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Volumn 75, Issue 1, 2004, Pages 75-81

Uncommon deletions of the Smith-Magenis syndrome region can be reccurent when alternate low-copy repeats act as homologous recombination substrates

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 17P; DNA SEQUENCE; DNA SEQUENCE MOTIF; DNA STRAND; DNA STRAND EXCHANGE; GENE; GENE CLUSTER; GENE DELETION; GENE DUPLICATION; GENE MAPPING; GENETIC DISORDER; GENETIC RECOMBINATION; HAPLOIDY; HOMOLOGOUS RECOMBINATION; HUMAN; HYBRID CELL; KER GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN MOTIF; RECIPROCAL CHROMOSOME TRANSLOCATION; SEQUENCE ANALYSIS; SMITH MAGENIS SYNDROME; SOMATIC CELL GENETICS;

EID: 3042641616     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/422016     Document Type: Article
Times cited : (52)

References (34)
  • 1
    • 0043264447 scopus 로고    scopus 로고
    • Translocation and gross deletion breakpoints in human inherited disease and cancer. I: Nucleotide composition and recombination-associated motifs
    • Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV, Cooper DN (2003) Translocation and gross deletion breakpoints in human inherited disease and cancer. I: Nucleotide composition and recombination-associated motifs. Hum Mutat 22: 229-244
    • (2003) Hum Mutat , vol.22 , pp. 229-244
    • Abeysinghe, S.S.1    Chuzhanova, N.2    Krawczak, M.3    Ball, E.V.4    Cooper, D.N.5
  • 2
    • 0023375059 scopus 로고
    • Unusual sequence element found at the end of an amplicon
    • Baran N, Lapidot A, Manor H (1987) Unusual sequence element found at the end of an amplicon. Mol Cell Biol 7: 2636-2640
    • (1987) Mol Cell Biol , vol.7 , pp. 2636-2640
    • Baran, N.1    Lapidot, A.2    Manor, H.3
  • 4
    • 0348230989 scopus 로고    scopus 로고
    • Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2
    • Bi W, Park SS, Shaw CJ, Withers MA, Patel PI, Lupski JR (2003) Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. Am J Hum Genet 73:1302-1315
    • (2003) Am J Hum Genet , vol.73 , pp. 1302-1315
    • Bi, W.1    Park, S.S.2    Shaw, C.J.3    Withers, M.A.4    Patel, P.I.5    Lupski, J.R.6
  • 6
    • 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, Lupski JR (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    Lupski, J.R.8
  • 7
    • 0029057472 scopus 로고
    • Molecular mapping of a recombination hotspot located in the second intron of the human TAP2 locus
    • Cullen M, Erlich H, Klitz W, Carrington M (1995) Molecular mapping of a recombination hotspot located in the second intron of the human TAP2 locus. Am J Hum Genet 56:1350-1358
    • (1995) Am J Hum Genet , vol.56 , pp. 1350-1358
    • Cullen, M.1    Erlich, H.2    Klitz, W.3    Carrington, M.4
  • 9
    • 0026466862 scopus 로고
    • Intramolecular DNA triplexes: Unusual sequence requirements and influence on DNA polymerization
    • Dayn A, Samadashwily GM, Mirkin SM (1992) Intramolecular DNA triplexes: unusual sequence requirements and influence on DNA polymerization. Proc Natl Acad Sci USA 89:11406-11410
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 11406-11410
    • Dayn, A.1    Samadashwily, G.M.2    Mirkin, S.M.3
  • 11
    • 0023645233 scopus 로고
    • Effect of Z-DNA on nucleosome placement
    • Garner MM, Felsenfeld G (1987) Effect of Z-DNA on nucleosome placement. J Mol Biol 196:581-590
    • (1987) J Mol Biol , vol.196 , pp. 581-590
    • Garner, M.M.1    Felsenfeld, G.2
  • 13
    • 0020584610 scopus 로고
    • Facile transition of poly[d(TG) × d(CA)] into a left-handed helix in physiological conditions
    • Haniford DB, Pulleyblank DE (1983) Facile transition of poly[d(TG) × d(CA)] into a left-handed helix in physiological conditions. Nature 302:632-634
    • (1983) Nature , vol.302 , pp. 632-634
    • Haniford, D.B.1    Pulleyblank, D.E.2
  • 14
    • 15844375100 scopus 로고    scopus 로고
    • The biology of left-handed Z-DNA
    • Herbert A, Rich A (1996) The biology of left-handed Z-DNA. J Biol Chem 271:11595-11598
    • (1996) J Biol Chem , vol.271 , pp. 11595-11598
    • Herbert, A.1    Rich, A.2
  • 16
    • 0036778597 scopus 로고    scopus 로고
    • The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors
    • Kolomietz E, Meyn MS, Pandita A, Squire JA (2002) The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors. Genes Chromosomes Cancer 35: 97-112
    • (2002) Genes Chromosomes Cancer , vol.35 , pp. 97-112
    • Kolomietz, E.1    Meyn, M.S.2    Pandita, A.3    Squire, J.A.4
  • 17
    • 0024564609 scopus 로고
    • (dT-dC)n and (dG-dA)n tracts arrest single stranded DNA replication in vitro
    • Lapidot A, Baran N, Manor H (1989) (dT-dC)n and (dG-dA)n tracts arrest single stranded DNA replication in vitro. Nucleic Acids Res 17:883-900
    • (1989) Nucleic Acids Res , vol.17 , pp. 883-900
    • Lapidot, A.1    Baran, N.2    Manor, H.3
  • 18
    • 0032695458 scopus 로고    scopus 로고
    • Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: A study of 17p11.2 rearrangements associated with CMT1A and HNPP
    • Lopes J, Tardieu S, Silander K, Blair I, Vandenberghe A, Palau F, Ruberg M, Brice A, LeGuern E (1999) Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP. Hum Mol Genet 8:2285-2292
