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Volumn 25, Issue 5, 2011, Pages 1596-1605

The pleiotropic mouse phenotype extra-toes spotting is caused by translation initiation factor Eif3c mutations and is associated with disrupted sonic hedgehog signaling

Author keywords

Development; GLI3 processing; Polydactyly; Positional cloning

Indexed keywords

GENOMIC DNA; INITIATION FACTOR; SONIC HEDGEHOG PROTEIN; TRANSLATION INITIATION FACTOR EIF3C; UNCLASSIFIED DRUG;

EID: 79955645726     PISSN: 08926638     EISSN: 15306860     Source Type: Journal    
DOI: 10.1096/fj.10-169771     Document Type: Article
Times cited : (11)

References (37)
  • 1
    • 0242415318 scopus 로고
    • Extra-toes spotting, a new polydactyly mutation
    • Lyon, M. (1989) Extra-toes spotting, a new polydactyly mutation. Mouse News Letter 83, 158-159
    • (1989) Mouse News Letter , vol.83 , pp. 158-159
    • Lyon, M.1
  • 3
    • 0027478216 scopus 로고
    • A mouse model of Greig cephalopolysyndactyly syndrome: The extra-toesJ mutation contains an intragenic deletion of the Gli3 gene
    • Hui, C.-C., and Joyner, A. (1993) A mouse model of Greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene. Nat. Genet. 3, 241-246
    • (1993) Nat. Genet. , vol.3 , pp. 241-246
    • Hui, C.-C.1    Joyner, A.2
  • 4
    • 0036134643 scopus 로고    scopus 로고
    • J reveals a 51.5-kb deletion
    • DOI 10.1007/s00335-001-2115-X
    • Maynard, T., Jain, M., Balmer, C., and LaMantia, A. (2002) High-resolution mapping of the Gli3 mutation extra-toes reveals a 51.5 kb deletion. Mamm. Genome 13, 58-61 (Pubitemid 34008427)
    • (2002) Mammalian Genome , vol.13 , Issue.1 , pp. 58-61
    • Maynard, T.M.1    Jain, M.D.2    Balmer, C.W.3    LaMantia, A.-S.4
  • 5
    • 0026469401 scopus 로고
    • Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt)
    • Vortkamp, A., Franz, T., Gessler, M., and Grzeschik, K.-H. (1992) Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt). Mamm. Genome 3, 461-463
    • (1992) Mamm. Genome , vol.3 , pp. 461-463
    • Vortkamp, A.1    Franz, T.2    Gessler, M.3    Grzeschik, K.-H.4
  • 6
    • 0024243968 scopus 로고
    • Greig cephalopolysyndactyly syndrome: A possible mouse homologue (Xt-extra toes)
    • Winter, R. M., and Huson, S. M. (1988) Greig cephalopolysyndactyly syndrome: a possible mouse homologue (Xt-extra toes). Am. J. Med. Genet. 31, 793-798
    • (1988) Am. J. Med. Genet. , vol.31 , pp. 793-798
    • Winter, R.M.1    Huson, S.M.2
  • 7
    • 0014097059 scopus 로고
    • Extra-toes: A new mutant gene causing multiple abnormalities in the mouse
    • Johnson, D. R. (1967) Extra-toes: a new mutant gene causing multiple abnormalities in the mouse. J. Embryol. Exp. Morphol. 17, 543-581
    • (1967) J. Embryol. Exp. Morphol. , vol.17 , pp. 543-581
    • Johnson, D.R.1
  • 8
    • 0033583035 scopus 로고    scopus 로고
    • Sonic hedgehog-induced activation of the Gli1 promoter is mediated by GLI3
    • Dai, P., Akimaru, H., Tanaka, Y., Maekawa, T., Nakafuku, M., and Ishii, S. (1999) Sonic hedgehog-induced activation of the Gli1 promoter is mediated by GLI3. J. Biol. Chem. 274, 8143-8152
    • (1999) J. Biol. Chem. , vol.274 , pp. 8143-8152
    • Dai, P.1    Akimaru, H.2    Tanaka, Y.3    Maekawa, T.4    Nakafuku, M.5    Ishii, S.6
  • 9
    • 0001466654 scopus 로고    scopus 로고
    • GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization
    • Shin, S., Kogerman, P., Lindström, E., Toftgárd, R., and Biesecker, L. (1999) GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization. Proc. Natl. Acad. Sci. U. S. A. 96, 2880-2884
