiling leads to identification of GLI1-binding elements in target genes and a role for multiple downstream pathways in GLI1-induced cell transformation. J. Biol. Chem. 277 (2002) 5548-5555.
    • (2002) J. Biol. Chem , vol.277 , pp. 5548-5555
    • Yoon, J.W.1    Kita, Y.2    Frank, D.J.3    Majewski, R.R.4    Konicek, B.A.5    Nobrega, M.A.6    Jacob, H.7    Walterhouse, D.8    Iannaccone, P.9
  • 30
    • 1842839986 scopus 로고    scopus 로고
    • Expression of the PTCH1 tumor suppressor gene is regulated by alternative promoters and a single functional Gli-binding site
    • Agren, M., Kogerman, P., Kleman, M.I., Wessling, M. and Toftgard, R. Expression of the PTCH1 tumor suppressor gene is regulated by alternative promoters and a single functional Gli-binding site. Gene 330 (2004) 101-114.
    • (2004) Gene , vol.330 , pp. 101-114
    • Agren, M.1    Kogerman, P.2    Kleman, M.I.3    Wessling, M.4    Toftgard, R.5
  • 31
    • 85010202835 scopus 로고    scopus 로고
    • Farabee, W.C. hereditary and sexual influence in meristic variation: a study of digital malformations in man. Thesis, Harvard University, 1903.
    • Farabee, W.C. hereditary and sexual influence in meristic variation: a study of digital malformations in man. Thesis, Harvard University, 1903.
  • 32
    • 0037383555 scopus 로고    scopus 로고
    • Homozygous mutations in IHH cause acrocapito-femoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips
    • Hellemans, J., Coucke, P.J., Giedion, A., De Paepe, A., Kramer, P., Beemer, F. and Mortier, G.R. Homozygous mutations in IHH cause acrocapito-femoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. Am. J. Hum. Genet. 72 (2003) 1040-1046.
    • (2003) Am. J. Hum. Genet , vol.72 , pp. 1040-1046
    • Hellemans, J.1    Coucke, P.J.2    Giedion, A.3    De Paepe, A.4    Kramer, P.5    Beemer, F.6    Mortier, G.R.7
  • 35
    • 4544331178 scopus 로고    scopus 로고
    • Reading the Hedgehog morphogen gradient by measuring the ratio of bound to unbound Patched protein
    • Casali, A. and Struhl, G. Reading the Hedgehog morphogen gradient by measuring the ratio of bound to unbound Patched protein. Nature 431 (2004) 76-80.
    • (2004) Nature , vol.431 , pp. 76-80
    • Casali, A.1    Struhl, G.2
  • 37
    • 0029024046 scopus 로고
    • Distinct expression and shared activities of members of the hedgehog gene family of Xenopus laevis
    • Ekker, S.C., McGrew, L.L., Lai, C.J., Lee, J.J., von Kessler, D.P., Moon, R.T. and Beachy, P.A. Distinct expression and shared activities of members of the hedgehog gene family of Xenopus laevis. Development 121 (1995) 2337-2347.
    • (1995) Development , vol.121 , pp. 2337-2347
    • Ekker, S.C.1    McGrew, L.L.2    Lai, C.J.3    Lee, J.J.4    von Kessler, D.P.5    Moon, R.T.6    Beachy, P.A.7
  • 38
    • 33646035770 scopus 로고    scopus 로고
    • The ihog cell-surface proteins bind Hedgehog and mediate pathway activation
    • Yao, S., Lum, L. and Beachy, P. The ihog cell-surface proteins bind Hedgehog and mediate pathway activation. Cell 125 (2006) 343-357.
    • (2006) Cell , vol.125 , pp. 343-357
    • Yao, S.1    Lum, L.2    Beachy, P.3
  • 39
    • 33646103902 scopus 로고    scopus 로고
    • The cell surface membrane proteins Cdo and Boc are components and targets of the Hedgehog signaling pathway and feedback network in mice
    • Tenzen, T., Allen, B.L., Cole, F., Kang, J.S., Krauss, R.S. and McMahon, A.P. The cell surface membrane proteins Cdo and Boc are components and targets of the Hedgehog signaling pathway and feedback network in mice. Dev. Cell. 10 (2006) 647-656.
    • (2006) Dev. Cell , vol.10 , pp. 647-656
    • Tenzen, T.1    Allen, B.L.2    Cole, F.3    Kang, J.S.4    Krauss, R.S.5    McMahon, A.P.6
  • 40
    • 33646120095 scopus 로고    scopus 로고
    • Cdo functions at multiple points in the Sonic Hedgehog pathway, and Cdo-deficient mice accurately model human holoprosencephaly
    • Zhang, W., Kang, J.S., Cole, F., Yi, M J. and Krauss, R.S. Cdo functions at multiple points in the Sonic Hedgehog pathway, and Cdo-deficient mice accurately model human holoprosencephaly. Dev. Cell. 10 (2006) 657-665.
    • (2006) Dev. Cell , vol.10 , pp. 657-665
    • Zhang, W.1    Kang, J.S.2    Cole, F.3    Yi, M.J.4    Krauss, R.S.5
  • 41
    • 12344310615 scopus 로고    scopus 로고
    • Functions of heparan sulfate proteoglycans in cell signaling during development
    • Lin, X. Functions of heparan sulfate proteoglycans in cell signaling during development. Development 131 (2004) 6009-6021.
