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Volumn 55, Issue 1, 2012, Pages 1-7

Limb skeletal malformations - What the HOX is going on?

Author keywords

Chick limb; HOXD13; RCAS; Synpolydactyly

Indexed keywords

ALANINE; HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR HOXD13; UNCLASSIFIED DRUG;

EID: 84857033013     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.06.003     Document Type: Review
Times cited : (29)

References (59)
  • 2
    • 38349181101 scopus 로고    scopus 로고
    • Synpolydactyly: clinical and molecular advances
    • Malik S., Grzeschik K.H. Synpolydactyly: clinical and molecular advances. Clin. Genet. 2008, 73:113-120.
    • (2008) Clin. Genet. , vol.73 , pp. 113-120
    • Malik, S.1    Grzeschik, K.H.2
  • 4
    • 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 P.J., De Smet L., Fryns J.P., Goodman F.R. 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, 39:852-856.
    • (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
  • 6
    • 0041321415 scopus 로고    scopus 로고
    • An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations
    • Kan S.H., Johnson D., Giele H., Wilkie A.O. An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations. Am. J. Med. Genet. A 2003, 121A:69-74.
    • (2003) Am. J. Med. Genet. A , vol.121 A , pp. 69-74
    • Kan, S.H.1    Johnson, D.2    Giele, H.3    Wilkie, A.O.4
  • 7
    • 0027953771 scopus 로고
    • Hox genes in vertebrate development
    • Krumlauf R. Hox genes in vertebrate development. Cell 1994, 78:191-201.
    • (1994) Cell , vol.78 , pp. 191-201
    • Krumlauf, R.1
  • 8
    • 0029871929 scopus 로고    scopus 로고
    • Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
    • Muragaki Y., Mundlos S., Upton J., Olsen B.R. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 1996, 272:548-551.
    • (1996) Science , vol.272 , pp. 548-551
    • Muragaki, Y.1    Mundlos, S.2    Upton, J.3    Olsen, B.R.4
  • 9
    • 0031050961 scopus 로고    scopus 로고
    • Mutation of HOXA13 in hand-foot-genital syndrome
    • Mortlock D.P., Innis J.W. Mutation of HOXA13 in hand-foot-genital syndrome. Nat. Genet. 1997, 15:179-180.
    • (1997) Nat. Genet. , vol.15 , pp. 179-180
    • Mortlock, D.P.1    Innis, J.W.2
  • 10
    • 0037108033 scopus 로고    scopus 로고
    • Limb malformations and the human HOX genes
    • Goodman F.R. Limb malformations and the human HOX genes. Am. J. Med. Genet. 2002, 112:256-265.
    • (2002) Am. J. Med. Genet. , vol.112 , pp. 256-265
    • Goodman, F.R.1
  • 12
    • 0030035153 scopus 로고    scopus 로고
    • Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families
    • Akarsu A.N., Stoilov I., Yilmaz E., Sayli B.S., Sarfarazi M. Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. Hum. Mol. Genet. 1996, 5:945-952.
    • (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
  • 13
    • 0025429220 scopus 로고
    • Synpolydactyly: unusual features and variable expression in 5 generations of an Italian family
    • Chessa R.G., Lapi E., De Bernardi A., Corti P. Synpolydactyly: unusual features and variable expression in 5 generations of an Italian family. Pediatr. Med. Chir. 1990, 12:259-263.
    • (1990) Pediatr. Med. Chir. , vol.12 , pp. 259-263
    • Chessa, R.G.1    Lapi, E.2    De Bernardi, A.3    Corti, P.4
  • 15
    • 27444443759 scopus 로고    scopus 로고
    • A 72-year-old Danish puzzle resolved-comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions
    • Kjaer K.W., Hansen L., Eiberg H., Utkus A., Skovgaard L.T., Leicht P., Opitz J.M., Tommerup N. A 72-year-old Danish puzzle resolved-comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions. Am. J. Med. Genet. A 2005, 138:328-339.
    • (2005) Am. J. Med. Genet. A , vol.138 , pp. 328-339
    • Kjaer, K.W.1    Hansen, L.2    Eiberg, H.3    Utkus, A.4    Skovgaard, L.T.5    Leicht, P.6    Opitz, J.M.7    Tommerup, N.8
  • 16
    • 0029073125 scopus 로고
    • A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data
    • Sayli B.S., Akarsu A.N., Sayli U., Akhan O., Ceylaner S., Sarfarazi M. A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data. J. Med. Genet. 1995, 32:421-434.
    • (1995) J. Med. Genet. , vol.32 , pp. 421-434