    • (1999) Proc. Natl. Acad. Sci. U. S. A. , vol.96 , pp. 2880-2884
    • Shin, S.1    Kogerman, P.2    Lindström, E.3    Toftgárd, R.4    Biesecker, L.5
  • 10
    • 0035577854 scopus 로고    scopus 로고
    • Hedgehog signaling in animal development: Paradigms and principles
    • DOI 10.1101/gad.938601
    • Ingham, P. W., and McMahon, A. P. (2001) Hedgehog signaling in animal development: paradigms and principles. Genes Dev. 15, 3059-3087 (Pubitemid 33115673)
    • (2001) Genes and Development , vol.15 , Issue.23 , pp. 3059-3087
    • Ingham, P.W.1    McMahon, A.P.2
  • 11
    • 0035710746 scopus 로고    scopus 로고
    • Analysis of relative gene expression data using real-time quantitative PCR and the 2[-delta delta C(T)] method
    • Livak, K. J., and Schmittgen, T. D. (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2[-delta delta C(T)] method. Methods 25, 402-408
    • (2001) Methods , vol.25 , pp. 402-408
    • Livak, K.J.1    Schmittgen, T.D.2
  • 13
    • 3042756178 scopus 로고    scopus 로고
    • Direct interaction with Hoxd protein reverses Gli3-repressor function to promote digit formation downstream of Shh
    • DOI 10.1242/dev.01115
    • Chen, Y., Knezevic, V., Ervin, V., Hutson, R., Ward, Y., and Mackem, S. (2004) Direct interaction with Hoxd proteins reverses Gli3-repressor function to promote digit formation downstream of Shh. Development 131, 2339-2347 (Pubitemid 38877642)
    • (2004) Development , vol.131 , Issue.10 , pp. 2339-2347
    • Chen, Y.1    Knezevic, V.2    Ervin, V.3    Hutson, R.4    Ward, Y.5    Mackem, S.6
  • 15
    • 0028149891 scopus 로고
    • A positive feedback loop coordinates growth and patterning in the vertebrate limb
    • DOI 10.1038/371609a0
    • Niswander, L., Jeffrey, S., Martin, G. R., and Tickle, C. (1994) A positive feedback loop coordinates growth and patterning in the vertebrate limb. Nature 371, 609-612 (Pubitemid 24315742)
    • (1994) Nature , vol.371 , Issue.6498 , pp. 609-612
    • Nlswander, L.1    Jeffrey, S.2    Martin, G.R.3    Tickle, C.4
  • 16
    • 0027760995 scopus 로고
    • Sonic hedgehog mediates the polarizing activity of the ZPA
    • DOI 10.1016/0092-8674(93)90626-2
    • Riddle, R. D., Johnson, R. L., Laufer, E., and Tabin, C. (1993) Sonic hedgehog mediates the polarizing activity of the ZPA. Cell 75, 1401-1416 (Pubitemid 24021914)
    • (1993) Cell , vol.75 , Issue.7 , pp. 1401-1416
    • Riddle, R.D.1    Johnson, R.L.2    Laufer, E.3    Tabin, C.4
  • 17
    • 0029948270 scopus 로고    scopus 로고
    • Biochemical evidence that patched is the hedgehog receptor
    • DOI 10.1038/384176a0
    • Marigo, V., Davey, R. A., Zuo, Y., Cunningham, J. M., and Tabin, C. J. (1996) Biochemical evidence that patched is the hedgehog receptor. Nature 384, 176-179 (Pubitemid 26386474)
    • (1996) Nature , vol.384 , Issue.6605 , pp. 176-179
    • Marigo, V.1    Davey, R.A.2    Zuo, Y.3    Cunningham, J.M.4    Tabin, C.J.5
  • 18
    • 0029843937 scopus 로고    scopus 로고
    • Regulation of patched by sonic hedgehog in the developing neural tube
    • Marigo, V., and Tabin, C. J. (1996) Regulation of patched by sonic hedgehog in the developing neural tube. Proc. Natl. Acad. Sci. U. S. A. 93, 9346-9351
    • (1996) Proc. Natl. Acad. Sci. U. S. A. , vol.93 , pp. 9346-9351
    • Marigo, V.1    Tabin, C.J.2
  • 19
    • 0030027059 scopus 로고    scopus 로고
    • Conservation of the hedgehog/patched signaling pathway from flies to mice: Induction of a mouse patched gene by Hedgehog
