메뉴 건너뛰기




Volumn 11, Issue 22, 2002, Pages 2793-2804

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; T BOX TRANSCRIPTION FACTOR;

EID: 0037108753     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.22.2793     Document Type: Article
Times cited : (83)

References (59)
  • 1
    • 0023694945 scopus 로고
    • Palate development
    • Ferguson, M.W. (1988) Palate development. Development, 103(Suppl.), 41-60.
    • (1988) Development , vol.103 , Issue.SUPPL. , pp. 41-60
    • Ferguson, M.W.1
  • 2
    • 0035374608 scopus 로고    scopus 로고
    • Genetics of craniofacial development and malformation
    • Wilkie, A.O. and Morriss-Kay, G.M. (2001) Genetics of craniofacial development and malformation. Nat. Rev. Genet., 2, 458-468.
    • (2001) Nat. Rev. Genet , vol.2 , pp. 458-468
    • Wilkie, A.O.1    Morriss-Kay, G.M.2
  • 4
    • 0002560817 scopus 로고
    • The genetics of cleft lip and palate: Yet another look
    • Pratt RM, Christiansen KL (eds), Elsevier, New York
    • Fraser, F.C. (1980) The genetics of cleft lip and palate: yet another look. In: Pratt RM, Christiansen KL (eds), Current Research Trends in Prenatal Craniofacial Development. Elsevier, New York, pp. 357-366.
    • (1980) Current Research Trends in Prenatal Craniofacial Development , pp. 357-366
    • Fraser, F.C.1
  • 5
    • 0034425423 scopus 로고    scopus 로고
    • Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
    • (2000) Nat
    • Suzuki, K., Hu, D, Bustos, T., Zlotogora, J., Richieri-Costa, A., Helms, J.A. and Spritz, R.A. (2000) Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. (2000) Nat. Genet., 25, 427-430.
    • (2000) Genet , vol.25 , pp. 427-430
    • Suzuki, K.1    Hu, D.2    Bustos, T.3    Zlotogora, J.4    Richieri-Costa, A.5    Helms, J.A.6    Spritz, R.A.7
  • 10
    • 0029160584 scopus 로고
    • Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type
    • Tiller, G.E., Polumbo, P.A., Weis, M.A., Bogaert, R., Lachman, R.S., Cohn, D.H., Rimoin, D.L. and Eyre, D.R. (1995) Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. Nat. Genet., 11, 87-89.
    • (1995) Nat. Genet , vol.11 , pp. 87-89
    • Tiller, G.E.1    Polumbo, P.A.2    Weis, M.A.3    Bogaert, R.4    Lachman, R.S.5    Cohn, D.H.6    Rimoin, D.L.7    Eyre, D.R.8
  • 11
    • 0029833063 scopus 로고    scopus 로고
    • A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in α1 (XI) collagen
    • Richards, A.J., Yates, J.R., Williams, R., Payne, S.J., Pope, F.M., Scott J. D. and Snead, M.P. (1996) A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in α1 (XI) collagen. Hum. Mol. Genet., 5, 1339-1343.
    • (1996) Hum. Mol. Genet , vol.5 , pp. 1339-1343
    • Richards, A.J.1    Yates, J.R.2    Williams, R.3    Payne, S.J.4    Pope, F.M.5    Scott, J.D.6    Snead, M.P.7
  • 12
    • 0034789530 scopus 로고    scopus 로고
    • Mutation of PVRL1 is associated with sporadic, non-syndromic cleft/lip palate in northern Venezuela
    • Sozen, M.A., Suzuki, K., Tolarova, M.M., Bustos, T., Fernandez Iglesias, J.E. and Spritz, R.A. (2001) Mutation of PVRL1 is associated with sporadic, non-syndromic cleft/lip palate in northern Venezuela. Nat. Genet., 29, 141-142.
    • (2001) Nat. Genet , vol.29 , pp. 141-142
    • Sozen, M.A.1    Suzuki, K.2    Tolarova, M.M.3    Bustos, T.4    Fernandez Iglesias, J.E.5    Spritz, R.A.6
  • 13
    • 0034028899 scopus 로고    scopus 로고
    • MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans
    • Van den Boogard, M-J. H., Dorland, M., Beemer, F.A. and Ploos van Amstel, H.K. (2000) MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat. Genet., 24, 342-343.
