메뉴 건너뛰기




Volumn 637, Issue 1-2, 2008, Pages 182-189

A novel mutation of p63 in a Chinese family with inherited syndactyly and adactylism

Author keywords

Chinese family; Missense mutation; p63; SHFM; SSCP

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CLINICAL ARTICLE; FEMALE; GENE SEGREGATION; HUMAN; MALE; MISSENSE MUTATION; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SPLIT HAND SPLIT FOOT MALFORMATION; SYNDACTYLY; TUMOR SUPPRESSOR GENE;

EID: 37149053494     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2007.08.010     Document Type: Article
Times cited : (4)

References (42)
  • 2
    • 84876816454 scopus 로고
    • M. A Patton. Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21. 3-q22. 1
    • Scherer S.W., Poorkaj P., Allen T., Kim J., Geshuri D., Nunes M., et al. M. A Patton. Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21. 3-q22. 1. Am. J. Hum. Genet. 55 (1994) 12-20
    • (1994) Am. J. Hum. Genet. , vol.55 , pp. 12-20
    • Scherer, S.W.1    Poorkaj, P.2    Allen, T.3    Kim, J.4    Geshuri, D.5    Nunes, M.6
  • 3
    • 0028110965 scopus 로고
    • Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly
    • Scherer S.W., Poorkaj P., Massa H., Soder S., Allen T., Nunes M., et al. Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. Hum. Mol. Genet. 8 (1994) 1345-1354
    • (1994) Hum. Mol. Genet. , vol.8 , pp. 1345-1354
    • Scherer, S.W.1    Poorkaj, P.2    Massa, H.3    Soder, S.4    Allen, T.5    Nunes, M.6
  • 4
    • 0023099997 scopus 로고
    • X-chromosomally inherited split hand/split foot anomaly in a Pakistani kindred
    • Ahmad M., Abbas H., Haque S., and Flatz G. X-chromosomally inherited split hand/split foot anomaly in a Pakistani kindred. Hum. Genet. 75 (1987) 169-173
    • (1987) Hum. Genet. , vol.75 , pp. 169-173
    • Ahmad, M.1    Abbas, H.2    Haque, S.3    Flatz, G.4
  • 8
    • 0036392947 scopus 로고    scopus 로고
    • Association of ectrodactyly and distal phocomelia
    • Delrue M.A., and Lacombe D. Association of ectrodactyly and distal phocomelia. Genet Couns. 13 (2002) 319-325
    • (2002) Genet Couns. , vol.13 , pp. 319-325
    • Delrue, M.A.1    Lacombe, D.2
  • 9
    • 0032744735 scopus 로고    scopus 로고
    • Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
    • Celli J., Duijf P., Hamel B.C., Bamshad M., Kramer B., and Smits A.P. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 99 (1999) 143-153
    • (1999) Cell , vol.99 , pp. 143-153
    • Celli, J.1    Duijf, P.2    Hamel, B.C.3    Bamshad, M.4    Kramer, B.5    Smits, A.P.6
  • 11
    • 0036158262 scopus 로고    scopus 로고
    • A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
    • Goodman F.R., Majewski F., Collins A.L., and Scambler P.J. A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. Am. J. Hum. Genet. 70 (2002) 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
  • 12
    • 0036558218 scopus 로고    scopus 로고
    • The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal development
    • Robledo R.F., Rajan L., Li X., and Lufkin T. The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal development. Genes. Dev. 16 (2002) 1089-1101
    • (2002) Genes. Dev. , vol.16 , pp. 1089-1101
    • Robledo, R.F.1    Rajan, L.2    Li, X.3    Lufkin, T.4
  • 15
    • 0032231318 scopus 로고    scopus 로고
    • Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families
    • Frances G., Maria-Luisa G.U., Christine H., William R., Robin W., and Peter S. Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families. Am. J. Hum. Genet. 63 (1998) 992-1000
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 992-1000
    • Frances, G.1    Maria-Luisa, G.U.2    Christine, H.3    William, R.4    Robin, W.5    Peter, S.6
  • 19
    • 0033769921 scopus 로고    scopus 로고
    • Heterozygous germ-line missense mutation in the p63 gene underlying EEC syndrome
    • Wessagowit V., Mellerio J.E., Pembroke A.C., and McGrath J.A. Heterozygous germ-line missense mutation in the p63 gene underlying EEC syndrome. Clin. Exp. Dermatol. 25 (2000) 441-443
    • (2000) Clin. Exp. Dermatol. , vol.25 , pp. 441-443
    • Wessagowit, V.1    Mellerio, J.E.2    Pembroke, A.C.3    McGrath, J.A.4
  • 20
    • 0033594485 scopus 로고    scopus 로고
    • p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development
