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Volumn 43, Issue 2, 2006, Pages 111-118

Breakpoints around the HOXD cluster result in various limb malformations

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; APLASIA; ARTICLE; BRACHYDACTYLY; CARPAL BONE; CASE REPORT; CHROMOSOME 2; CHROMOSOME 2Q; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION; CHROMOSOME TRANSLOCATION 10; CHROMOSOME TRANSLOCATION 2; CLINICAL FEATURE; DISLOCATION; ECTOPIC ANUS; ECTOPIC ORGAN; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HOX GENE; HUMAN; HYPOPLASIA; LIMB MALFORMATION; MALE; MENTAL DEFICIENCY; NEWBORN; NUCLEOTIDE SEQUENCE; PERICENTRIC CHROMOSOME INVERSION; PRIORITY JOURNAL; RADIUS; SCOLIOSIS; SYNDACTYLY; ULNA;

EID: 32944464214     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.033555     Document Type: Article
Times cited : (45)

References (56)
  • 1
    • 0033662329 scopus 로고    scopus 로고
    • Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation
    • Thompson AA, Nguyen LT. Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nat Genet 2000;26:397-8.
    • (2000) Nat Genet , vol.26 , pp. 397-398
    • Thompson, A.A.1    Nguyen, L.T.2
  • 2
    • 0031050961 scopus 로고    scopus 로고
    • Mutation of HOXA13 in hand-foot-genital syndrome
    • Mortlock DP, Innis JW. Mutation of HOXA13 in hand-foot-genital syndrome. Nat Genet 1997;15:179-80.
    • (1997) Nat Genet , vol.15 , pp. 179-180
    • Mortlock, D.P.1    Innis, J.W.2
  • 5
    • 0029871929 scopus 로고    scopus 로고
    • Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
    • Muragaki Y, Mundlos S, Upton J, Olsen BR. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 1996;272:548-51.
    • (1996) Science , vol.272 , pp. 548-551
    • Muragaki, Y.1    Mundlos, S.2    Upton, J.3    Olsen, B.R.4
  • 6
    • 0030035153 scopus 로고    scopus 로고
    • Genomic structure of HOXD13 gene: A nine polyalanine duplication causes synpolydactyly in two unrelated tamilies
    • Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M. Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated tamilies. Hum Mol Genet 1996;5:945-52.
    • (1996) Hum Mol Genet , vol.5 , pp. 945-952
    • Akarsu, A.N.1    Stoilov, I.2    Yilmaz, E.3    Sayli, B.S.4    Sarfarazi, M.5
  • 10
    • 0036848639 scopus 로고    scopus 로고
    • Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13
    • Debeer P, Bacchelli C, Scambler PJ, De Smet L, Fryns JP, Goodman FR. Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13. J Med Genet 2002;39:852-6.
    • (2002) J Med Genet , vol.39 , pp. 852-856
    • Debeer, P.1    Bacchelli, C.2    Scambler, P.J.3    De Smet, L.4    Fryns, J.P.5    Goodman, F.R.6
  • 11
    • 0001676085 scopus 로고    scopus 로고
    • A new mutation in HOXD13 homeodomain causes a novel human limb malformation by producing selective loss of function
    • Calabrese O, Bigoni S, Gualandi F, Trabanelli C, Camera G, Calzolari E. A new mutation in HOXD13 homeodomain causes a novel human limb malformation by producing selective loss of function. Eur J Hum Genet 2000;8(Suppl 1):140.
    • (2000) Eur J Hum Genet , vol.8 , Issue.SUPPL. 1 , pp. 140
    • Calabrese, O.1    Bigoni, S.2    Gualandi, F.3    Trabanelli, C.4    Camera, G.5    Calzolari, E.6
  • 12
    • 0041321415 scopus 로고    scopus 로고
    • An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations
    • Kan SH, Johnson D, Giele H, Wilkie AO. An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations. Am J Med Genet 2003;121A:69-74.
    • (2003) Am J Med Genet , vol.121 A , pp. 69-74
    • Kan, S.H.1    Johnson, D.2    Giele, H.3    Wilkie, A.O.4
  • 13
    • 0012800807 scopus 로고    scopus 로고
    • An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function
    • Caronia G, Goodman FR, McKeown CM, Scambler PJ, Zappavigna V. An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. Development 2003;130:1701-12.
