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Volumn 64, Issue 3, 1999, Pages 747-758

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SEQUENCE; ARTICLE; CHROMOSOME 11; CHROMOSOME 22; CHROMOSOME 22Q; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CHROMOSOME SEGREGATION; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; DERIVATIVE 22 SYNDROME; DIGEORGE SYNDROME; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DOSAGE; HAPLOTYPE; HUMAN; HYBRID CELL; MALFORMATION SYNDROME; MEIOSIS; MENTAL RETARDATION MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PARTIAL TRISOMY; PRIORITY JOURNAL; VELOCARDIOFACIAL SYNDROME;

EID: 0033361897     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302284     Document Type: Article
Times cited : (45)

References (48)
  • 3
    • 0028937195 scopus 로고
    • Co-activation of RanGTPase and inhibition of GTP dissociation by Ran-GTP binding protein RanBP1
    • Bischoff FR, Krebber H, Smirnova E, Dong W, Ponstingl H (1995) Co-activation of RanGTPase and inhibition of GTP dissociation by Ran-GTP binding protein RanBP1. EMBO J 15:705-715
    • (1995) EMBO J , vol.15 , pp. 705-715
    • Bischoff, F.R.1    Krebber, H.2    Smirnova, E.3    Dong, W.4    Ponstingl, H.5
  • 4
    • 0028998317 scopus 로고
    • Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene
    • Budarf ML, Collins J, Gong W, Roe B, Wang Z, Bailey LC, Sellinger B, et al (1995) Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nat Genet 10:269-278
    • (1995) Nat Genet , vol.10 , pp. 269-278
    • Budarf, M.L.1    Collins, J.2    Gong, W.3    Roe, B.4    Wang, Z.5    Bailey, L.C.6    Sellinger, B.7
  • 5
    • 0030586267 scopus 로고    scopus 로고
    • Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel
    • Budarf ML, Eckman B, Michaud D, McDonald T, Gavigan S, Buetow KH, Tatsumura Y, et al (1996) Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel. Genomics 35:275-288
    • (1996) Genomics , vol.35 , pp. 275-288
    • Budarf, M.L.1    Eckman, B.2    Michaud, D.3    McDonald, T.4    Gavigan, S.5    Buetow, K.H.6    Tatsumura, Y.7
  • 6
    • 0025080192 scopus 로고
    • Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome
    • Carey AH, Roach S, Williamson R, Dumanski JP, Nordenskjold M, Collins VP, Rouleau G, et al (1990) Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome. Genomics 7:299-306
    • (1990) Genomics , vol.7 , pp. 299-306
    • Carey, A.H.1    Roach, S.2    Williamson, R.3    Dumanski, J.P.4    Nordenskjold, M.5    Collins, V.P.6    Rouleau, G.7
  • 8
    • 0027972378 scopus 로고
    • Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
    • Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR (1994) Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 3:223-228
    • (1994) Hum Mol Genet , vol.3 , pp. 223-228
    • Chance, P.F.1    Abbas, N.2    Lensch, M.W.3    Pentao, L.4    Roa, B.B.5    Patel, P.I.6    Lupski, J.R.7
  • 9
    • 0030881588 scopus 로고    scopus 로고
    • Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
    • Chen KS, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, et al (1997) Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 17:154-163
    • (1997) Nat Genet , vol.17 , pp. 154-163
    • Chen, K.S.1    Manian, P.2    Koeuth, T.3    Potocki, L.4    Zhao, Q.5    Chinault, A.C.6    Lee, C.C.7
  • 11
    • 0030950736 scopus 로고    scopus 로고
    • The organization of the gamma-glutamyl transferase genes and other low copy repeats in human chromosome 22q11
    • Collins JE, Mungall AJ, Badcock KL, Fay JM, Dunham I (1997) The organization of the gamma-glutamyl transferase genes and other low copy repeats in human chromosome 22q11. Genome Res 7:522-531
    • (1997) Genome Res , vol.7 , pp. 522-531
    • Collins, J.E.1    Mungall, A.J.2    Badcock, K.L.3    Fay, J.M.4    Dunham, I.5
  • 12
    • 0031962337 scopus 로고    scopus 로고
    • Interactions with single-stranded and double-stranded DNA-binding factors and alternative promoter conformation upon transcriptional activation of the Htf9-a/RanBP1 and Htf9-c genes
    • Di Matteo G, Salerno M, Guarguaglini G, Di Fiore B, Palitti F, Lavia P (1998) Interactions with single-stranded and double-stranded DNA-binding factors and alternative promoter conformation upon transcriptional activation of the Htf9-a/RanBP1 and Htf9-c genes. J Biol Chem 273:495-505
    • (1998) J Biol Chem , vol.273 , pp. 495-505
    • Di Matteo, G.1    Salerno, M.2    Guarguaglini, G.3    Di Fiore, B.4    Palitti, F.5    Lavia, P.6
  • 13
    • 0000025287 scopus 로고
