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Volumn 34, Issue 1, 2013, Pages 210-220

Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis

Author keywords

Genomic inversions; Inverted repeats; MMBIR; Segmental duplications

Indexed keywords

ARTICLE; CHROMOSOME INVERSION; GENE DISRUPTION; GENE DOSAGE; GENE DUPLICATION; GENE MAPPING; GENE REARRANGEMENT; GENETIC RISK; GENOME ANALYSIS; GENOMIC INSTABILITY; HUMAN; HUMAN GENOME; INVERSE PARALOGOUS LOW COPY REPEAT; INVERTED REPEAT; PRIORITY JOURNAL; SEQUENCE ANALYSIS; X CHROMOSOME;

EID: 84871622924     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22217     Document Type: Article
Times cited : (43)

References (102)
  • 5
    • 0036096037 scopus 로고    scopus 로고
    • Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A
    • Bagnall RD, Waseem N, Green PM, Giannelli F. 2002. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 99:168-174.
    • (2002) Blood , vol.99 , pp. 168-174
    • Bagnall, R.D.1    Waseem, N.2    Green, P.M.3    Giannelli, F.4
  • 6
    • 0034831138 scopus 로고    scopus 로고
    • Segmental duplications: organization and impact within the current human genome project assembly
    • Bailey JA, Yavor AM, Massa HF, Trask BJ, Eichler EE. 2001. Segmental duplications: organization and impact within the current human genome project assembly. Genome Res 11:1005-1017.
    • (2001) Genome Res , vol.11 , pp. 1005-1017
    • Bailey, J.A.1    Yavor, A.M.2    Massa, H.F.3    Trask, B.J.4    Eichler, E.E.5
  • 10
    • 0028926890 scopus 로고
    • Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome
    • Bondeson ML, Dahl N, Malmgren H, Kleijer WJ, Tönnesen T, Carlberg BM, Pettersson U. 1995. Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Hum Mol Genet 4:615-621.
    • (1995) Hum Mol Genet , vol.4 , pp. 615-621
    • Bondeson, M.L.1    Dahl, N.2    Malmgren, H.3    Kleijer, W.J.4    Tönnesen, T.5    Carlberg, B.M.6    Pettersson, U.7
  • 14
    • 16244410158 scopus 로고    scopus 로고
    • A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9
    • Boyadjiev SA, South ST, Radford CL, Patel A, Zhang G, Hur DJ, Thomas GH, Gearhart JP, Stetten G. 2005. A reciprocal translocation 46, XY, t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9. Genomics 85:622-629.
    • (2005) Genomics , vol.85 , pp. 622-629
    • Boyadjiev, S.A.1    South, S.T.2    Radford, C.L.3    Patel, A.4    Zhang, G.5    Hur, D.J.6    Thomas, G.H.7    Gearhart, J.P.8    Stetten, G.9
  • 20
    • 0035093829 scopus 로고    scopus 로고
    • Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I
    • Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA. 2001. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet 27:309-312.
    • (2001) Nat Genet , vol.27 , pp. 309-312
    • Dawkins, J.L.1    Hulme, D.J.2    Brahmbhatt, S.B.3    Auer-Grumbach, M.4    Nicholson, G.A.5
  • 21
    • 2342506542 scopus 로고    scopus 로고
    • Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome
    • De Vos M, Hayward BE, Picton S, Sheridan E, Bonthron DT. 2004. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. Am J Hum Genet 74:954-964.
    • (2004) Am J Hum Genet , vol.74 , pp. 954-964
    • De Vos, M.1    Hayward, B.E.2    Picton, S.3    Sheridan, E.4    Bonthron, D.T.5
  • 28
    • 84871614294 scopus 로고
    • Generation of a non-functional Fanconi anemia group C protein (FACC) by site-directed in vitro mutagenesis
    • Gavish H, dos Santos CC, Buchwald M. 1992. Generation of a non-functional Fanconi anemia group C protein (FACC) by site-directed in vitro mutagenesis. (Abstract) Am J Hum Genet Suppl. 51:A128.
    • (1992) (Abstract) Am J Hum Genet , Issue.SUPPL. 51
    • Gavish, H.1    dos Santos, C.C.2    Buchwald, M.3
  • 29
    • 0036179821 scopus 로고    scopus 로고
    • CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle
    • Goldmuntz E, Bamford R, Karkera JD, dela Cruz J, Roessler E, Muenke M. 2002. CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet 70:776-780.
    • (2002) Am J Hum Genet , vol.70 , pp. 776-780
    • Goldmuntz, E.1    Bamford, R.2    Karkera, J.D.3    dela Cruz, J.4    Roessler, E.5    Muenke, M.6
  • 31
    • 59249105978 scopus 로고    scopus 로고
    • A microhomology-mediated break-induced replication model for the origin of human copy number variation
    • Hastings PJ, Ira G, Lupski JR. 2009. A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet 5:e1000327.
    • (2009) PLoS Genet , vol.5
    • Hastings, P.J.1    Ira, G.2    Lupski, J.R.3
  • 34
    • 0032527131 scopus 로고    scopus 로고
    • Rh(null) disease: the amorph type results from a novel double mutation in RhCe gene on D-negative background
    • Huang C-H, Chen Y, Reid ME, Seidl C. 1998. Rh(null) disease: the amorph type results from a novel double mutation in RhCe gene on D-negative background. Blood 92:664-671.
    • (1998) Blood , vol.92 , pp. 664-671
    • Huang, C.-H.1    Chen, Y.2    Reid, M.E.3    Seidl, C.4
  • 35
    • 78449263023 scopus 로고    scopus 로고
    • Characterising and predicting haploinsufficiency in the human genome
    • Huang N, Lee I, Marcotte EM, Hurles ME. 2010. Characterising and predicting haploinsufficiency in the human genome. PLoS Genet 66:e1001154.
    • (2010) PLoS Genet , vol.66
    • Huang, N.1    Lee, I.2    Marcotte, E.M.3    Hurles, M.E.4
  • 36
    • 0041305918 scopus 로고    scopus 로고
    • A two-locus gene conversion model with selection and its application to the human RHCE and RHD genes
    • Innan H. 2003. A two-locus gene conversion model with selection and its application to the human RHCE and RHD genes. Proc Natl Acad Sci USA 100:8793-8798.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 8793-8798
    • Innan, H.1
  • 39
    • 0343362695 scopus 로고    scopus 로고
    • Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human
    • Ji Y, Rebert NA, Joslin JM, Higgins MJ, Schultz RA, Nicholls RD. 2000. Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human. Genome Res 10:319-329.
    • (2000) Genome Res , vol.10 , pp. 319-329
    • Ji, Y.1    Rebert, N.A.2    Joslin, J.M.3    Higgins, M.J.4    Schultz, R.A.5    Nicholls, R.D.6
  • 46
    • 0027520025 scopus 로고
    • Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
    • Lakich D, Kazazian Jr HH, Antonarakis SE, Gitschier J. 1993. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 5:236-241.
    • (1993) Nat Genet , vol.5 , pp. 236-241
    • Lakich, D.1    Kazazian Jr., H.H.2    Antonarakis, S.E.3    Gitschier, J.4
  • 49
    • 37349109667 scopus 로고    scopus 로고
    • A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
    • Lee JA, Carvalho CM, Lupski JR. 2007. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131:1235-1247.
    • (2007) Cell , vol.131 , pp. 1235-1247
    • Lee, J.A.1    Carvalho, C.M.2    Lupski, J.R.3
  • 51
    • 84862491113 scopus 로고    scopus 로고
    • Mechanisms for recurrent and complex human genomic rearrangements
    • Liu P, Carvalho CM, Hastings P, Lupski JR. 2012. Mechanisms for recurrent and complex human genomic rearrangements. Curr Opin Genet Dev 22:211-220.
    • (2012) Curr Opin Genet Dev , vol.22 , pp. 211-220
    • Liu, P.1    Carvalho, C.M.2    Hastings, P.3    Lupski, J.R.4
  • 52
    • 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 PJ, Lupski JR. 2011. Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over. Am J Hum Genet 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
  • 54
    • 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 14:417-22.
    • (1998) Trends Genet , vol.14 , pp. 417-422
    • Lupski, J.R.1
  • 55
    • 33748286797 scopus 로고    scopus 로고
    • Genome structural variation and sporadic disease traits
    • Lupski JR. 2006. Genome structural variation and sporadic disease traits. Nat Genet 38: 974-976.
    • (2006) Nat Genet , vol.38 , pp. 974-976