    • (2003) Development , vol.130 , pp. 1701-1712
    • Caronia, G.1    Goodman, F.R.2    McKeown, C.M.3    Scambler, P.J.4    Zappavigna, V.5
  • 15
    • 0031004451 scopus 로고    scopus 로고
    • Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: Cytogenetic and molecular investigation
    • Nixon J, Oldridge M, Wilkie AO, Smith K. Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: cytogenetic and molecular investigation. Am J Med Genet 1997;70:324-7.
    • (1997) Am J Med Genet , vol.70 , pp. 324-327
    • Nixon, J.1    Oldridge, M.2    Wilkie, A.O.3    Smith, K.4
  • 17
    • 0037108033 scopus 로고    scopus 로고
    • Limb malformations and the human HOX genes
    • Goodman FR. Limb malformations and the human HOX genes. Am J Med Genet 2002;112:256-65.
    • (2002) Am J Med Genet , vol.112 , pp. 256-265
    • Goodman, F.R.1
  • 19
    • 0036158262 scopus 로고    scopus 로고
    • A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
    • Goodman FR, Majewski F, Collins AL, Scambler PJ. A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. Am J Hum Genet 2002;70:547-55.
    • (2002) Am J Hum Genet , vol.70 , pp. 547-555
    • Goodman, F.R.1    Majewski, F.2    Collins, A.L.3    Scambler, P.J.4
  • 20
  • 22
    • 0347683479 scopus 로고    scopus 로고
    • A novel human cytochrome P450, CYP26C1, involved in metabolism of 9-cis and all-trans isomers of retinoic acid
    • Taimi M, Helvig C, Wisniewski J, Ramshaw H, White J, Amad M, Korczak B, Petkovich M. A novel human cytochrome P450, CYP26C1, involved in metabolism of 9-cis and all-trans isomers of retinoic acid. J Biol Chem 2004;279:77-85.
    • (2004) J Biol Chem , vol.279 , pp. 77-85
    • Taimi, M.1    Helvig, C.2    Wisniewski, J.3    Ramshaw, H.4    White, J.5    Amad, M.6    Korczak, B.7    Petkovich, M.8
  • 23
    • 0030746211 scopus 로고    scopus 로고
    • cDNA cloning of human retinoic acid-metabolizing enzyme (hP450RAI) identifies a novel family of cytochromes P450
    • White JA, Beckett-Jones B, Guo YD, Dilworth FJ, Bonasoro J, Jones G, Petkovich M. cDNA cloning of human retinoic acid-metabolizing enzyme (hP450RAI) identifies a novel family of cytochromes P450. J Biol Chem 1997;272:18538-41.
    • (1997) J Biol Chem , vol.272 , pp. 18538-18541
    • White, J.A.1    Beckett-Jones, B.2    Guo, Y.D.3    Dilworth, F.J.4    Bonasoro, J.5    Jones, G.6    Petkovich, M.7
  • 24
    • 0035862976 scopus 로고    scopus 로고
    • The retinoic acid-inactivating enzyme CYP26 is essential for establishing an uneven distribution of retinoic acid along the anterio-posterior axis within the mouse embryo
    • Sakai Y, Meno C, Fujii H, Nishino J, Shiratori H, Saijoh Y, Rossant J, Hamada H. The retinoic acid-inactivating enzyme CYP26 is essential for establishing an uneven distribution of retinoic acid along the anterio-posterior axis within the mouse embryo. Genes Dev 2001;15:213-25.
    • (2001) Genes Dev , vol.15 , pp. 213-225
    • Sakai, Y.1    Meno, C.2    Fujii, H.3    Nishino, J.4    Shiratori, H.5    Saijoh, Y.6    Rossant, J.7    Hamada, H.8
  • 25
    • 0029963585 scopus 로고    scopus 로고
    • A mutational analysis of the 5′ HoxD genes: Dissection of genetic interactions during limb development in the mouse
    • Davis AP, Capecchi MR. A mutational analysis of the 5′ HoxD genes: dissection of genetic interactions during limb development in the mouse. Development 1996;122:1175-85.