    • Sayli, B.S.1    Akarsu, A.N.2    Sayli, U.3    Akhan, O.4    Ceylaner, S.5    Sarfarazi, M.6
  • 17
    • 70350140176 scopus 로고    scopus 로고
    • Polyalanine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly
    • Wajid M., Ishii Y., Kurban M., Dua-Awereh M.B., Shimomura Y., Christiano A.M. Polyalanine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly. Clin. Genet. 2009, 76:300-302.
    • (2009) Clin. Genet. , vol.76 , pp. 300-302
    • Wajid, M.1    Ishii, Y.2    Kurban, M.3    Dua-Awereh, M.B.4    Shimomura, Y.5    Christiano, A.M.6
  • 18
    • 79952486820 scopus 로고    scopus 로고
    • Polyalanine repeat expansion mutation of the HOXD13gene in a Chinese family with unusual clinical manifestations of synpolydactyly
    • Gong L., Wang B., Wang J., Yu H., Ma X., Yang J. Polyalanine repeat expansion mutation of the HOXD13gene in a Chinese family with unusual clinical manifestations of synpolydactyly. Eur. J. Med. Genet. 2011, 54:108-111.
    • (2011) Eur. J. Med. Genet. , vol.54 , pp. 108-111
    • Gong, L.1    Wang, B.2    Wang, J.3    Yu, H.4    Ma, X.5    Yang, J.6
  • 19
    • 33749480931 scopus 로고    scopus 로고
    • Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion
    • Horsnell K., Ali M., Malik S., Wilson L., Hall C., Debeer P., Crow Y. Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion. Eur. J. Med. Genet. 2006, 49:396-401.
    • (2006) Eur. J. Med. Genet. , vol.49 , pp. 396-401
    • Horsnell, K.1    Ali, M.2    Malik, S.3    Wilson, L.4    Hall, C.5    Debeer, P.6    Crow, Y.7
  • 20
    • 0031015410 scopus 로고    scopus 로고
    • Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13
    • Warren S.T. Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13. Science 1997, 275:408-409.
    • (1997) Science , vol.275 , pp. 408-409
    • Warren, S.T.1
  • 21
    • 0029003180 scopus 로고
    • A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?
    • Akarsu A.N., Akhan O., Sayli B.S., Sayli U., Baskaya G., Sarfarazi M. A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?. J. Med. Genet. 1995, 32:435-441.
    • (1995) J. Med. Genet. , vol.32 , pp. 435-441
    • Akarsu, A.N.1    Akhan, O.2    Sayli, B.S.3    Sayli, U.4    Baskaya, G.5    Sarfarazi, M.6
  • 22
    • 0029983147 scopus 로고    scopus 로고
    • Trinucleotide repeats and long homopeptides in genes and proteins associated with nervous system disease and development
    • Karlin S., Burge C. Trinucleotide repeats and long homopeptides in genes and proteins associated with nervous system disease and development. Proc. Natl. Acad. Sci. U.S.A. 1996, 93:1560-1565.
    • (1996) Proc. Natl. Acad. Sci. U.S.A. , vol.93 , pp. 1560-1565
    • Karlin, S.1    Burge, C.2
  • 23
    • 0027256440 scopus 로고
    • Transcriptional repression by the Drosophila even-skipped protein - definition of a minimal repression domain
    • Han K.Y., Manley J.L. Transcriptional repression by the Drosophila even-skipped protein - definition of a minimal repression domain. Genes Dev. 1993, 7:491-503.
    • (1993) Genes Dev. , vol.7 , pp. 491-503
    • Han, K.Y.1    Manley, J.L.2
  • 25
    • 0035884587 scopus 로고    scopus 로고
    • The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes
    • Bruneau S., Johnson K.R., Yamamoto M., Kuroiwa A., Duboule D. The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes. Dev. Biol. 2001, 237:345-353.
    • (2001) Dev. Biol. , vol.237 , pp. 345-353
    • Bruneau, S.1    Johnson, K.R.2    Yamamoto, M.3    Kuroiwa, A.4    Duboule, D.5
  • 26
    • 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
  • 32
    • 0036158262 scopus 로고    scopus 로고
    • A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
    • Goodman F.R., Majewski F., Collins A.L., Scambler P.J. A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. Am. J. Hum. Genet. 2002, 70:547-555.
    • (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
  • 33
    • 65449134777 scopus 로고    scopus 로고
    • A novel microdeletion at chromosome 2q31.1-31.2 in a three-generation family presenting duplication of great toes with clinodactyly
    • Tsai L.P., Liao H.M., Chen Y.J., Fang J.S., Chen C.H. A novel microdeletion at chromosome 2q31.1-31.2 in a three-generation family presenting duplication of great toes with clinodactyly. Clin. Genet. 2009, 75:449-456.