    • (2000) Nat. Genet , vol.24 , pp. 342-343
    • Van den Boogard, M-J.H.1    Dorland, M.2    Beemer, F.A.3    Ploos van Amstel, H.K.4
  • 17
    • 0026769167 scopus 로고
    • The gene responsible for X-linked cleft palate (CPX) in a British Columbian native kindred is localized between PGK1 and DXYS1
    • Gorski, S.M., Adams, K.J., Birch, P.H., Friedman, J.M. and Goodfellow, P.J. (1992) The gene responsible for X-linked cleft palate (CPX) in a British Columbian native kindred is localized between PGK1 and DXYS1. Am. J. Hum. Genet., 50, 1129-1136.
    • (1992) Am. J. Hum. Genet , vol.50 , pp. 1129-1136
    • Gorski, S.M.1    Adams, K.J.2    Birch, P.H.3    Friedman, J.M.4    Goodfellow, P.J.5
  • 18
    • 0028168058 scopus 로고
    • Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Menonite and British Columbia Native kindreds
    • Gorski, S.M., Adams, K.J., Birch, P.H., Chodirker, B.N., Greenberg, C.R. and Goodfellow, P.J. (1994) Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Menonite and British Columbia Native kindreds. Hum. Genet., 94, 141-148.
    • (1994) Hum. Genet , vol.94 , pp. 141-148
    • Gorski, S.M.1    Adams, K.J.2    Birch, P.H.3    Chodirker, B.N.4    Greenberg, C.R.5    Goodfellow, P.J.6
  • 19
    • 0011060417 scopus 로고    scopus 로고
    • X-linked cleft palate and ankyloglossia: Refinement of the minimal critical region in Xq21,3
    • American Society of Human Genetics Meeting. Philadelphia, October 12-16, 2000
    • Marçano, A-C.B., Ming, J.E., Du, Y.Z., George, R.A., Ryan, S.G., Richieri-Costa, A. and Muenke, M. (2000) X-linked cleft palate and ankyloglossia: refinement of the minimal critical region in Xq21,3. American Society of Human Genetics Meeting. Philadelphia, October 12-16, 2000.
    • (2000)
    • Marçano, A-C.B.1    Ming, J.E.2    Du, Y.Z.3    George, R.A.4    Ryan, S.G.5    Richieri-Costa, A.6    Muenke, M.7
  • 21
    • 0035115845 scopus 로고    scopus 로고
    • T-targets: Clues to understanding the functions of T-box proteins
    • Tada, M. and Smith, J.C. (2001) T-targets: Clues to understanding the functions of T-box proteins. Dev. Growth Differ., 43, 1-11.
    • (2001) Dev. Growth Differ , vol.43 , pp. 1-11
    • Tada, M.1    Smith, J.C.2
  • 25
    • 0035098557 scopus 로고    scopus 로고
    • DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbxl
    • Jerome, L.A. and Papaioannoum V.E. (2001) DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbxl. Nat. Genet., 27, 286-291.
    • (2001) Nat. Genet , vol.27 , pp. 286-291
    • Jerome, L.A.1    Papaioannoum, V.E.2
  • 27
    • 0039706410 scopus 로고    scopus 로고
    • Crystallographic structure of the T domain-DNA complex of the Brachyury transcription factor
    • Muller, C.W. and Herrmann, B.G. (1997) Crystallographic structure of the T domain-DNA complex of the Brachyury transcription factor. Nature, 389, 884-888.
    • (1997) Nature , vol.389 , pp. 884-888
    • Muller, C.W.1    Herrmann, B.G.2
  • 28
    • 0027328095 scopus 로고
    • The localisation of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X
    • Stanier, P., Forbes, S.A., Arnason, A., Bjornsson, A., Sveinbjornsdottir, E., Williamson, R. and Moore, G.E. (1993) The localisation of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X. Genomics, 17, 549-555.
    • (1993) Genomics , vol.17 , pp. 549-555
    • Stanier, P.1    Forbes, S.A.2    Arnason, A.3    Bjornsson, A.4    Sveinbjornsdottir, E.5    Williamson, R.6    Moore, G.E.7
  • 29
    • 0030064383 scopus 로고    scopus 로고
    • Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3
    • Forbes, S.A., Brennan, L., Richardson, M., Coffey, A., Bentley, D., Mumm, S., Moore, G.E. and Stanier, P. (1996) Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia. locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3. Genomics, 31, 36-43.
