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Volumn 12, Issue 2, 2004, Pages 133-141

Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions

Author keywords

Human genomes; Monosomy 1p36; Repetitive DNA elements; Terminal deletion breakpoints

Indexed keywords

ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME REARRANGEMENT; COHORT ANALYSIS; CONTROLLED STUDY; DNA SEQUENCE; GENE DELETION; HUMAN; MAJOR CLINICAL STUDY; MONOSOMY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 1542373558     PISSN: 09673849     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:CHRO.0000013165.88969.10     Document Type: Article
Times cited : (22)

References (41)
  • 1
    • 0033776316 scopus 로고    scopus 로고
    • FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes
    • Ballif BC, Kashork CD, Shaffer LG (2000) FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes. Eur J Hum Genet 8: 764-770.
    • (2000) Eur J Hum Genet , vol.8 , pp. 764-770
    • Ballif, B.C.1    Kashork, C.D.2    Shaffer, L.G.3
  • 2
    • 0042232610 scopus 로고    scopus 로고
    • Monosomy 1p36 breakpoints suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions
    • Ballif BC, Yu W, Shaw CA, Kashork CD, Shaffer LG (2003) Monosomy 1p36 breakpoints suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions. Hum Mol Genet 12: 2153-2165.
    • (2003) Hum Mol Genet , vol.12 , pp. 2153-2165
    • Ballif, B.C.1    Yu, W.2    Shaw, C.A.3    Kashork, C.D.4    Shaffer, L.G.5
  • 3
    • 1042269551 scopus 로고    scopus 로고
    • Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements
    • Ballif BC, Wakui K, Gajecka M, Shaffer LG (2004) Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements. Hum Genet 114: 198-206.
    • (2004) Hum Genet , vol.114 , pp. 198-206
    • Ballif, B.C.1    Wakui, K.2    Gajecka, M.3    Shaffer, L.G.4
  • 4
    • 0032855564 scopus 로고    scopus 로고
    • Minisatellite instability and germline mutation
    • Bois P, Jeffreys AJ (1999) Minisatellite instability and germline mutation. Cell Mol Life Sci 55: 1636-1648.
    • (1999) Cell Mol Life Sci , vol.55 , pp. 1636-1648
    • Bois, P.1    Jeffreys, A.J.2
  • 6
    • 0031737723 scopus 로고    scopus 로고
    • Chromosome break-induced DNA replication leads to nonreciprocal translocations and telomere capture
    • Bosco G, Haber JE (1998) Chromosome break-induced DNA replication leads to nonreciprocal translocations and telomere capture. Genetics 150: 1037-1047.
    • (1998) Genetics , vol.150 , pp. 1037-1047
    • Bosco, G.1    Haber, J.E.2
  • 7
    • 0031778692 scopus 로고    scopus 로고
    • Identification of cryptic rearrangements in patients with 18q-deletion syndrome
    • Brkanac Z, Cody JD, Leach RJ, DuPont BR (1998) Identification of cryptic rearrangements in patients with 18q-deletion syndrome. Am J Hum Genet 62: 1500-1506.
    • (1998) Am J Hum Genet , vol.62 , pp. 1500-1506
    • Brkanac, Z.1    Cody, J.D.2    Leach, R.J.3    DuPont, B.R.4
  • 8
    • 0035902443 scopus 로고    scopus 로고
    • Instability of repetitive DNA sequences: The role of replication in multiple mechanisms
    • Bzymek M, Lovett ST (2001) Instability of repetitive DNA sequences: the role of replication in multiple mechanisms. Proc Natl Acad Sci USA 98: 8319-8325.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 8319-8325
    • Bzymek, M.1    Lovett, S.T.2
  • 10
    • 0036591887 scopus 로고    scopus 로고