    • (1996) Development , vol.122 , pp. 1175-1185
    • Davis, A.P.1    Capecchi, M.R.2
  • 26
    • 0027358721 scopus 로고
    • Disruption of the Hoxd-13 gene induces localized heterochrony leading to mice with neotenic limbs
    • Dolle P, Dierich A, LeMeur M, Schimmang T, Schuhbaur B, Chambon P, Duboule D. Disruption of the Hoxd-13 gene induces localized heterochrony leading to mice with neotenic limbs. Cell 1993;75:431-41.
    • (1993) Cell , vol.75 , pp. 431-441
    • Dolle, P.1    Dierich, A.2    Lemeur, M.3    Schimmang, T.4    Schuhbaur, B.5    Chambon, P.6    Duboule, D.7
  • 27
    • 0031833055 scopus 로고    scopus 로고
    • A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly
    • Johnson KR, Sweet HO, Donahue LR, Ward-Bailey P, Bronson RT, Davisson MT. A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly. Hum Mol Genet 1998;7:1033-8.
    • (1998) Hum Mol Genet , vol.7 , pp. 1033-1038
    • Johnson, K.R.1    Sweet, H.O.2    Donahue, L.R.3    Ward-Bailey, P.4    Bronson, R.T.5    Davisson, M.T.6
  • 28
    • 0029854152 scopus 로고    scopus 로고
    • Synpolydactyly in mice with a targeted deficiency in the HoxD complex
    • Zakany J, Duboule D. Synpolydactyly in mice with a targeted deficiency in the HoxD complex. Nature 1996;384:69-71.
    • (1996) Nature , vol.384 , pp. 69-71
    • Zakany, J.1    Duboule, D.2
  • 29
    • 0032902095 scopus 로고    scopus 로고
    • Hox genes in digit development and evolution
    • Zakany J, Duboule D. Hox genes in digit development and evolution. Cell Tissue Res 1999;296:19-25.
    • (1999) Cell Tissue Res , vol.296 , pp. 19-25
    • Zakany, J.1    Duboule, D.2
  • 30
    • 0031663782 scopus 로고    scopus 로고
    • Position effect in human genetic disease
    • Kleinjan DJ, van Heyningen V. Position effect in human genetic disease. Hum Mol Genet 1998;7:1611-8.
    • (1998) Hum Mol Genet , vol.7 , pp. 1611-1618
    • Kleinjan, D.J.1    Van Heyningen, V.2
  • 31
    • 11144339384 scopus 로고    scopus 로고
    • Long-range control of gene expression: Emerging mechanisms and disruption in disease
    • Kleinjan DA, van Heyningen V. Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet 2005;76:8-32.
    • (2005) Am J Hum Genet , vol.76 , pp. 8-32
    • Kleinjan, D.A.1    Van Heyningen, V.2
  • 32
    • 0040585739 scopus 로고    scopus 로고
    • A molecular approach to the evolution of vertebrate paired appendages
    • Sordino P, Duboule D. A molecular approach to the evolution of vertebrate paired appendages. Trends Ecol Evol 1996;11:114-19.
    • (1996) Trends Ecol Evol , vol.11 , pp. 114-119
    • Sordino, P.1    Duboule, D.2
  • 33
    • 0030782384 scopus 로고    scopus 로고
    • The mouse Ulnaless mutation deregulates posterior HoxD gene expression and alters appendicular patterning
    • Peichel CL, Prabhakaran B, Vogt TF. The mouse Ulnaless mutation deregulates posterior HoxD gene expression and alters appendicular patterning. Development 1997;124:3481-92.
    • (1997) Development , vol.124 , pp. 3481-3492
    • Peichel, C.L.1    Prabhakaran, B.2    Vogt, T.F.3
  • 34
    • 0037079049 scopus 로고    scopus 로고
    • Serial deletions and duplications suggest a mechanism for the collinearity of Hoxd genes in limbs
    • Kmita M, Fraudeau N, Herault Y, Duboule D. Serial deletions and duplications suggest a mechanism for the collinearity of Hoxd genes in limbs. Nature 2002;420:145-50.