    • Goodrich, L. V., Johnson, R. L., Milenkovic, L., McMahon, J. A., and Scott, M. P. (1996) Conservation of the hedgehog/patched signaling pathway from flies to mice: induction of a mouse patched gene by hedgehog. Genes Dev. 10, 301-312 (Pubitemid 26058963)
    • (1996) Genes and Development , vol.10 , Issue.3 , pp. 301-312
    • Goodrich, L.V.1    Johnson, R.L.2    Milenkovic, L.3    McMahon, J.A.4    Scott, M.P.5
  • 20
    • 0036059099 scopus 로고    scopus 로고
    • Twist plays an essential role in FGF and SHH signal transduction during mouse limb development
    • O'Rourke, M. P., Soo, K., Behringer, R. R., Hui, C. C., and Tam, P. P. (2002) Twist plays an essential role in FGF and SHH signal transduction during mouse limb development. Dev. Biol. 248, 143-156
    • (2002) Dev. Biol. , vol.248 , pp. 143-156
    • O'Rourke, M.P.1    Soo, K.2    Behringer, R.R.3    Hui, C.C.4    Tam, P.P.5
  • 21
    • 0031696178 scopus 로고    scopus 로고
    • Evidence that preaxial polydactyly in the Doublefoot mutant is due to ectopic Indian Hedgehog signaling
    • Yang, Y., Guillot, P., Boyd, Y., Lyon, M. F., and McMahon, A. P. (1998) Evidence that preaxial polydactyly in the Doublefoot mutant is due to ectopic Indian hedgehog signaling. Development 125, 3123-3132 (Pubitemid 28434411)
    • (1998) Development , vol.125 , Issue.16 , pp. 3123-3132
    • Yang, Y.1    Guillot, P.2    Boyd, Y.3    Lyon, M.F.4    McMahon, A.P.5
  • 22
    • 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. (1996) Sonic hedgehog differentially regulates expression of GLI and GLI3 during limb development. Dev. Biol. 180, 273-283
    • (1996) Dev. Biol. , vol.180 , pp. 273-283
    • Marigo, V.1    Johnson, R.L.2    Vortkamp, A.3    Tabin, C.J.4
  • 23
    • 0036434131 scopus 로고    scopus 로고
    • Mouse GLI3 regulates Fgf8 expression and apoptosis in the developing neural tube, face, and limb bud
    • Aoto, K., Nishimura, T., Eto, K., and Motoyama, J. (2002) Mouse GLI3 regulates Fgf8 expression and apoptosis in the developing neural tube, face, and limb bud. Dev. Biol. 251, 320-332
    • (2002) Dev. Biol. , vol.251 , pp. 320-332
    • Aoto, K.1    Nishimura, T.2    Eto, K.3    Motoyama, J.4
  • 24
    • 0040976312 scopus 로고    scopus 로고
    • Evidence for genetic control of sonic hedgehog by Gli3 in mouse limb development
    • Buscher, D., Bosse, B., Heymer, J., and Rüther, U. (1997) Evidence for genetic control of sonic hedgehog by Gli3 in mouse limb development. Mech. Dev. 62, 175-182
    • (1997) Mech. Dev. , vol.62 , pp. 175-182
    • Buscher, D.1    Bosse, B.2    Heymer, J.3    Rüther, U.4
  • 25
    • 2942694533 scopus 로고    scopus 로고
    • A dual role for Hox genes in limb anterior-posterior asymmetry
    • DOI 10.1126/science.1096049
    • Zakany, J., Kmita, M., and Duboule, D. (2004) A dual role for Hox genes in limb anterior-posterior asymmetry. Science 304, 1669-1672 (Pubitemid 38765858)
    • (2004) Science , vol.304 , Issue.5677 , pp. 1669-1672
    • Zakany, J.1    Kmita, M.2    Duboule, D.3
  • 26
    • 0032943983 scopus 로고    scopus 로고
    • Do 5 Hoxd genes play a role in initiating or maintaining A-P polarizing signals in the limb?
    • Mackem, S., and Knezevic, V. (1999) Do 5 Hoxd genes play a role in initiating or maintaining A-P polarizing signals in the limb? Cell Tissue Res. 296, 27-31
    • (1999) Cell Tissue Res , vol.296 , pp. 27-31
    • Mackem, S.1    Knezevic, V.2
  • 27
    • 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. (1994) 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, 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