    • Mechanisms of chromosome-end protection
    • Cervantes RB, Lundblad V (2002) Mechanisms of chromosome-end protection. Curr Opin Cell Biol 14: 351-356.
    • (2002) Curr Opin Cell Biol , vol.14 , pp. 351-356
    • Cervantes, R.B.1    Lundblad, V.2
  • 11
    • 0033357990 scopus 로고    scopus 로고
    • Chromosome breakage hotspots and delineation of the critical region for 9p-deletion syndrome
    • Christ LA, Crowe CA, Micale MA, Conroy JM, Schwartz S (1999) Chromosome breakage hotspots and delineation of the critical region for 9p-deletion syndrome. Am J Hum Genet 65: 1387-1395.
    • (1999) Am J Hum Genet , vol.65 , pp. 1387-1395
    • Christ, L.A.1    Crowe, C.A.2    Micale, M.A.3    Conroy, J.M.4    Schwartz, S.5
  • 13
    • 0037136318 scopus 로고    scopus 로고
    • Evidence for replicative repair of DNA double-strand breaks leading to oncogenic translocation and gene amplification
    • Difilippantonio MJ, Petersen S, Chen HT et al. (2002) Evidence for replicative repair of DNA double-strand breaks leading to oncogenic translocation and gene amplification. J Exp Med 196: 469-480.
    • (2002) J Exp Med , vol.196 , pp. 469-480
    • Difilippantonio, M.J.1    Petersen, S.2    Chen, H.T.3
  • 14
    • 0035159359 scopus 로고    scopus 로고
    • AT-rich palindromes mediate the constitutional t(11;22) translocation
    • Edelmann L, Spiteri E, Koren K et al. (2001) AT-rich palindromes mediate the constitutional t(11;22) translocation. Am J Hum Genet 68: 1-13.
    • (2001) Am J Hum Genet , vol.68 , pp. 1-13
    • Edelmann, L.1    Spiteri, E.2    Koren, K.3
  • 15
    • 0028128516 scopus 로고
    • Healing of broken human chromosomes by the addition of telomeric repeats
    • Flint J, Craddock CF, Villegas A et al. (1994) Healing of broken human chromosomes by the addition of telomeric repeats. Am J Hum Genet 55: 505-512.
    • (1994) Am J Hum Genet , vol.55 , pp. 505-512
    • Flint, J.1    Craddock, C.F.2    Villegas, A.3
  • 16
    • 10144238531 scopus 로고    scopus 로고
    • Chromosomal stabilization by a subtelomeric rearrangement involving two closely related Alu elements
    • Flint J, Rochette J, Craddock CF et al. (1996) Chromosomal stabilization by a subtelomeric rearrangement involving two closely related Alu elements. Hum Mol Genet 5: 1163-1169.
    • (1996) Hum Mol Genet , vol.5 , pp. 1163-1169
    • Flint, J.1    Rochette, J.2    Craddock, C.F.3
  • 17
    • 0038406165 scopus 로고    scopus 로고
    • Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome
    • Heilstedt HA, Ballif BC, Howard LA et al. (2003a) Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet 72: 1200-1212.
    • (2003) Am J Hum Genet , vol.72 , pp. 1200-1212
    • Heilstedt, H.A.1    Ballif, B.C.2    Howard, L.A.3
  • 18
    • 0141955800 scopus 로고    scopus 로고
    • Population data suggest deletions of 1p36 are a relatively common chromosome abnormality
    • Heilstedt HA, Ballif BC, Howard LA et al. (2003b) Population data suggest deletions of 1p36 are a relatively common chromosome abnormality. Clin Genet 64: 310-316.
    • (2003) Clin Genet , vol.64 , pp. 310-316
    • Heilstedt, H.A.1    Ballif, B.C.2    Howard, L.A.3
  • 19
    • 0035080355 scopus 로고    scopus 로고
    • Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects
    • Horsley SW, Daniels RJ, Anguita E et al. (2001) Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects. Eur J Hum Genet 9: 217-225.