    • (2009) Clin. Genet. , vol.75 , pp. 449-456
    • Tsai, L.P.1    Liao, H.M.2    Chen, Y.J.3    Fang, J.S.4    Chen, C.H.5
  • 35
    • 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 F.R., McKeown C.M., Scambler P.J., Zappavigna V. An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. Development 2003, 130:1701-1712.
    • (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
  • 36
    • 0031851485 scopus 로고    scopus 로고
    • Comparison of X-ray and NMR structures for the Antennapedia homeodomain-DNA complex
    • Fraenkel E., Pabo C.O. Comparison of X-ray and NMR structures for the Antennapedia homeodomain-DNA complex. Nat. Struct. Biol. 1998, 5:692-697.
    • (1998) Nat. Struct. Biol. , vol.5 , pp. 692-697
    • Fraenkel, E.1    Pabo, C.O.2
  • 39
    • 60549110502 scopus 로고    scopus 로고
    • A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype
    • Fantini S., Vaccari G., Brison N., Debeer P., Tylzanowski P., Zappavigna V. A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype. Hum. Mol. Genet. 2009, 18:847-860.
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 847-860
    • Fantini, S.1    Vaccari, G.2    Brison, N.3    Debeer, P.4    Tylzanowski, P.5    Zappavigna, V.6
  • 40
    • 0031833055 scopus 로고    scopus 로고
    • A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly
    • Johnson K.R., Sweet H.O., Donahue L.R., Ward-Bailey P., Bronson R.T., Davisson M.T. A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly. Hum. Mol. Genet. 1998, 7:1033-1038.
    • (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
  • 41
    • 0029963585 scopus 로고    scopus 로고
    • A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse
    • Davis A.P., Capecchi M.R. A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse. Development 1996, 122:1175-1185.
    • (1996) Development , vol.122 , pp. 1175-1185
    • Davis, A.P.1    Capecchi, M.R.2
  • 42
    • 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, 75:431-441.
    • (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
  • 43
    • 33845930917 scopus 로고    scopus 로고
    • Morphological change caused by loss of the taxon-specific polyalanine tract in Hoxd-13
    • Anan K., Yoshida N., Kataoka Y., Sato M., Ichise H., Nasu M., Ueda S. Morphological change caused by loss of the taxon-specific polyalanine tract in Hoxd-13. Mol. Biol. Evol. 2007, 24:281-287.
    • (2007) Mol. Biol. Evol. , vol.24 , pp. 281-287
    • Anan, K.1    Yoshida, N.2    Kataoka, Y.3    Sato, M.4    Ichise, H.5    Nasu, M.6    Ueda, S.7
  • 44
    • 0031043604 scopus 로고    scopus 로고
    • Analysis of Hoxd-13 and Hoxd-11 misexpression in chick limb buds reveals that Hox genes affect both bone condensation and growth
    • Goff D.J., Tabin C.J. Analysis of Hoxd-13 and Hoxd-11 misexpression in chick limb buds reveals that Hox genes affect both bone condensation and growth. Development 1997, 124:627-636.
    • (1997) Development , vol.124 , pp. 627-636
    • Goff, D.J.1    Tabin, C.J.2
  • 45
    • 0028973404 scopus 로고
    • Misexpression of Hoxa-13 induces cartilage homeotic transformation and changes cell adhesiveness in chick limb buds
    • Yokouchi Y., Nakazato S., Yamamoto M., Goto Y., Kameda T., Iba H., Kuroiwa A. Misexpression of Hoxa-13 induces cartilage homeotic transformation and changes cell adhesiveness in chick limb buds. Genes Dev. 1995, 9:2509-2522.
    • (1995) Genes Dev. , vol.9 , pp. 2509-2522
    • Yokouchi, Y.1    Nakazato, S.2    Yamamoto, M.3    Goto, Y.4    Kameda, T.5    Iba, H.6    Kuroiwa, A.7
  • 46
  • 47
    • 43149110150 scopus 로고    scopus 로고
    • Gain- and loss-of-function approaches in the chick embryo
    • Sauka-Spengler T., Barembaum M. Gain- and loss-of-function approaches in the chick embryo. Methods Cell Biol. 2008, 87:237-256.
    • (2008) Methods Cell Biol. , vol.87 , pp. 237-256
    • Sauka-Spengler, T.1    Barembaum, M.2
  • 48
    • 63849103182 scopus 로고    scopus 로고
    • The RCAS retroviral expression system in the study of skeletal development
    • Gordon C.T., Rodda F.A., Farlie P.G. The RCAS retroviral expression system in the study of skeletal development. Dev. Dyn. 2009, 238:797-811.
    • (2009) Dev. Dyn. , vol.238 , pp. 797-811