    • A new concept of the cellular basis of immunity
    • DiGeorge A (1965) A new concept of the cellular basis of immunity. J Pediatr 67:907-908
    • (1965) J Pediatr , vol.67 , pp. 907-908
    • DiGeorge, A.1
  • 14
    • 0026750771 scopus 로고
    • A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11
    • Driscoll DA, Budarf ML, Emanuel BS (1992a) A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet 50:924-933
    • (1992) Am J Hum Genet , vol.50 , pp. 924-933
    • Driscoll, D.A.1    Budarf, M.L.2    Emanuel, B.S.3
  • 16
    • 85031596784 scopus 로고    scopus 로고
    • Low copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome
    • in press
    • Edelmann L, Pandita RK Morrow B. Low copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet (in press)
    • Am J Hum Genet
    • Edelmann, L.1    Pandita, R.K.2    Morrow, B.3
  • 17
    • 0018932911 scopus 로고
    • The 11q;22q translocation: A European collaborative analysis of 43 cases
    • Fraccaro M, Lindsten J, Ford CE, Iselius L (1980) The 11q;22q translocation: a European collaborative analysis of 43 cases. Hum Genet 56:21-51
    • (1980) Hum Genet , vol.56 , pp. 21-51
    • Fraccaro, M.1    Lindsten, J.2    Ford, C.E.3    Iselius, L.4
  • 18
    • 0019511310 scopus 로고
    • The aetiology of the cat eye syndrome reconsidered
    • Guanti G (1981) The aetiology of the cat eye syndrome reconsidered. J Med Genet 18:108-118
    • (1981) J Med Genet , vol.18 , pp. 108-118
    • Guanti, G.1
  • 19
    • 0027411124 scopus 로고
    • Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11
    • Halford S, Lindsay E, Nayudu M, Carey AH, Baldini A, Scambler PJ (1993a) Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11. Hum Mol Genet 2:191-196
    • (1993) Hum Mol Genet , vol.2 , pp. 191-196
    • Halford, S.1    Lindsay, E.2    Nayudu, M.3    Carey, A.H.4    Baldini, A.5    Scambler, P.J.6
  • 20
    • 0027486337 scopus 로고
    • Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome
    • Halford S, Wilson DI, Daw SC, Roberts C, Wadey R, Kamath S, Wickremasinghe A, et al (1993b) Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome. Hum Mol Genet 2:1577-1582 .
    • (1993) Hum Mol Genet , vol.2 , pp. 1577-1582
    • Halford, S.1    Wilson, D.I.2    Daw, S.C.3    Roberts, C.4    Wadey, R.5    Kamath, S.6    Wickremasinghe, A.7
  • 21
    • 0025891865 scopus 로고
    • Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11
    • Herzog R, Lutz S, Blin N, Marasa JC, Blinder MA, Tollefsen DM (1991) Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11. Biochemistry 30:1350-1357
    • (1991) Biochemistry , vol.30 , pp. 1350-1357
    • Herzog, R.1    Lutz, S.2    Blin, N.3    Marasa, J.C.4    Blinder, M.A.5    Tollefsen, D.M.6
  • 22
    • 0028912759 scopus 로고
    • Interstitial duplication of proximal 22q: Phenotypic overlap with cat eye syndrome
    • Knoll JHM, Asamoah A, Pletcher BA, Wagstaff J (1995) Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome. Am J Med Genet 55:221-224
    • (1995) Am J Med Genet , vol.55 , pp. 221-224
    • Knoll, J.H.M.1    Asamoah, A.2    Pletcher, B.A.3    Wagstaff, J.4
  • 24
    • 0028869111 scopus 로고
    • Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome
    • Levy A, Demczuk S, Aurias A, Depetris D, Mattei M, Philip N (1995) Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome. Hum Mol Genet 4:2417-2419
    • (1995) Hum Mol Genet , vol.4 , pp. 2417-2419
    • Levy, A.1    Demczuk, S.2    Aurias, A.3    Depetris, D.4    Mattei, M.5    Philip, N.6
  • 27
    • 0027328673 scopus 로고
    • Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization
    • Lindsay EA, Halford S, Wadey R, Scambler PJ, Baldini A (1993) Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization. Genomics 17:403-407
    • (1993) Genomics , vol.17 , pp. 403-407
    • Lindsay, E.A.1    Halford, S.2    Wadey, R.3    Scambler, P.J.4    Baldini, A.5
  • 29
    • 0031663725 scopus 로고    scopus 로고
    • Cat eye syndrome chromosome breakpoint clustering: Identification of two intervals also associated with 22q11 deletion syndrome breakpoints
    • McTaggart KE, Budarf ML, Driscoll DA, Emanuel BS, Ferreira P, McDermid HE (1998) Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints. Cytogenet Cell Genet 81:222-228
    • (1998) Cytogenet Cell Genet , vol.81 , pp. 222-228
    • McTaggart, K.E.1    Budarf, M.L.2    Driscoll, D.A.3    Emanuel, B.S.4    Ferreira, P.5    McDermid, H.E.6
  • 31
    • 0029161489 scopus 로고
    • Minute supernumerary ring chromosome 22 associated with cat eye syndrome: Further delineation of the critical region