    • (2001) Eur J Hum Genet , vol.9 , pp. 217-225
    • Horsley, S.W.1    Daniels, R.J.2    Anguita, E.3
  • 20
    • 2042437650 scopus 로고    scopus 로고
    • Initial sequencing and analysis of the human genome
    • International Human Genome Sequencing Consortium (2001) Initial sequencing and analysis of the human genome. Nature 409: 860-921.
    • (2001) Nature , vol.409 , pp. 860-921
  • 21
    • 0032929028 scopus 로고    scopus 로고
    • An 18q-syndrome breakpoint resides between the duplicated serpins SCCA1 and SCCA2 and arises via a cryptic rearrangement with satellite III DNA
    • Katz SG, Schneider SS, Bartuski A et al. (1999) An 18q-syndrome breakpoint resides between the duplicated serpins SCCA1 and SCCA2 and arises via a cryptic rearrangement with satellite III DNA. Hum Mol Genet 8: 87-92.
    • (1999) Hum Mol Genet , vol.8 , pp. 87-92
    • Katz, S.G.1    Schneider, S.S.2    Bartuski, A.3
  • 22
    • 0034046292 scopus 로고    scopus 로고
    • Perfect endings: A review of subtelomeric probes and their use in clinical diagnosis
    • Knight SJ, Flint J (2000) Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis. J Med Genet 37: 401-409.
    • (2000) J Med Genet , vol.37 , pp. 401-409
    • Knight, S.J.1    Flint, J.2
  • 23
    • 0037178722 scopus 로고    scopus 로고
    • Maintenance of genome stability in Saccharomyces cerevisiae
    • Kolodner RD, Putnam CD, Myung K (2002) Maintenance of genome stability in Saccharomyces cerevisiae. Science 297: 552-557.
    • (2002) Science , vol.297 , pp. 552-557
    • Kolodner, R.D.1    Putnam, C.D.2    Myung, K.3
  • 24
    • 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
  • 25
    • 0037371163 scopus 로고    scopus 로고
    • The constitutional t(17;22): Another translocation mediated by palindromic AT-rich repeats
    • Kurahashi H, Shaikh T, Takata M, Toda T, Emanuel BS (2003) The constitutional t(17;22): Another translocation mediated by palindromic AT-rich repeats. Am J Hum Genet 72: 733-738.
    • (2003) Am J Hum Genet , vol.72 , pp. 733-738
    • Kurahashi, H.1    Shaikh, T.2    Takata, M.3    Toda, T.4    Emanuel, B.S.5
  • 28
    • 0027325817 scopus 로고
    • Telomere capture stabilizes chromosome breakage
    • Meltzer PS, Guan X-Y, Trent JM (1993) Telomere capture stabilizes chromosome breakage. Nat Genet 4: 252-255.
    • (1993) Nat Genet , vol.4 , pp. 252-255
    • Meltzer, P.S.1    Guan, X.-Y.2    Trent, J.M.3
  • 29
    • 0031092665 scopus 로고    scopus 로고
    • Nonhomologous Robertsonian translocations form predominantly during female meiosis
    • Page SL, Shaffer LG (1997) Nonhomologous Robertsonian translocations form predominantly during female meiosis. Nat Genet 15: 231-232.
    • (1997) Nat Genet , vol.15 , pp. 231-232
    • Page, S.L.1    Shaffer, L.G.2
  • 30
    • 0032472367 scopus 로고    scopus 로고
    • Interstitial deletions and intrachromosomal amplification initiated from a double-strand break targeted to a mammalian chromosome
    • Pipiras E, Coquelle A, Bieth A, Debatisse M (1998) Interstitial deletions and intrachromosomal amplification initiated from a double-strand break targeted to a mammalian chromosome. EMBO J 17: 325-333.
    • (1998) EMBO J , vol.17 , pp. 325-333
    • Pipiras, E.1    Coquelle, A.2    Bieth, A.3    Debatisse, M.4
  • 31
    • 0034621854 scopus 로고    scopus 로고
    • Frequent chromosomal translocations induced by DNA double-strand breaks