    • (2004) Development , vol.131 , pp. 6009-6021
    • Lin, X.1
  • 42
    • 0012956403 scopus 로고    scopus 로고
    • CDO, a robo-related cell surface protein that mediates myogenic differentiation
    • Kang, J.S., Mulieri, P.J., Miller, C., Sassoon, D.A. and Krauss, R.S. CDO, a robo-related cell surface protein that mediates myogenic differentiation. J. Cell. Biol. 143 (1998) 403-413.
    • (1998) J. Cell. Biol , vol.143 , pp. 403-413
    • Kang, J.S.1    Mulieri, P.J.2    Miller, C.3    Sassoon, D.A.4    Krauss, R.S.5
  • 43
    • 0034698302 scopus 로고    scopus 로고
    • Interdigital regulation of digit identity and homeotic transformation by modulated BMP signaling
    • Dahn, R.D. and Fallon, J.F. Interdigital regulation of digit identity and homeotic transformation by modulated BMP signaling. Science 289 (2000) 438-441.
    • (2000) Science , vol.289 , pp. 438-441
    • Dahn, R.D.1    Fallon, J.F.2
  • 44
    • 0034747252 scopus 로고    scopus 로고
    • BMP and Ihh/PTHrP signaling interact to coordinate chondrocyte proliferation and differentiation
    • Minina, E., Wenzel, H.M., Kreschel, C., Karp, S., Gaffield, W., McMahon, A.P. and Vortkamp, A. BMP and Ihh/PTHrP signaling interact to coordinate chondrocyte proliferation and differentiation. Development 128 (2001) 4523-4534.
    • (2001) Development , vol.128 , pp. 4523-4534
    • Minina, E.1    Wenzel, H.M.2    Kreschel, C.3    Karp, S.4    Gaffield, W.5    McMahon, A.P.6    Vortkamp, A.7
  • 45
    • 0035929599 scopus 로고    scopus 로고
    • Indian Hedgeog is an essential component of mechanotransduction complex to stimulate chondrocyte proliferation
    • Wu, Q., Zhang, Y. and Chen, Q. Indian Hedgeog is an essential component of mechanotransduction complex to stimulate chondrocyte proliferation. J. Biol. Cem. 276 (2001) 35290-35296.
    • (2001) J. Biol. Cem , vol.276 , pp. 35290-35296
    • Wu, Q.1    Zhang, Y.2    Chen, Q.3
  • 49
    • 0032824874 scopus 로고    scopus 로고
    • Expression of the components of the insulin-like growth factor axis across the growth-plate
    • Olney, R.C. and Mougey, E.B. Expression of the components of the insulin-like growth factor axis across the growth-plate. Mol. Cell. Endocrinol. 156 (1999) 63-71.
    • (1999) Mol. Cell. Endocrinol , vol.156 , pp. 63-71
    • Olney, R.C.1    Mougey, E.B.2
  • 51
    • 0037007146 scopus 로고    scopus 로고
    • In vitro cartilage formation by human adult stem cells from bone marrow stroma defines the sequence of cellular and molecular events during chon-drogenesis
    • Sekiya, I., Vuoristo, J.T., Larson, B.L. and Prockop, D.J. In vitro cartilage formation by human adult stem cells from bone marrow stroma defines the sequence of cellular and molecular events during chon-drogenesis. Proc. Natl. Acad. Sci. U. S. A. 99 (2002) 4397-4402.
    • (2002) Proc. Natl. Acad. Sci. U. S. A , vol.99 , pp. 4397-4402
    • Sekiya, I.1    Vuoristo, J.T.2    Larson, B.L.3    Prockop, D.J.4
  • 52
    • 0043160587 scopus 로고    scopus 로고
    • Allan, G.J., Zannoni, A., McKinnell, I., Otto, W.R., Holzenberger, M., Flint, D.J. and Patel, K. Major components of the insulin-like growth factor axis are expressed early in chicken embryogenesis, with IGF binding protein (IGFBP)-5 expression subject to regulation by Sonic hedgehog. Anat. Embryol. (Berl) 207 (2003) 73-84.
    • Allan, G.J., Zannoni, A., McKinnell, I., Otto, W.R., Holzenberger, M., Flint, D.J. and Patel, K. Major components of the insulin-like growth factor axis are expressed early in chicken embryogenesis, with IGF binding protein (IGFBP)-5 expression subject to regulation by Sonic hedgehog. Anat. Embryol. (Berl) 207 (2003) 73-84.
  • 53
    • 0034125264 scopus 로고    scopus 로고
    • Altered expression of insulin-like growth factor-1 and insulin like growth factor binding proteins-2 and 5 in the mouse mutant Hypodactyly (Hd) correlates with sites of apoptotic activity
    • Allan, G.J., Flint, D.J., Darling, S.M., Geh, J. and Patel, K. Altered expression of insulin-like growth factor-1 and insulin like growth factor binding proteins-2 and 5 in the mouse mutant Hypodactyly (Hd) correlates with sites of apoptotic activity. Anat. Embryol. (Berl) 202 (2000) 1-11.
    • (2000) Anat. Embryol. (Berl) , vol.202 , pp. 1-11
    • Allan, G.J.1    Flint, D.J.2    Darling, S.M.3    Geh, J.4    Patel, K.5
  • 55
    • 0032577276 scopus 로고    scopus 로고
    • Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton
    • Brunet, L.J., McMaon, J.A., McMaon, A.P. and Harland, R.M. Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton. Science 280 (1998) 1455-1457.
    • (1998) Science , vol.280 , pp. 1455-1457
    • Brunet, L.J.1    McMaon, J.A.2    McMaon, A.P.3    Harland, R.M.4


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