메뉴 건너뛰기




Volumn 22, Issue 3, 2012, Pages 211-220

Mechanisms for recurrent and complex human genomic rearrangements

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; PR DOMAIN CONTAINING PROTEIN 9; UNCLASSIFIED DRUG;

EID: 84862491113     PISSN: 0959437X     EISSN: 18790380     Source Type: Journal    
DOI: 10.1016/j.gde.2012.02.012     Document Type: Review
Times cited : (266)

References (76)
  • 1
    • 76549100511 scopus 로고    scopus 로고
    • Evolution in health and medicine Sackler colloquium: genomic disorders: a window into human gene and genome evolution
    • Carvalho C.M., Zhang F., Lupski J.R. Evolution in health and medicine Sackler colloquium: genomic disorders: a window into human gene and genome evolution. Proc Natl Acad Sci U S A 2010, 107(Suppl. 1):1765-1771.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , Issue.SUPPL. 1 , pp. 1765-1771
    • Carvalho, C.M.1    Zhang, F.2    Lupski, J.R.3
  • 2
    • 0031731487 scopus 로고    scopus 로고
    • Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits
    • Lupski J.R. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 1998, 14:417-422.
    • (1998) Trends Genet , vol.14 , pp. 417-422
    • Lupski, J.R.1
  • 6
    • 67649973564 scopus 로고    scopus 로고
    • Genomic disorders ten years on
    • Lupski J.R. Genomic disorders ten years on. Genome Med 2009, 1:42.
    • (2009) Genome Med , vol.1 , pp. 42
    • Lupski, J.R.1
  • 8
    • 33746167778 scopus 로고    scopus 로고
    • Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
    • Shaffer L.G., Kashork C.D., Saleki R., Rorem E., Sundin K., Ballif B.C., Bejjani B.A. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 2006, 149:98-102.
    • (2006) J Pediatr , vol.149 , pp. 98-102
    • Shaffer, L.G.1    Kashork, C.D.2    Saleki, R.3    Rorem, E.4    Sundin, K.5    Ballif, B.C.6    Bejjani, B.A.7
  • 10
    • 0036468807 scopus 로고    scopus 로고
    • Genome architecture, rearrangements and genomic disorders
    • Stankiewicz P., Lupski J.R. Genome architecture, rearrangements and genomic disorders. Trends Genet 2002, 18:74-82.
    • (2002) Trends Genet , vol.18 , pp. 74-82
    • Stankiewicz, P.1    Lupski, J.R.2
  • 13
    • 9144264835 scopus 로고    scopus 로고
    • The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats
    • Barbouti A., Stankiewicz P., Nusbaum C., Cuomo C., Cook A., Hoglund M., Johansson B., Hagemeijer A., Park S.S., Mitelman F., et al. The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats. Am J Hum Genet 2004, 74:1-10.
    • (2004) Am J Hum Genet , vol.74 , pp. 1-10
    • Barbouti, A.1    Stankiewicz, P.2    Nusbaum, C.3    Cuomo, C.4    Cook, A.5    Hoglund, M.6    Johansson, B.7    Hagemeijer, A.8    Park, S.S.9    Mitelman, F.10
  • 18
    • 0027017033 scopus 로고
    • Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5Mb monomer unit
    • Pentao L., Wise C.A., Chinault A.C., Patel P.I., Lupski J.R. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5Mb monomer unit. Nat Genet 1992, 2:292-300.
    • (1992) Nat Genet , vol.2 , pp. 292-300
    • Pentao, L.1    Wise, C.A.2    Chinault, A.C.3    Patel, P.I.4    Lupski, J.R.5
  • 19
    • 0030881588 scopus 로고    scopus 로고
    • Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
    • Chen K.S., Manian P., Koeuth T., Potocki L., Zhao Q., Chinault A.C., Lee C.C., Lupski J.R. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 1997, 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
  • 20
    • 80053908833 scopus 로고    scopus 로고
    • Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over
    • Liu P., Lacaria M., Zhang F., Withers M., Hastings P.J., Lupski J.R. Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over. Am J Hum Genet 2011, 89:580-588.