    • Richardson C, Jasin M (2000) Frequent chromosomal translocations induced by DNA double-strand breaks. Nature 2000 405: 697-700.
    • (2000) Nature 2000 , vol.405 , pp. 697-700
    • Richardson, C.1    Jasin, M.2
  • 32
    • 0034513406 scopus 로고    scopus 로고
    • Molecular mechanisms for constitutional chromosomal rearrangements in humans
    • Shaffer LG, Lupski JR (2000) Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet 34: 297-329.
    • (2000) Annu Rev Genet , vol.34 , pp. 297-329
    • Shaffer, L.G.1    Lupski, J.R.2
  • 33
    • 0030870848 scopus 로고    scopus 로고
    • Chromosome 1p36 deletions: The clinical phenotype and molecular characterization of a common newly delineated syndrome
    • Shapira SK, McCaskill C, Northrup H et al. (1997) Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 61: 642-650.
    • (1997) Am J Hum Genet , vol.61 , pp. 642-650
    • Shapira, S.K.1    McCaskill, C.2    Northrup, H.3
  • 34
    • 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
  • 35
    • 0033838428 scopus 로고    scopus 로고
    • Characterization of terminal deletions at 7q32 and 22q13.3 healed by de novo telomere addition
    • Varley H, Di S, Scherer SW, Royle NJ (2000) Characterization of terminal deletions at 7q32 and 22q13.3 healed by de novo telomere addition. Am J Hum Genet 67: 610-622.
    • (2000) Am J Hum Genet , vol.67 , pp. 610-622
    • Varley, H.1    Di, S.2    Scherer, S.W.3    Royle, N.J.4
  • 37
    • 0036166002 scopus 로고    scopus 로고
    • Use of inverse PCR to amplify and sequence breakpoints of HPRT deletion and translocation mutations
    • Williams M, Rainville IR, Nicklas JA (2002) Use of inverse PCR to amplify and sequence breakpoints of HPRT deletion and translocation mutations. Environ Mol Mutagen 39: 22-32.
    • (2002) Environ Mol Mutagen , vol.39 , pp. 22-32
    • Williams, M.1    Rainville, I.R.2    Nicklas, J.A.3
  • 38
    • 0031020786 scopus 로고    scopus 로고
    • Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation
    • Wong ACC, Ning Y, Flint J et al. (1997) Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation. Am J Hum Genet 60: 113-120.
    • (1997) Am J Hum Genet , vol.60 , pp. 113-120
    • Wong, A.C.C.1    Ning, Y.2    Flint, J.3
  • 39
    • 0029931203 scopus 로고    scopus 로고
    • DOP-vector PCR: A method for rapid isolation and sequencing of insert termini from PAC clones
    • Wu C, Zhu S, Simpson S, de Jong PJ (1996) DOP-vector PCR: a method for rapid isolation and sequencing of insert termini from PAC clones. Nucleic Acids Res 24: 2614-2615.
    • (1996) Nucleic Acids Res , vol.24 , pp. 2614-2615
    • Wu, C.1    Zhu, S.2    Simpson, S.3    De Jong, P.J.4
  • 40
    • 0032898935 scopus 로고    scopus 로고
    • Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions
    • Wu YQ, Heilstedt HA, Bedell JA et al. (1999) Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions. Hum Mol Genet 8: 313-321.
    • (1999) Hum Mol Genet , vol.8 , pp. 313-321
    • Wu, Y.Q.1    Heilstedt, H.A.2    Bedell, J.A.3
  • 41
    • 10744221541 scopus 로고    scopus 로고
    • Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
    • Yu W, Ballif BC, Kashork CD et al. (2003) Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. Hum Mol Genet 12: 2145-2152.
    • (2003) Hum Mol Genet , vol.12 , pp. 2145-2152
    • Yu, W.1    Ballif, B.C.2    Kashork, C.D.3


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