    • (1996) Genomics , vol.31 , pp. 36-43
    • Forbes, S.A.1    Brennan, L.2    Richardson, M.3    Coffey, A.4    Bentley, D.5    Mumm, S.6    Moore, G.E.7    Stanier, P.8
  • 30
    • 0034687160 scopus 로고    scopus 로고
    • Molecular characterisation of a new human T-box gene (TBX22) located in Xq21.1 encoding a protein containing a truricated T-domain
    • Laugier-Anfossi, F. and Villard, L. (2000) Molecular characterisation of a new human T-box gene (TBX22) located in Xq21.1 encoding a protein containing a truricated T-domain. Gene, 255, 289-296.
    • (2000) Gene , vol.255 , pp. 289-296
    • Laugier-Anfossi, F.1    Villard, L.2
  • 34
    • 0027282961 scopus 로고
    • The Brachyury gene encodes a novel DNA binding protein
    • Kispert, A. and Herrmann, B.G. (1993) The Brachyury gene encodes a novel DNA binding protein. EMBO J, 12, 3211-3220.
    • (1993) EMBO J , vol.12 , pp. 3211-3220
    • Kispert, A.1    Herrmann, B.G.2
  • 35
    • 0031792721 scopus 로고    scopus 로고
    • The T-box transcription factor Brachyury regulates expression of eFGF through binding to a non-palindromic response element
    • Casey, E.S., O'Reilly, M.A., Conlon, R.L. and Smith, J.C. (1998) The T-box transcription factor Brachyury regulates expression of eFGF through binding to a non-palindromic response element. Development, 125, 3887-3894.
    • (1998) Development , vol.125 , pp. 3887-3894
    • Casey, E.S.1    O'Reilly, M.A.2    Conlon, R.L.3    Smith, J.C.4
  • 36
    • 0031736991 scopus 로고    scopus 로고
    • Bix1, a direct target of Xenopus T-box genes, causes formation of ventral mesoderm and endoderm
    • Tada, M., Casey, E.S., Fairclough, L. and Smith, J.C. (1998) Bix1, a direct target of Xenopus T-box genes, causes formation of ventral mesoderm and endoderm. Development, 125, 3997-4006.
    • (1998) Development , vol.125 , pp. 3997-4006
    • Tada, M.1    Casey, E.S.2    Fairclough, L.3    Smith, J.C.4
  • 37
    • 0031812415 scopus 로고    scopus 로고
    • Brachyury-related transcription factor Tbx2 and repression of the melanocyte-specific TRP-1 promoter
    • Carreira, S., Dexter, T.J., Yavuzer, U, Easty, D.J. and Goding, C.R. (1998) Brachyury-related transcription factor Tbx2 and repression of the melanocyte-specific TRP-1 promoter. Mol. Cell Biol., 18, 5099-5108.
    • (1998) Mol. Cell Biol , vol.18 , pp. 5099-5108
    • Carreira, S.1    Dexter, T.J.2    Yavuzer, U.3    Easty, D.J.4    Goding, C.R.5
  • 38
    • 0034673760 scopus 로고    scopus 로고
    • Nuclear translocation and transcription regulation by the membrane-associated guanylate kinase CASK/LIN-2
    • Hsueh, Y-P, Want, T-F., Yang, F-C. and Sheng, M. (2000) Nuclear translocation and transcription regulation by the membrane-associated guanylate kinase CASK/LIN-2. Nature, 404, 298-302.
    • (2000) Nature , vol.404 , pp. 298-302
    • Hsueh, Y.-P.1    Want, T.-F.2    Yang, F.-C.3    Sheng, M.4
  • 39
    • 0035445835 scopus 로고    scopus 로고
    • Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome
    • Ghosh, T.K., Packham, E.A., Bonser, A.J., Robinson, T.E., Cross, S.J. and Brook, J.D. (2001) Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome. Hum. Mol. Genet., 10, 1983-1994.