    • Yang A., Schweitzer R., Sun D., Kaghad M., Walker N., Bronson R.T., et al. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature 398 (1999) 714-718
    • (1999) Nature , vol.398 , pp. 714-718
    • Yang, A.1    Schweitzer, R.2    Sun, D.3    Kaghad, M.4    Walker, N.5    Bronson, R.T.6
  • 21
    • 13144295009 scopus 로고    scopus 로고
    • p73 and p63: why do we still need them?
    • Blandino G., and Dobbelstein M. p73 and p63: why do we still need them?. Cell Cycle 2 (2004) 886-894
    • (2004) Cell Cycle , vol.2 , pp. 886-894
    • Blandino, G.1    Dobbelstein, M.2
  • 23
    • 0034892604 scopus 로고    scopus 로고
    • p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
    • van Bokhoven H., Hamel B.C., Bamshad M., Sangiorgi E., Gurrieri F., Duijf P.H., et al. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am. J. Hum. Genet. 69 (2001) 481-492
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 481-492
    • van Bokhoven, H.1    Hamel, B.C.2    Bamshad, M.3    Sangiorgi, E.4    Gurrieri, F.5    Duijf, P.H.6
  • 24
    • 15744380371 scopus 로고    scopus 로고
    • Isolated Ectrodactyly Caused by a Heterozygous Missense Mutation in the Transactivation Domain of TP63 American
    • Zenteno J.C., Berdo′n-Zapata V., Kofman-Alfaro S., and Mutchinick O.M. Isolated Ectrodactyly Caused by a Heterozygous Missense Mutation in the Transactivation Domain of TP63 American. J. Med. Genet. 134 (2005) 74-76
    • (2005) J. Med. Genet. , vol.134 , pp. 74-76
    • Zenteno, J.C.1    Berdon-Zapata, V.2    Kofman-Alfaro, S.3    Mutchinick, O.M.4
  • 26
    • 17644407601 scopus 로고    scopus 로고
    • The protein stability and transcriptional activity of p63alpha are regulated by SUMO-1 conjugation
    • Ghioni P., Alessandra Y.D., Mansueto G., Jaffray E., Hay R.T., La M.G., and Guerrini L. The protein stability and transcriptional activity of p63alpha are regulated by SUMO-1 conjugation. Cell Cycle 4 (2005) 183-190
    • (2005) Cell Cycle , vol.4 , pp. 183-190
    • Ghioni, P.1    Alessandra, Y.D.2    Mansueto, G.3    Jaffray, E.4    Hay, R.T.5    La, M.G.6    Guerrini, L.7
  • 27
    • 0031669433 scopus 로고    scopus 로고
    • Rapid, simple alkaline extraction of human genomic DNA from whole blood, buccal epithelial cells, semen and forensic stains for PCR
    • Rudbeck L., and Dissing J. Rapid, simple alkaline extraction of human genomic DNA from whole blood, buccal epithelial cells, semen and forensic stains for PCR. Biotechniques 25 (1998) 588-592
    • (1998) Biotechniques , vol.25 , pp. 588-592
    • Rudbeck, L.1    Dissing, J.2
  • 29
    • 9244248158 scopus 로고    scopus 로고
    • Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development
    • Crackower M.A., Scherer S.W., Rommens J.M., Hui C.C., Poorkaj P., Soder S., Cobben J.M., Hudgins L., Evans J.P., and Tsui L.C. Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Hum. Mol. Genet. 5 (1996) 571-579
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 571-579
    • Crackower, M.A.1    Scherer, S.W.2    Rommens, J.M.3    Hui, C.C.4    Poorkaj, P.5    Soder, S.6    Cobben, J.M.7    Hudgins, L.8    Evans, J.P.9    Tsui, L.C.10
  • 30
    • 33745509671 scopus 로고    scopus 로고
    • A mutation of the p63 gene in non-syndromic cleft lip
    • Leoyklang P., Siriwan P., and Shotelersuk V. A mutation of the p63 gene in non-syndromic cleft lip. J. Med. Genet. 43 (2006) 28-32
    • (2006) J. Med. Genet. , vol.43 , pp. 28-32
    • Leoyklang, P.1    Siriwan, P.2    Shotelersuk, V.3
  • 31
    • 0035234639 scopus 로고    scopus 로고
    • Holland ancient orign of the Hox gene cluster
    • David E.K., and Ferrier Peter W.H. Holland ancient orign of the Hox gene cluster. Nat. Rev. Genet. 2 (2001) 33-38
    • (2001) Nat. Rev. Genet. , vol.2 , pp. 33-38
    • David, E.K.1    Ferrier Peter, W.H.2
  • 32
    • 0037079049 scopus 로고    scopus 로고
    • Serial deletion and duplications suggest a mechanism for the collinearity of Hoxd genes in limbs
    • Marie K., Nadine F., Yann H., and Denis D. Serial deletion and duplications suggest a mechanism for the collinearity of Hoxd genes in limbs. Nature 420 (2002) 145-150
    • (2002) Nature , vol.420 , pp. 145-150
    • Marie, K.1    Nadine, F.2    Yann, H.3    Denis, D.4
  • 33