    • (2002) Nature , vol.420 , pp. 145-150
    • Kmita, M.1    Fraudeau, N.2    Herault, Y.3    Duboule, D.4
  • 35
    • 0033617267 scopus 로고    scopus 로고
    • Breaking colinearity in the mouse HoxD complex
    • Kondo T, Duboule D. Breaking colinearity in the mouse HoxD complex. Cell 1999;97:407-17.
    • (1999) Cell , vol.97 , pp. 407-417
    • Kondo, T.1    Duboule, D.2
  • 36
    • 0035448880 scopus 로고    scopus 로고
    • Large scale transgenic and cluster deletion analysis of the HoxD complex separate an ancestral regulatory module from evolutionary innovations
    • Spitz F, Gonzalez F, Peichel C, Vogt TF, Duboule D, Zakany J. Large scale transgenic and cluster deletion analysis of the HoxD complex separate an ancestral regulatory module from evolutionary innovations. Genes Dev 2001;15:2209-14.
    • (2001) Genes Dev , vol.15 , pp. 2209-2214
    • Spitz, F.1    Gonzalez, F.2    Peichel, C.3    Vogt, T.F.4    Duboule, D.5    Zakany, J.6
  • 37
    • 0038613098 scopus 로고    scopus 로고
    • A global control region defines a chromosomal regulatory landscape containing the HoxD cluster
    • Spitz F, Gonzalez F, Duboule D. A global control region defines a chromosomal regulatory landscape containing the HoxD cluster. Cell 2003;113:405-17.
    • (2003) Cell , vol.113 , pp. 405-417
    • Spitz, F.1    Gonzalez, F.2    Duboule, D.3
  • 38
    • 0027131262 scopus 로고
    • Homeotic transformations and limb defects in Hox A11 mutant mice
    • Small KM, Potter SS. Homeotic transformations and limb defects in Hox A11 mutant mice. Genes Dev 1993;7:2318-28.
    • (1993) Genes Dev , vol.7 , pp. 2318-2328
    • Small, K.M.1    Potter, S.S.2
  • 39
    • 0028085623 scopus 로고
    • Axial homeosis and appendicular skeleton defects in mice with a targeted disruption of hoxd-11
    • Davis AP, Capecchi MR. Axial homeosis and appendicular skeleton defects in mice with a targeted disruption of hoxd-11. Development 1994;120:2187-98.
    • (1994) Development , vol.120 , pp. 2187-2198
    • Davis, A.P.1    Capecchi, M.R.2
  • 40
    • 0028921493 scopus 로고
    • Axial skeleton homeosis and forelimb malformations in Hoxd-11 mutant mice
    • Favier B, Le Meur M, Chambon P, Dolle P. Axial skeleton homeosis and forelimb malformations in Hoxd-11 mutant mice. Proc Natl Acad Sci U S A 1995;92:310-4.
    • (1995) Proc Natl Acad Sci U S A , vol.92 , pp. 310-314
    • Favier, B.1    Le Meur, M.2    Chambon, P.3    Dolle, P.4
  • 42
    • 0842344616 scopus 로고    scopus 로고
    • Multiple roles of Hoxa11 and Hoxd11 in the formation of the mammalian forelimb zeugopod
    • Boulet AM, Capecchi MR. Multiple roles of Hoxa11 and Hoxd11 in the formation of the mammalian forelimb zeugopod. Development 2004;131:299-309.
    • (2004) Development , vol.131 , pp. 299-309
    • Boulet, A.M.1    Capecchi, M.R.2
  • 43
    • 0035281736 scopus 로고    scopus 로고
    • The paralogous Hox genes Hoxa10 and Hoxd10 interact to pattern the mouse hindlimb peripheral nervous system and skeleton
    • Wahba GM, Hostikka SL, Carpenter EM. The paralogous Hox genes Hoxa10 and Hoxd10 interact to pattern the mouse hindlimb peripheral nervous system and skeleton. Dev Biol 2001;231:87-102.
    • (2001) Dev Biol , vol.231 , pp. 87-102
    • Wahba, G.M.1    Hostikka, S.L.2    Carpenter, E.M.3
  • 44
    • 0030019608 scopus 로고    scopus 로고
    • Functional cooperation between the non-paralogous genes Hoxa-10 and Hoxd-11 in the developing forelimb and axial skeleton
    • Favier B, Rijli FM, Fromental-Ramain C, Fraulob V, Chambon P, Dolle P. Functional cooperation between the non-paralogous genes Hoxa-10 and Hoxd-11 in the developing forelimb and axial skeleton. Development 1996;122:449-60.