    • Gordon, C.T.1    Rodda, F.A.2    Farlie, P.G.3
  • 49
    • 1542318431 scopus 로고    scopus 로고
    • Status of transgenic chicken models for developmental biology
    • Mozdziak P.E., Petitte J.N. Status of transgenic chicken models for developmental biology. Dev. Dyn. 2004, 229:414-421.
    • (2004) Dev. Dyn. , vol.229 , pp. 414-421
    • Mozdziak, P.E.1    Petitte, J.N.2
  • 51
    • 0026326323 scopus 로고
    • The Hox-4.8 gene is localized at the 5' extremity of the Hox-4 complex and is expressed in the most posterior parts of the body during development
    • Dolle P., Izpisua-Belmonte J.C., Boncinelli E., Duboule D. The Hox-4.8 gene is localized at the 5' extremity of the Hox-4 complex and is expressed in the most posterior parts of the body during development. Mech. Dev. 1991, 36:3-13.
    • (1991) Mech. Dev. , vol.36 , pp. 3-13
    • Dolle, P.1    Izpisua-Belmonte, J.C.2    Boncinelli, E.3    Duboule, D.4
  • 53
    • 34547816223 scopus 로고    scopus 로고
    • The role of Hox genes during vertebrate limb development
    • Zakany J., Duboule D. The role of Hox genes during vertebrate limb development. Curr. Opin. Genet. Dev. 2007, 17:359-366.
    • (2007) Curr. Opin. Genet. Dev. , vol.17 , pp. 359-366
    • Zakany, J.1    Duboule, D.2
  • 54
    • 34347367472 scopus 로고    scopus 로고
    • Manipulating gene expression with replication-competent retroviruses
    • Morgan B.A., Fekete D.M. Manipulating gene expression with replication-competent retroviruses. Methods Cell Biol. 1996, 51:185-218.
    • (1996) Methods Cell Biol. , vol.51 , pp. 185-218
    • Morgan, B.A.1    Fekete, D.M.2
  • 55
    • 0031696610 scopus 로고    scopus 로고
    • Targeted gene misexpression in chick limb buds using avian replication-competent retroviruses
    • Logan M., Tabin C. Targeted gene misexpression in chick limb buds using avian replication-competent retroviruses. Methods 1998, 14:407-420.
    • (1998) Methods , vol.14 , pp. 407-420
    • Logan, M.1    Tabin, C.2
  • 56
    • 43049145520 scopus 로고    scopus 로고
    • Hoxd13 binds in vivo and regulates the expression of genes acting in key pathways for early limb and skeletal patterning
    • Salsi V., Vigano M.A., Cocchiarella F., Mantovani R., Zappavigna V. Hoxd13 binds in vivo and regulates the expression of genes acting in key pathways for early limb and skeletal patterning. Dev. Biol. 2008, 317:497-507.
    • (2008) Dev. Biol. , vol.317 , pp. 497-507
    • Salsi, V.1    Vigano, M.A.2    Cocchiarella, F.3    Mantovani, R.4    Zappavigna, V.5
  • 57
    • 33644867112 scopus 로고    scopus 로고
    • Hoxd13 and Hoxa13 directly control the expression of the EphA7 Ephrin tyrosine kinase receptor in developing limbs
    • Salsi V., Zappavigna V. Hoxd13 and Hoxa13 directly control the expression of the EphA7 Ephrin tyrosine kinase receptor in developing limbs. J. Biol. Chem. 2006, 281:1992-1999.
    • (2006) J. Biol. Chem. , vol.281 , pp. 1992-1999
    • Salsi, V.1    Zappavigna, V.2
  • 58
    • 23344431857 scopus 로고    scopus 로고
    • Group 13 HOX proteins interact with the MH2 domain of R-Smads and modulate Smad transcriptional activation functions independent of HOX DNA-binding capability
    • Williams T.M., Williams M.E., Heaton J.H., Gelehrter T.D., Innis J.W. Group 13 HOX proteins interact with the MH2 domain of R-Smads and modulate Smad transcriptional activation functions independent of HOX DNA-binding capability. Nucleic Acids Res. 2005, 33:4475-4484.
    • (2005) Nucleic Acids Res. , vol.33 , pp. 4475-4484
    • Williams, T.M.1    Williams, M.E.2    Heaton, J.H.3    Gelehrter, T.D.4    Innis, J.W.5
  • 59
    • 14544289121 scopus 로고    scopus 로고
    • Candidate downstream regulated genes of HOX group 13 transcription factors with and without monomeric DNA binding capability
    • Williams T.M., Williams M.E., Kuick R., Misek D., McDonagh K., Hanash S., Innis J.W. Candidate downstream regulated genes of HOX group 13 transcription factors with and without monomeric DNA binding capability. Dev. Biol. 2005, 279:462-480.
    • (2005) Dev. Biol. , vol.279 , pp. 462-480
    • Williams, T.M.1    Williams, M.E.2    Kuick, R.3    Misek, D.4    McDonagh, K.5    Hanash, S.6    Innis, J.W.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.