  • 28
    • 0037743636 scopus 로고    scopus 로고
    • Gremlin is the BMP antagonist required for maintenance of Shh and Fgf signals during limb patterning
    • Khokha, M. K., Hsu, D., Brunet, L. J., Dionne, M. S., and Harland, R. M. (2003) Gremlin is the BMP antagonist required for maintenance of Shh and Fgf signals during limb patterning. Nat. Genet. 34, 303-307
    • (2003) Nat. Genet. , vol.34 , pp. 303-307
    • Khokha, M.K.1    Hsu, D.2    Brunet, L.J.3    Dionne, M.S.4    Harland, R.M.5
  • 29
    • 0029117749 scopus 로고
    • A duplicated zone of polarizing activity in polydactylous mouse mutants
    • Masuya, H., Sagai, T., Wakana, S., Moriwaki, K., and Shiroishi, T. (1995) A duplicated zone of polarizing activity in polydactylous mouse mutants. Genes Dev. 9, 1645-1653
    • (1995) Genes Dev. , vol.9 , pp. 1645-1653
    • Masuya, H.1    Sagai, T.2    Wakana, S.3    Moriwaki, K.4    Shiroishi, T.5
  • 30
    • 33748924333 scopus 로고    scopus 로고
    • eIF3: A versatile scaffold for translation initiation complexes
    • Hinnebusch, A. G. (2006) eIF3: a versatile scaffold for translation initiation complexes. Trends Biochem. Sci. 31, 553-562
    • (2006) Trends Biochem. Sci. , vol.31 , pp. 553-562
    • Hinnebusch, A.G.1
  • 31
    • 34547178178 scopus 로고    scopus 로고
    • Reconstitution reveals the functional core of mammalian eIF3
    • DOI 10.1038/sj.emboj.7601765, PII 7601765
    • Masutani, M., Sonenberg, N., Yokoyama, S., and Imataka, H. (2007) Reconstitution reveals the functional core of mammalian eIF3. EMBO J. 26, 3373-3383 (Pubitemid 47123530)
    • (2007) EMBO Journal , vol.26 , Issue.14 , pp. 3373-3383
    • Masutani, M.1    Sonenberg, N.2    Yokoyama, S.3    Imataka, H.4
  • 32
    • 0036846237 scopus 로고    scopus 로고
    • Direct eIF2-eIF3 contact in the multifactor complex is important for translation initiation in vivo
    • Valasek, L., Nielsen, K. H., and Hinnebusch, A. G. (2002) Direct eIF2-eIF3 contact in the multifactor complex is important for translation initiation in vivo. EMBO J. 21, 5886-5898
    • (2002) EMBO J. , vol.21 , pp. 5886-5898
    • Valasek, L.1    Nielsen, K.H.2    Hinnebusch, A.G.3
  • 33
    • 0037444342 scopus 로고    scopus 로고
    • The yeast eIF3 subunits TIF32/a, NIP1/c, and eIF5 make critical connections with the 40S ribosome in vivo
    • Valasek, L., Mathew, A. A., Shin, B. S., Nielsen, K. H., Szamecz, B., and Hinnebusch, A. G. (2003) The yeast eIF3 subunits TIF32/a, NIP1/c, and eIF5 make critical connections with the 40S ribosome in vivo. Genes Dev. 17, 786-799
    • (2003) Genes Dev. , vol.17 , pp. 786-799
    • Valasek, L.1    Mathew, A.A.2    Shin, B.S.3    Nielsen, K.H.4    Szamecz, B.5    Hinnebusch, A.G.6
  • 34
    • 0036629076 scopus 로고    scopus 로고
    • The molecular foundations of the maternal to zygotic transition in the preimplantation embryo
    • Schultz, R. M. (2002) The molecular foundations of the maternal to zygotic transition in the preimplantation embryo. Hum. Reprod. Update 8, 323-331
    • (2002) Hum. Reprod. Update , vol.8 , pp. 323-331
    • Schultz, R.M.1
  • 36
    • 4544271480 scopus 로고    scopus 로고
    • Ribosomal protein L24 defect in belly spot and tail (Bst), a mouse minute
    • Oliver, E. R., Saunders, T. L., Tarle, S. A., and Glaser, T. (2004) Ribosomal protein L24 defect in belly spot and tail (Bst), a mouse minute. Development 131, 3907-3920
    • (2004) Development , vol.131 , pp. 3907-3920
    • Oliver, E.R.1    Saunders, T.L.2    Tarle, S.A.3    Glaser, T.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.