    • (1996) Development , vol.122 , pp. 449-460
    • Favier, B.1    Rijli, F.M.2    Fromental-Ramain, C.3    Fraulob, V.4    Chambon, P.5    Dolle, P.6
  • 45
    • 1842290333 scopus 로고    scopus 로고
    • Ulnaless (Ul), a regulatory mutation inducing both loss-of-function and gain-of-function of posterior Hoxd genes
    • Herault Y, Fraudeau N, Zakany J, Duboule D. Ulnaless (Ul), a regulatory mutation inducing both loss-of-function and gain-of-function of posterior Hoxd genes. Development 1997;124:3493-500.
    • (1997) Development , vol.124 , pp. 3493-3500
    • Herault, Y.1    Fraudeau, N.2    Zakany, J.3    Duboule, D.4
  • 46
    • 2942694533 scopus 로고    scopus 로고
    • A dual role for Hox genes in limb anterior-posterior asymmetry
    • Zakany J, Kmita M, Duboule D. A dual role for Hox genes in limb anterior-posterior asymmetry. Science 2004;304:1669-72.
    • (2004) Science , vol.304 , pp. 1669-1672
    • Zakany, J.1    Kmita, M.2    Duboule, D.3
  • 47
    • 0029065737 scopus 로고
    • Locking in stable states of gene expression: Transcriptional control during Drosophila development
    • Simon J. Locking in stable states of gene expression: transcriptional control during Drosophila development. Curr Opin Cell Biol 1995;7:376-85.
    • (1995) Curr Opin Cell Biol , vol.7 , pp. 376-385
    • Simon, J.1
  • 48
    • 0030945893 scopus 로고    scopus 로고
    • Murine Polycomb- and trithorax-group genes regulate homeotic pathways and beyond
    • Schumacher A, Magnuson T. Murine Polycomb- and trithorax-group genes regulate homeotic pathways and beyond. Trends Genet 1997;13:167-70.
    • (1997) Trends Genet , vol.13 , pp. 167-170
    • Schumacher, A.1    Magnuson, T.2
  • 49
    • 0034123470 scopus 로고    scopus 로고
    • Plzf regulates limb and axial skeletal patterning
    • Barna M, Hawe N, Niswander L, Pandolfi PP. Plzf regulates limb and axial skeletal patterning. Nat Genet 2000;25:166-72.
    • (2000) Nat Genet , vol.25 , pp. 166-172
    • Barna, M.1    Hawe, N.2    Niswander, L.3    Pandolfi, P.P.4
  • 51
    • 3342979659 scopus 로고    scopus 로고
    • Recruitment of the NuA4 complex poises the PHO5 promoter for chromatin remodeling and activation
    • Nourani A, Utley RT, Allard S, Cote J. Recruitment of the NuA4 complex poises the PHO5 promoter for chromatin remodeling and activation. EMBO J 2004;23:2597-607.
    • (2004) EMBO J , vol.23 , pp. 2597-2607
    • Nourani, A.1    Utley, R.T.2    Allard, S.3    Cote, J.4
  • 52
    • 0026727120 scopus 로고
    • Chromatin structure and transcription
    • Kornberg RD, Lorch Y. Chromatin structure and transcription. Annu Rev Cell Biol 1992;8:563-87.
    • (1992) Annu Rev Cell Biol , vol.8 , pp. 563-587
    • Kornberg, R.D.1    Lorch, Y.2
  • 54
    • 0345227304 scopus 로고    scopus 로고
    • Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q
    • Jiang G, Yang F, van Overveld PG, Vedanarayanan V, van der Maarel S, Ehrlich M. Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. Hum Mol Genet 2003;12:2909-21.
    • (2003) Hum Mol Genet , vol.12 , pp. 2909-2921
    • Jiang, G.1    Yang, F.2    Van Overveld, P.G.3    Vedanarayanan, V.4    Van Der Maarel, S.5    Ehrlich, M.6


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