    • (2001) Hum. Mol. Genet , vol.10 , pp. 1983-1994
    • Ghosh, T.K.1    Packham, E.A.2    Bonser, A.J.3    Robinson, T.E.4    Cross, S.J.5    Brook, J.D.6
  • 41
    • 0028806184 scopus 로고
    • Abnormal lung development and cleft palate in mice lacking TGFB3 indicates defects of epithelial-mesenchymal interaction
    • Kaartinen, V, Voncken, J.W., Shule, C., Warburton, D., Bu, D., Heisterkamp, N. and Groffen, J. (1995). Abnormal lung development and cleft palate in mice lacking TGFB3 indicates defects of epithelial-mesenchymal interaction. Nat. Genet., 11, 415-421.
    • (1995) Nat. Genet , vol.11 , pp. 415-421
    • Kaartinen, V.1    Voncken, J.W.2    Shule, C.3    Warburton, D.4    Bu, D.5    Heisterkamp, N.6    Groffen, J.7
  • 42
    • 0025287681 scopus 로고
    • Differential expression of TGF β isoforms in murine palatogenesis
    • Fitzpatrick, D.R., Denhez, F., Kondaiah, P. and Akhurst, R.J. (1990) Differential expression of TGF β isoforms in murine palatogenesis. Development, 109, 585-595.
    • (1990) Development , vol.109 , pp. 585-595
    • Fitzpatrick, D.R.1    Denhez, F.2    Kondaiah, P.3    Akhurst, R.J.4
  • 43
    • 0030953268 scopus 로고    scopus 로고
    • Transforming growth factor-B3 regulates transdifferentiation of medial edge epithelium during palatal fusion and associated degradation of the basement membrane
    • Kaartinen, V, Cui, X., Heisterkamp, N., Groffen, J. and Shuler, C.F. (1997) Transforming growth factor-B3 regulates transdifferentiation of medial edge epithelium during palatal fusion and associated degradation of the basement membrane. Dev. Dyn., 209, 255-260.
    • (1997) Dev. Dyn , vol.209 , pp. 255-260
    • Kaartinen, V.1    Cui, X.2    Heisterkamp, N.3    Groffen, J.4    Shuler, C.F.5
  • 44
    • 0031594269 scopus 로고    scopus 로고
    • TGFB3 promotes wwtransformation of chicken palate medial edge epithelium to mesenchyme in vitro
    • Sun, D., Vanderburg, C.R., Odierna, G.S. and Hay, E.D. (1998) TGFB3 promotes wwtransformation of chicken palate medial edge epithelium to mesenchyme in vitro. Development, 125, 95-105.
    • (1998) Development , vol.125 , pp. 95-105
    • Sun, D.1    Vanderburg, C.R.2    Odierna, G.S.3    Hay, E.D.4
  • 45
    • 7344251769 scopus 로고    scopus 로고
    • Immunohistochemical localization of TGFB type II receptor and TGFB3 during palatogenesis in vivo and in vitro
    • Cui, X-M., Warburton, D., Zhao, J., Crowe, D.L. and Shuler, C.F. (1998) Immunohistochemical localization of TGFB type II receptor and TGFB3 during palatogenesis in vivo and in vitro. Int. J. Dev. Biol., 42, 817-820.
    • (1998) Int. J. Dev. Biol , vol.42 , pp. 817-820
    • Cui, X-M.1    Warburton, D.2    Zhao, J.3    Crowe, D.L.4    Shuler, C.F.5
  • 46
    • 0026053972 scopus 로고
    • Differential expression of TGF β1, β2 and β3 genes during mouse membryogenesis
    • Schmid, P., Cox, D., Bilbe, G., Maier, R. and McMaster, G.K. (1991) Differential expression of TGF β1, β2 and β3 genes during mouse membryogenesis. Development, 111, 117-130.
    • (1991) Development , vol.111 , pp. 117-130
    • Schmid, P.1    Cox, D.2    Bilbe, G.3    Maier, R.4    McMaster, G.K.5
  • 47
    • 0025977578 scopus 로고
    • Embryonic gene expression patterns of TGFB1, B2 and B3 suggest different developmental functions in vivo
    • Millan, F.A., Dehhez, F., Kondaiah, P. and Akhurst, R.J. (1991) Embryonic gene expression patterns of TGFB1, B2 and B3 suggest different developmental functions in vivo. Development, 111, 131-144.