    • (2011) Am J Hum Genet , vol.89 , pp. 580-588
    • Liu, P.1    Lacaria, M.2    Zhang, F.3    Withers, M.4    Hastings, P.J.5    Lupski, J.R.6
  • 21
    • 0027231111 scopus 로고
    • Substrate length requirements for efficient mitotic recombination in Saccharomyces cerevisiae
    • Jinks-Robertson S., Michelitch M., Ramcharan S. Substrate length requirements for efficient mitotic recombination in Saccharomyces cerevisiae. Mol Cell Biol 1993, 13:3937-3950.
    • (1993) Mol Cell Biol , vol.13 , pp. 3937-3950
    • Jinks-Robertson, S.1    Michelitch, M.2    Ramcharan, S.3
  • 22
    • 0023114469 scopus 로고
    • Homology requirement for efficient gene conversion between duplicated chromosomal sequences in mammalian cells
    • Liskay R.M., Letsou A., Stachelek J.L. Homology requirement for efficient gene conversion between duplicated chromosomal sequences in mammalian cells. Genetics 1987, 115:161-167.
    • (1987) Genetics , vol.115 , pp. 161-167
    • Liskay, R.M.1    Letsou, A.2    Stachelek, J.L.3
  • 23
    • 50449088155 scopus 로고    scopus 로고
    • A common sequence motif associated with recombination hot spots and genome instability in humans
    • Myers S., Freeman C., Auton A., Donnelly P., McVean G. A common sequence motif associated with recombination hot spots and genome instability in humans. Nat Genet 2008, 40:1124-1129.
    • (2008) Nat Genet , vol.40 , pp. 1124-1129
    • Myers, S.1    Freeman, C.2    Auton, A.3    Donnelly, P.4    McVean, G.5
  • 24
    • 0141540814 scopus 로고    scopus 로고
    • A molecular throttle: the recombination hotspot chi controls DNA translocation by the RecBCD helicase
    • Spies M., Bianco P.R., Dillingham M.S., Handa N., Baskin R.J., Kowalczykowski S.C. A molecular throttle: the recombination hotspot chi controls DNA translocation by the RecBCD helicase. Cell 2003, 114:647-654.
    • (2003) Cell , vol.114 , pp. 647-654
    • Spies, M.1    Bianco, P.R.2    Dillingham, M.S.3    Handa, N.4    Baskin, R.J.5    Kowalczykowski, S.C.6
  • 27
    • 8444225364 scopus 로고    scopus 로고
    • Hotspots of homologous recombination in the human genome: not all homologous sequences are equal
    • Lupski J.R. Hotspots of homologous recombination in the human genome: not all homologous sequences are equal. Genome Biol 2004, 5:242.
    • (2004) Genome Biol , vol.5 , pp. 242
    • Lupski, J.R.1
  • 28
    • 33749056284 scopus 로고    scopus 로고
    • A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination
    • Lindsay S.J., Khajavi M., Lupski J.R., Hurles M.E. A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination. Am J Hum Genet 2006, 79:890-902.
    • (2006) Am J Hum Genet , vol.79 , pp. 890-902
    • Lindsay, S.J.1    Khajavi, M.2    Lupski, J.R.3    Hurles, M.E.4
  • 29
    • 33751526542 scopus 로고    scopus 로고
    • New insights into the biological basis of genomic disorders
    • Myers S.R., McCarroll S.A. New insights into the biological basis of genomic disorders. Nat Genet 2006, 38:1363-1364.
    • (2006) Nat Genet , vol.38 , pp. 1363-1364
    • Myers, S.R.1    McCarroll, S.A.2
  • 33
    • 76749151934 scopus 로고    scopus 로고
    • Prdm9 controls activation of mammalian recombination hotspots
    • Parvanov E.D., Petkov P.M., Paigen K. Prdm9 controls activation of mammalian recombination hotspots. Science 2010, 327:835.
    • (2010) Science , vol.327 , pp. 835
    • Parvanov, E.D.1    Petkov, P.M.2    Paigen, K.3
  • 34
    • 77957579303 scopus 로고    scopus 로고
    • PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans
    • Berg I.L., Neumann R., Lam K.W., Sarbajna S., Odenthal-Hesse L., May C.A., Jeffreys A.J. PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans. Nat Genet 2010, 42:859-863.