    • (1999) Hum Mol Genet , vol.8 , pp. 2285-2292
    • Lopes, J.1    Tardieu, S.2    Silander, K.3    Blair, I.4    Vandenberghe, A.5    Palau, F.6    Ruberg, M.7    Brice, A.8    LeGuern, E.9
  • 20
    • 0031731487 scopus 로고    scopus 로고
    • Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
    • Lupski JR (1998) Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14:417-422
    • (1998) Trends Genet , vol.14 , pp. 417-422
    • Lupski, J.R.1
  • 21
    • 0022407361 scopus 로고
    • A pH-dependent structural transition in the homopurine-homopyrimidine tract in superhelical DNA
    • Lyamichev VI, Mirkin SM, Frank-Kamenetskii MD (1985) A pH-dependent structural transition in the homopurine-homopyrimidine tract in superhelical DNA. J Biomol Struct Dyn 3:327-338
    • (1985) J Biomol Struct Dyn , vol.3 , pp. 327-338
    • Lyamichev, V.I.1    Mirkin, S.M.2    Frank-Kamenetskii, M.D.3
  • 23
    • 0021929387 scopus 로고
    • Transcriptional block caused by a negative supercoiling induced structural change in an alternating CG sequence
    • Peck LJ, Wang JC (1985) Transcriptional block caused by a negative supercoiling induced structural change in an alternating CG sequence. Cell 40:129-137
    • (1985) Cell , vol.40 , pp. 129-137
    • Peck, L.J.1    Wang, J.C.2
  • 24
    • 0344466705 scopus 로고    scopus 로고
    • Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]
    • Potocki L, Shaw CJ, Stankiewicz P, Lupski JR (2003) Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med 5:430-434
    • (2003) Genet Med , vol.5 , pp. 430-434
    • Potocki, L.1    Shaw, C.J.2    Stankiewicz, P.3    Lupski, J.R.4
  • 25
    • 0031972093 scopus 로고    scopus 로고
    • Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients
    • Reiter LT, Hastings PJ, Nelis E, De Jonghe P, Van Broeckhoven C, Lupski JR (1998) Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet 62:1023-1033
    • (1998) Am J Hum Genet , vol.62 , pp. 1023-1033
    • Reiter, L.T.1    Hastings, P.J.2    Nelis, E.3    De Jonghe, P.4    Van Broeckhoven, C.5    Lupski, J.R.6
  • 26
    • 0029962292 scopus 로고    scopus 로고
    • A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
    • Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR (1996) A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet 12:288-297
    • (1996) Nat Genet , vol.12 , pp. 288-297
    • Reiter, L.T.1    Murakami, T.2    Koeuth, T.3    Pentao, L.4    Muzny, D.M.5    Gibbs, R.A.6    Lupski, J.R.7
  • 27
    • 0028967353 scopus 로고
    • One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi
    • Rudiger NS, Gregersen N, Kielland-Brandt MC (1995) One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. Nucleic Acids Res 23:256-260
    • (1995) Nucleic Acids Res , vol.23 , pp. 256-260
    • Rudiger, N.S.1    Gregersen, N.2    Kielland-Brandt, M.C.3
  • 28
    • 0036842833 scopus 로고    scopus 로고
    • Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2
    • Shaw CJ, Bi W, Lupski JR (2002) Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. Am J Hum Genet 71:1072-1081
    • (2002) Am J Hum Genet , vol.71 , pp. 1072-1081
    • Shaw, C.J.1    Bi, W.2    Lupski, J.R.3
  • 29
    • 1842526843 scopus 로고    scopus 로고
    • Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease
    • Shaw CJ, Lupski JR (2004) Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet Suppl 13:R57-64
    • (2004) Hum Mol Genet Suppl , vol.13
    • Shaw, C.J.1    Lupski, J.R.2
  • 30
    • 1242269840 scopus 로고    scopus 로고
    • Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders
    • Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR (2004) Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders. J Med Genet 41:113-119
    • (2004) J Med Genet , vol.41 , pp. 113-119
    • Shaw, C.J.1    Shaw, C.A.2    Yu, W.3    Stankiewicz, P.4    White, L.D.5    Beaudet, A.L.6    Lupski, J.R.7
  • 31
    • 0025056628 scopus 로고
    • Eukaryotic topoisomerase II preferentially cleaves alternating purine-pyrimidine repeats
    • Spitzner JR, Chung IK, Muller MT (1990) Eukaryotic topoisomerase II preferentially cleaves alternating purine-pyrimidine repeats. Nucleic Acids Res 18:1-11
    • (1990) Nucleic Acids Res , vol.18 , pp. 1-11
    • Spitzner, J.R.1    Chung, I.K.2    Muller, M.T.3
  • 32
    • 0036468807 scopus 로고    scopus 로고
    • Genome architecture, rearrangements and genomic disorders
    • Stankiewicz P, Lupski JR (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet 18:74-82
    • (2002) Trends Genet , vol.18 , pp. 74-82
    • Stankiewicz, P.1    Lupski, J.R.2
  • 34
    • 0037603172 scopus 로고    scopus 로고
    • Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions: Are all deletions created equally?
    • Vlangos CN, Yim DK, Elsea SH (2003) Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions: are all deletions created equally? Mol Genet Metab 79:134-141
    • (2003) Mol Genet Metab , vol.79 , pp. 134-141
    • Vlangos, C.N.1    Yim, D.K.2    Elsea, S.H.3


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