    • Lupski, J.R.1
  • 56
    • 67649973564 scopus 로고    scopus 로고
    • Genomic disorders ten years on
    • Lupski JR. 2009. Genomic disorders ten years on. Genome Med 1:42.
    • (2009) Genome Med , vol.1 , pp. 42
    • Lupski, J.R.1
  • 61
    • 0027376685 scopus 로고
    • Characteristic mRNA abnormality found in half the patients with severe hemophilia A is due to large DNA inversions
    • Naylor J, Brinke A, Hassock S, Green PM, Giannelli F. 1993. Characteristic mRNA abnormality found in half the patients with severe hemophilia A is due to large DNA inversions. Hum Mol Genet 2:1773-1778.
    • (1993) Hum Mol Genet , vol.2 , pp. 1773-1778
    • Naylor, J.1    Brinke, A.2    Hassock, S.3    Green, P.M.4    Giannelli, F.5
  • 62
    • 0029047999 scopus 로고
    • Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions
    • Naylor JA, Buck D, Green P, Williamson H, Bentley D, Giannelli F. 1995. Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions. Hum Mol Genet 4:1217-1224.
    • (1995) Hum Mol Genet , vol.4 , pp. 1217-1224
    • Naylor, J.A.1    Buck, D.2    Green, P.3    Williamson, H.4    Bentley, D.5    Giannelli, F.6
  • 63
    • 0026730499 scopus 로고
    • Factor VIII gene explains all cases of hemophilia A
    • Naylor JA, Green PM, Rizza CR, Giannelli F. 1992. Factor VIII gene explains all cases of hemophilia A. Lancet 340:1066-1067.
    • (1992) Lancet , vol.340 , pp. 1066-1067
    • Naylor, J.A.1    Green, P.M.2    Rizza, C.R.3    Giannelli, F.4
  • 65
    • 0035161467 scopus 로고    scopus 로고
    • Autosomal recessive chronic granulomatous disease caused by defects in NCF1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF1 pseudogenes
    • Noack D, Rae J, Cross AR, Ellis BA, Newburger PE, Curnutte JT, Heyworth PG. 2001. Autosomal recessive chronic granulomatous disease caused by defects in NCF1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF1 pseudogenes. Blood 97:305-311.
    • (2001) Blood , vol.97 , pp. 305-311
    • Noack, D.1    Rae, J.2    Cross, A.R.3    Ellis, B.A.4    Newburger, P.E.5    Curnutte, J.T.6    Heyworth, P.G.7
  • 69
    • 0033396625 scopus 로고    scopus 로고
    • Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix
    • Pearce EG, Smith SK, Lanigan SW, Bowden PE. 1999. Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix. J Invest Derm 113:1123-1127.
    • (1999) J Invest Derm , vol.113 , pp. 1123-1127
    • Pearce, E.G.1    Smith, S.K.2    Lanigan, S.W.3    Bowden, P.E.4
  • 70
    • 21344433485 scopus 로고    scopus 로고
    • Expression and function of dipeptidyl-aminopeptidase-like protein 6 as a putative beta-subunit of human cardiac transient outward current encoded by Kv4.3
    • Radicke S, Cotella D, Graf EM, Ravens U, Wettwer E. 2005. Expression and function of dipeptidyl-aminopeptidase-like protein 6 as a putative beta-subunit of human cardiac transient outward current encoded by Kv4.3. J Physiol 565:751-756.
    • (2005) J Physiol , vol.565 , pp. 751-756
    • Radicke, S.1    Cotella, D.2    Graf, E.M.3    Ravens, U.4    Wettwer, E.5
  • 71
    • 0034653483 scopus 로고    scopus 로고
    • Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease
    • Roesler J, Curnutte JT, Rae J, Barrett D, Patino P, Chanock SJ, Goerlach A. 2000. Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease. Blood 95:2150-2156.
    • (2000) Blood , vol.95 , pp. 2150-2156
    • Roesler, J.1    Curnutte, J.T.2    Rae, J.3    Barrett, D.4    Patino, P.5    Chanock, S.J.6    Goerlach, A.7
  • 74
    • 79951572831 scopus 로고    scopus 로고
    • Haploinsufficiency of Gtf2i, a gene deleted in Williams -Syndrome, leads to increases in social interactions
    • Sakurai T, Dorr NP, Takahashi N, McInnes LA, Elder GA, Buxbaum JD. 2011. Haploinsufficiency of Gtf2i, a gene deleted in Williams -Syndrome, leads to increases in social interactions. Autism Res 4:28-39.
    • (2011) Autism Res , vol.4 , pp. 28-39