    • 10744232005 scopus 로고    scopus 로고
    • A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24
    • de Mollerat X.J., Gurrieri F., Morgan C.T., Sangiorgi E., Everman D.B., Gaspari P., et al. A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum. Mol. Genet. 12 (2003) 1959-1971
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 1959-1971
    • de Mollerat, X.J.1    Gurrieri, F.2    Morgan, C.T.3    Sangiorgi, E.4    Everman, D.B.5    Gaspari, P.6
  • 34
    • 0037169519 scopus 로고    scopus 로고
    • The human MDM2 oncoprotein increases the transcriptional activity and the protein level of the p53 homolog p63
    • Calabro V., Mansueto G., Parisi T., Vivo M., Calogero R.A., La Mantia G., et al. The human MDM2 oncoprotein increases the transcriptional activity and the protein level of the p53 homolog p63. J. Biol. Chem. 277 (2002) 2674-2681
    • (2002) J. Biol. Chem. , vol.277 , pp. 2674-2681
    • Calabro, V.1    Mansueto, G.2    Parisi, T.3    Vivo, M.4    Calogero, R.A.5    La Mantia, G.6
  • 35
    • 0032161624 scopus 로고    scopus 로고
    • p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death inducing, and dominant-negative activities
    • Yang A., Kaghad M., Wang Y., Gillett E., Fleming M.D., Dotsch V., Andrews N.C., et al. p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death inducing, and dominant-negative activities. Mol. Cell 2 (1998) 305-316
    • (1998) Mol. Cell , vol.2 , pp. 305-316
    • Yang, A.1    Kaghad, M.2    Wang, Y.3    Gillett, E.4    Fleming, M.D.5    Dotsch, V.6    Andrews, N.C.7
  • 36
    • 33644859598 scopus 로고    scopus 로고
    • Mechanisms of transcriptional repression of cell-cycle G2/M promoters by p63
    • Barbara T., and Roberto M. Mechanisms of transcriptional repression of cell-cycle G2/M promoters by p63. Nucl. Acid Res. 34 (2006) 928-938
    • (2006) Nucl. Acid Res. , vol.34 , pp. 928-938
    • Barbara, T.1    Roberto, M.2
  • 37
    • 0033594491 scopus 로고    scopus 로고
    • p63 is a homologue required for limb and epidermal morphogenesis
    • Mills A.A., Zheng B., Wang X.J., Vogel H., Roop D.R., and Bradley A. p63 is a homologue required for limb and epidermal morphogenesis. Nature 398 (1999) 708-713
    • (1999) Nature , vol.398 , pp. 708-713
    • Mills, A.A.1    Zheng, B.2    Wang, X.J.3    Vogel, H.4    Roop, D.R.5    Bradley, A.6
  • 38
    • 26844579208 scopus 로고    scopus 로고
    • Dlx genes, p63, and ectodermal dysplasias
    • Morasso M.I., and Radoja N. Dlx genes, p63, and ectodermal dysplasias. Birth Defects Res. 75 (2005) 163-171
    • (2005) Birth Defects Res. , vol.75 , pp. 163-171
    • Morasso, M.I.1    Radoja, N.2
  • 39
    • 0027771333 scopus 로고
    • The DNA-binding domain of p53 contains the four conserved regions and the major mutation hot spots
    • Pavletich N.P., Chambers K.A., and Pabo C.O. The DNA-binding domain of p53 contains the four conserved regions and the major mutation hot spots. Genes Dev. 7 (1993) 2556-2564
    • (1993) Genes Dev. , vol.7 , pp. 2556-2564
    • Pavletich, N.P.1    Chambers, K.A.2    Pabo, C.O.3
  • 40
    • 0027983669 scopus 로고
    • Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations
    • Cho Y., Gorina S., Jeffrey P.D., and Pavletich N.P. Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations. Science 265 (1994) 346-355
    • (1994) Science , vol.265 , pp. 346-355
    • Cho, Y.1    Gorina, S.2    Jeffrey, P.D.3    Pavletich, N.P.4
  • 41
    • 3042813412 scopus 로고    scopus 로고
    • p63: molecular complexity in development and cancer
    • Matthewand D.W., and Jennifer A.P. p63: molecular complexity in development and cancer. Carcinogenesis 25 (2004) 857-864
    • (2004) Carcinogenesis , vol.25 , pp. 857-864
    • Matthewand, D.W.1    Jennifer, A.P.2
  • 42
    • 21744440252 scopus 로고    scopus 로고
    • DNA-binding and transactivation activities are essential for tap63 protein degradation
    • Ying H.Q., Chang D.L., Zheng H.W., McKeon F., and Xiao Z.X. DNA-binding and transactivation activities are essential for tap63 protein degradation. Mol. Cell Biol. 25 (2005) 6154-6164
    • (2005) Mol. Cell Biol. , vol.25 , pp. 6154-6164
    • Ying, H.Q.1    Chang, D.L.2    Zheng, H.W.3    McKeon, F.4    Xiao, Z.X.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.