    • (1991) Development , vol.111 , pp. 131-144
    • Millan, F.A.1    Dehhez, F.2    Kondaiah, P.3    Akhurst, R.J.4
  • 48
    • 0021695259 scopus 로고
    • Epithelial-mesenchymal interactions during vertebrate palatogenesis
    • Zimmerman EF (ed.), Academic Press, New York
    • Ferguson, M.W and Honig, L.S. (1984) Epithelial-mesenchymal interactions during vertebrate palatogenesis. In: Zimmerman EF (ed.), Current Topics in Developmental Biology, Vol. 19, Academic Press, New York, pp. 137-164.
    • (1984) Current Topics in Developmental Biology , vol.19 , pp. 137-164
    • Ferguson, M.W.1    Honig, L.S.2
  • 49
    • 0024424928 scopus 로고
    • Expression of transforming growth factor β2 RNA during murine embryogenesis
    • Pelton, R.W., Nomura, S., Moses, H.L. and Hogan, B.L. (1989) Expression of transforming growth factor β2 RNA during murine embryogenesis. Development, 106, 759-767.
    • (1989) Development , vol.106 , pp. 759-767
    • Pelton, R.W.1    Nomura, S.2    Moses, H.L.3    Hogan, B.L.4
  • 51
    • 0028292605 scopus 로고
    • Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development
    • Satokata, I. and Maas, R. (1994) Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat. Genet., 6, 348-355.
    • (1994) Nat. Genet , vol.6 , pp. 348-355
    • Satokata, I.1    Maas, R.2
  • 52
    • 0026332730 scopus 로고
    • Animal models for human craniofacial malformations
    • Johnston, M.C. and Bronsky, P.T. (1991) Animal models for human craniofacial malformations. J. Craniofac. Dev. Biol., 11, 277-291.
    • (1991) J. Craniofac. Dev. Biol , vol.11 , pp. 277-291
    • Johnston, M.C.1    Bronsky, P.T.2
  • 53
    • 0032503967 scopus 로고    scopus 로고
    • Human post-implantation embryo collection: Medical and surgical techniques
    • Bullen, P.J., Robson, S.C. and Strachan, T. (1998) Human post-implantation embryo collection: medical and surgical techniques. Early Hum. Dev., 51, 213-221.
    • (1998) Early Hum. Dev , vol.51 , pp. 213-221
    • Bullen, P.J.1    Robson, S.C.2    Strachan, T.3
  • 57
    • 0031980399 scopus 로고    scopus 로고
    • Human EGFR, a candidate for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues
    • Wakeling, E., Abu-Amero, S.N., Stanier, P., Preece, M.A. and Moore, G.E. (1998) Human EGFR, a candidate for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues. Eur. J. Hum. Genet., 6, 158-164.
    • (1998) Eur. J. Hum. Genet , vol.6 , pp. 158-164
    • Wakeling, E.1    Abu-Amero, S.N.2    Stanier, P.3    Preece, M.A.4    Moore, G.E.5
  • 58
    • 0021364584 scopus 로고
    • Structure, expression and mutation of the hypoxanthine phosphoribosyl-transferase gene
    • Melton, D.W, Konecki, D.S., Brennand, J. and Caskey, C.T. (1984) Structure, expression and mutation of the hypoxanthine phosphoribosyl-transferase gene. Proc. Natl Acad Sci. USA, 81, 2147-2151.
    • (1984) Proc. Natl Acad Sci. USA , vol.81 , pp. 2147-2151
    • Melton, D.W.1    Konecki, D.S.2    Brennand, J.3    Caskey, C.T.4
  • 59
    • 0026468291 scopus 로고
    • In situ hybridisation with digoxigenin-labeled probes: Sensitive and reliable detection method applied to myelinating rat brain
    • Breitschopf, H., Suchanek, G., Gould, R.M., Colman, D.R. and Lassmann, H. (1992) In situ hybridisation with digoxigenin-labeled probes: sensitive and reliable detection method applied to myelinating rat brain. Acta Neuropathol., 84, 581-587.
    • (1992) Acta Neuropathol , vol.84 , pp. 581-587
    • Breitschopf, H.1    Suchanek, G.2    Gould, R.M.3    Colman, D.R.4    Lassmann, H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.