    • (2010) Nat Genet , vol.42 , pp. 859-863
    • Berg, I.L.1    Neumann, R.2    Lam, K.W.3    Sarbajna, S.4    Odenthal-Hesse, L.5    May, C.A.6    Jeffreys, A.J.7
  • 35
    • 79961097286 scopus 로고    scopus 로고
    • Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations
    • Berg I.L., Neumann R., Sarbajna S., Odenthal-Hesse L., Butler N.J., Jeffreys A.J. Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations. Proc Natl Acad Sci U S A 2011, 108:12378-12383.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 12378-12383
    • Berg, I.L.1    Neumann, R.2    Sarbajna, S.3    Odenthal-Hesse, L.4    Butler, N.J.5    Jeffreys, A.J.6
  • 36
    • 0021979069 scopus 로고
    • Hypervariable 'minisatellite' regions in human DNA
    • Jeffreys A.J., Wilson V., Thein S.L. Hypervariable 'minisatellite' regions in human DNA. Nature 1985, 314:67-73.
    • (1985) Nature , vol.314 , pp. 67-73
    • Jeffreys, A.J.1    Wilson, V.2    Thein, S.L.3
  • 37
    • 0000842626 scopus 로고
    • The Bar " Gene" a duplication
    • Bridges C.B. The Bar " Gene" a duplication. Science 1936, 83:210-211.
    • (1936) Science , vol.83 , pp. 210-211
    • Bridges, C.B.1
  • 39
    • 37349109667 scopus 로고    scopus 로고
    • A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
    • Lee J.A., Carvalho C.M., Lupski J.R. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 2007, 131:1235-1247.
    • (2007) Cell , vol.131 , pp. 1235-1247
    • Lee, J.A.1    Carvalho, C.M.2    Lupski, J.R.3
  • 41
    • 59249105978 scopus 로고    scopus 로고
    • A microhomology-mediated break-induced replication model for the origin of human copy number variation
    • Hastings P.J., Ira G., Lupski J.R. A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet 2009, 5:e1000327.
    • (2009) PLoS Genet , vol.5
    • Hastings, P.J.1    Ira, G.2    Lupski, J.R.3
  • 42
    • 34247611513 scopus 로고    scopus 로고
    • Template switching during break-induced replication
    • Smith C.E., Llorente B., Symington L.S. Template switching during break-induced replication. Nature 2007, 447:102-105.
    • (2007) Nature , vol.447 , pp. 102-105
    • Smith, C.E.1    Llorente, B.2    Symington, L.S.3
  • 43
    • 34547927220 scopus 로고    scopus 로고
    • Break-induced replication and telomerase-independent telomere maintenance require Pol32
    • Lydeard J.R., Jain S., Yamaguchi M., Haber J.E. Break-induced replication and telomerase-independent telomere maintenance require Pol32. Nature 2007, 448:820-823.
    • (2007) Nature , vol.448 , pp. 820-823
    • Lydeard, J.R.1    Jain, S.2    Yamaguchi, M.3    Haber, J.E.4
  • 44
    • 0030760609 scopus 로고    scopus 로고
    • " Break copy" duplication: a model for chromosome fragment formation in Saccharomyces cerevisiae
    • Morrow D.M., Connelly C., Hieter P. " Break copy" duplication: a model for chromosome fragment formation in Saccharomyces cerevisiae. Genetics 1997, 147:371-382.
    • (1997) Genetics , vol.147 , pp. 371-382
    • Morrow, D.M.1    Connelly, C.2    Hieter, P.3
  • 45
    • 0029947714 scopus 로고    scopus 로고
    • Double-strand break repair in the absence of RAD51 in yeast: a possible role for break-induced DNA replication
    • Malkova A., Ivanov E.L., Haber J.E. Double-strand break repair in the absence of RAD51 in yeast: a possible role for break-induced DNA replication. Proc Natl Acad Sci U S A 1996, 93:7131-7136.
    • (1996) Proc Natl Acad Sci U S A , vol.93 , pp. 7131-7136
    • Malkova, A.1    Ivanov, E.L.2    Haber, J.E.3
  • 46
    • 0032426554 scopus 로고    scopus 로고
    • Recombination and recombination-dependent DNA replication in bacteriophage T4
    • Mosig G. Recombination and recombination-dependent DNA replication in bacteriophage T4. Annu Rev Genet 1998, 32:379-413.