    • Mears AJ, el-Shanti H, Murray JC, McDermid HE, Patil SR (1995) Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region. Am J Hum Genet 57:667-673
    • (1995) Am J Hum Genet , vol.57 , pp. 667-673
    • Mears, A.J.1    El-Shanti, H.2    Murray, J.C.3    McDermid, H.E.4    Patil, S.R.5
  • 34
    • 0030960331 scopus 로고    scopus 로고
    • Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region
    • O'Donnell H, McKeown C, Gould C, Morrow B, Scambler P (1997) Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region. Am J Hum Genet 60:1544-1548
    • (1997) Am J Hum Genet , vol.60 , pp. 1544-1548
    • O'Donnell, H.1    McKeown, C.2    Gould, C.3    Morrow, B.4    Scambler, P.5
  • 35
    • 0031886974 scopus 로고    scopus 로고
    • A duplicated gene in the breakpoint regions of the 7q11.23 williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK
    • Perez Jurado LA, Wang YK, Peoples R, Coloma A, Cruces J, Francke U (1998) A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Hum Mol Genet 7: 325-334
    • (1998) Hum Mol Genet , vol.7 , pp. 325-334
    • Perez Jurado, L.A.1    Wang, Y.K.2    Peoples, R.3    Coloma, A.4    Cruces, J.5    Francke, U.6
  • 37
    • 13144267719 scopus 로고    scopus 로고
    • Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization
    • Puech A, Saint-Jore B, Funke B, Gilbert DJ, Sirotkin H, Copeland NG, Jenkins NA, et al (1997) Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization. Proc Natl Acad Sci USA 94:14608-14613
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 14608-14613
    • Puech, A.1    Saint-Jore, B.2    Funke, B.3    Gilbert, D.J.4    Sirotkin, H.5    Copeland, N.G.6    Jenkins, N.A.7
  • 38
  • 40
    • 0026511084 scopus 로고
    • Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus
    • Scambler PJ, Kelly D, Lindsay E, Williamson R, Goldberg R, Shprintzen R, Wilson DI, et al (1992) Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet 339:1138-1139
    • (1992) Lancet , vol.339 , pp. 1138-1139
    • Scambler, P.J.1    Kelly, D.2    Lindsay, E.3    Williamson, R.4    Goldberg, R.5    Shprintzen, R.6    Wilson, D.I.7
  • 41
    • 0019461128 scopus 로고
    • The "cat eye syndrome": Dicentric small marker chromosome probably derived from a no. 22 (tetrasomy 22pter to q11) associated with a characteristic phenotype
    • Schinzel A, Schmid W, Fraccaro M, Tiepolo L, Zuffardi O, Opitz JM, Lindsten J, et al (1981) The "cat eye syndrome": dicentric small marker chromosome probably derived from a no. 22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Hum Genet 57:148-158
    • (1981) Hum Genet , vol.57 , pp. 148-158
    • Schinzel, A.1    Schmid, W.2    Fraccaro, M.3    Tiepolo, L.4    Zuffardi, O.5    Opitz, J.M.6    Lindsten, J.7
  • 42
    • 0017821181 scopus 로고
    • A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome
    • Shprintzen RJ, Goldberg RB, Lewin ML, Sidoti EJ, Berkman MD, Argamaso RV, Young D (1978) A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J 15:56-62
    • (1978) Cleft Palate J , vol.15 , pp. 56-62
    • Shprintzen, R.J.1    Goldberg, R.B.2    Lewin, M.L.3    Sidoti, E.J.4    Berkman, M.D.5    Argamaso, R.V.6    Young, D.7
  • 44
  • 45
    • 0029119145 scopus 로고
    • Cre-mediated site-specific translocation between nonhomologous mouse chromosomes
    • Van Deursen J, Fornerod M, Van Rees B, Grosveld G (1995) Cre-mediated site-specific translocation between nonhomologous mouse chromosomes. Proc Natl Acad Sci USA 92: 7376-7380
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 7376-7380
    • Van Deursen, J.1    Fornerod, M.2    Van Rees, B.3    Grosveld, G.4
  • 47
    • 0031946990 scopus 로고    scopus 로고
    • Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15
    • Wandstrat AE, Leana-Cox J, Jenkins L, Schwartz S (1998) Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15. Am J Hum Genet 62:925-936
    • (1998) Am J Hum Genet , vol.62 , pp. 925-936
    • Wandstrat, A.E.1    Leana-Cox, J.2    Jenkins, L.3    Schwartz, S.4
  • 48
    • 0019135082 scopus 로고
    • Site-specific reciprocal translocation t(11;22)(q23;q11), in several unrelated families with 3:1 meiotic disjunction
    • Zackai EH, Emanuel BS (1980) Site-specific reciprocal translocation t(11;22)(q23;q11), in several unrelated families with 3:1 meiotic disjunction. Am J Med Genet 7:507-521
    • (1980) Am J Med Genet , vol.7 , pp. 507-521
    • Zackai, E.H.1    Emanuel, B.S.2


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