    • (1998) Annu Rev Genet , vol.32 , pp. 379-413
    • Mosig, G.1
  • 49
    • 61549098717 scopus 로고    scopus 로고
    • Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants
    • Arlt M.F., Mulle J.G., Schaibley V.M., Ragland R.L., Durkin S.G., Warren S.T., Glover T.W. Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants. Am J Hum Genet 2009, 84:339-350.
    • (2009) Am J Hum Genet , vol.84 , pp. 339-350
    • Arlt, M.F.1    Mulle, J.G.2    Schaibley, V.M.3    Ragland, R.L.4    Durkin, S.G.5    Warren, S.T.6    Glover, T.W.7
  • 50
    • 83255189766 scopus 로고    scopus 로고
    • Dna replication timing and long-range DNA interactions predict mutational landscapes of cancer genomes
    • De S., Michor F. Dna replication timing and long-range DNA interactions predict mutational landscapes of cancer genomes. Nat Biotechnol 2011, 29:1103-1108.
    • (2011) Nat Biotechnol , vol.29 , pp. 1103-1108
    • De, S.1    Michor, F.2
  • 51
    • 83255165727 scopus 로고    scopus 로고
    • High order chromatin architecture shapes the landscape of chromosomal alterations in cancer
    • Fudenberg G., Getz G., Meyerson M., Mirny L. High order chromatin architecture shapes the landscape of chromosomal alterations in cancer. Nat Biotechnol 2011, 29:1109-1113.
    • (2011) Nat Biotechnol , vol.29 , pp. 1109-1113
    • Fudenberg, G.1    Getz, G.2    Meyerson, M.3    Mirny, L.4
  • 55
    • 67649878596 scopus 로고    scopus 로고
    • The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans
    • Zhang F., Khajavi M., Connolly A.M., Towne C.F., Batish S.D., Lupski J.R. The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet 2009, 41:849-853.
    • (2009) Nat Genet , vol.41 , pp. 849-853
    • Zhang, F.1    Khajavi, M.2    Connolly, A.M.3    Towne, C.F.4    Batish, S.D.5    Lupski, J.R.6
  • 57
    • 34447536139 scopus 로고    scopus 로고
    • BLM ortholog, Sgs1, prevents aberrant crossing-over by suppressing formation of multichromatid joint molecules
    • Oh S.D., Lao J.P., Hwang P.Y., Taylor A.F., Smith G.R., Hunter N. BLM ortholog, Sgs1, prevents aberrant crossing-over by suppressing formation of multichromatid joint molecules. Cell 2007, 130:259-272.
    • (2007) Cell , vol.130 , pp. 259-272
    • Oh, S.D.1    Lao, J.P.2    Hwang, P.Y.3    Taylor, A.F.4    Smith, G.R.5    Hunter, N.6
  • 66
    • 52949143512 scopus 로고    scopus 로고
    • Segmental duplications arise from Pol32-dependent repair of broken forks through two alternative replication-based mechanisms
    • Payen C., Koszul R., Dujon B., Fischer G. Segmental duplications arise from Pol32-dependent repair of broken forks through two alternative replication-based mechanisms. PLoS Genet 2008, 4:e1000175.
    • (2008) PLoS Genet , vol.4
    • Payen, C.1    Koszul, R.2    Dujon, B.3    Fischer, G.4
  • 67
    • 0027520025 scopus 로고
    • Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
    • Lakich D., Kazazian H.H., Antonarakis S.E., Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 1993, 5:236-241.
    • (1993) Nat Genet , vol.5 , pp. 236-241
    • Lakich, D.1    Kazazian, H.H.2    Antonarakis, S.E.3    Gitschier, J.4
  • 76
    • 0034641881 scopus 로고    scopus 로고
    • Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events
    • Kamp C., Hirschmann P., Voss H., Huellen K., Vogt P.H. Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. Hum Mol Genet 2000, 9:2563-2572.
    • (2000) Hum Mol Genet , vol.9 , pp. 2563-2572
    • Kamp, C.1    Hirschmann, P.2    Voss, H.3    Huellen, K.4    Vogt, P.H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.