    • Sakurai, T.1    Dorr, N.P.2    Takahashi, N.3    McInnes, L.A.4    Elder, G.A.5    Buxbaum, J.D.6
  • 77
    • 84862227825 scopus 로고    scopus 로고
    • Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region
    • Shimojima K, Mano T, Kashiwagi M, Tanabe T, Sugawara M, Okamoto N, Arai H, Yamamoto T. 2012. Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region. Eur J Med Genet 55:400-403.
    • (2012) Eur J Med Genet , vol.55 , pp. 400-403
    • Shimojima, K.1    Mano, T.2    Kashiwagi, M.3    Tanabe, T.4    Sugawara, M.5    Okamoto, N.6    Arai, H.7    Yamamoto, T.8
  • 78
    • 0021129146 scopus 로고
    • Sorbitol dehydrogenase deficiency in a family with congenital cataracts
    • Shin YS, Rieth M, Endres W. 1984. Sorbitol dehydrogenase deficiency in a family with congenital cataracts. J Inherit Metab Dis 7 Suppl. 2:151-152.
    • (1984) J Inherit Metab Dis 7 Suppl , vol.2 , pp. 151-152
    • Shin, Y.S.1    Rieth, M.2    Endres, W.3
  • 81
    • 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
  • 83
    • 0026521238 scopus 로고
    • Cloning of cDNAs for Fanconi's anaemia by functional complementation
    • Strathdee CA, Gavish H, Shannon WR, Buchwald M. 1992. Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature 356:763-767.
    • (1992) Nature , vol.356 , pp. 763-767
    • Strathdee, C.A.1    Gavish, H.2    Shannon, W.R.3    Buchwald, M.4
  • 89
    • 84856280414 scopus 로고    scopus 로고
    • Microdeletion and microduplication syndromes
    • Feuk L, editor. New York: Springer
    • Vissers LE, Stankiewicz P. 2012. Microdeletion and microduplication syndromes. In: Feuk L, editor Genomic structural variants. New York: Springer. p 29-75.
    • (2012) Genomic structural variants , pp. 29-75
    • Vissers, L.E.1    Stankiewicz, P.2
  • 90
    • 65249104138 scopus 로고    scopus 로고
    • Checkpoint responses to unusual structures formed by DNA repeats
    • Voineagu I, Freudenreich CH, Mirkin SM. 2009. Checkpoint responses to unusual structures formed by DNA repeats. Mol Carcinogen 48309-318.
    • (2009) Mol Carcinogen , pp. 48309-48318
    • Voineagu, I.1    Freudenreich, C.H.2    Mirkin, S.M.3
  • 91
    • 48249141027 scopus 로고    scopus 로고
    • Replication stalling at unstable inverted repeats: interplay between DNA hairpins and fork stabilizing proteins
    • Voineagu I, Narayanan V, Lobachev KS, Mirkin SM. 2008. Replication stalling at unstable inverted repeats: interplay between DNA hairpins and fork stabilizing proteins. Proc Natl Acad Sci USA 105:9936-9941.
    • (2008) Proc Natl Acad Sci USA , vol.105 , pp. 9936-9941
    • Voineagu, I.1    Narayanan, V.2    Lobachev, K.S.3    Mirkin, S.M.4
  • 92
    • 0027498398 scopus 로고
    • In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease
    • Volpp BD, Lin Y. 1993. In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease. J Clin Invest 91:201-207.
    • (1993) J Clin Invest , vol.91 , pp. 201-207
    • Volpp, B.D.1    Lin, Y.2
  • 95
    • 6344289639 scopus 로고    scopus 로고
    • Inverted repeat structure of the human genome: the X-chromosome contains a preponderance of large, highly homologous inverted repeats that contain testes genes
    • Warburton PE, Giordano J, Cheung F, Gelfand Y, Benson G. 2004. Inverted repeat structure of the human genome: the X-chromosome contains a preponderance of large, highly homologous inverted repeats that contain testes genes. Genome Res 14:1861-1869.
    • (2004) Genome Res , vol.14 , pp. 1861-1869
    • Warburton, P.E.1    Giordano, J.2    Cheung, F.3    Gelfand, Y.4    Benson, G.5
  • 97
    • 0034089717 scopus 로고    scopus 로고
    • A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix
    • Winter H, Vabres P, Larregue M, Rogers MA, Schweizer J. 2000. A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix. Hum Hered 50:322-324.
    • (2000) Hum Hered , vol.50 , pp. 322-324
    • Winter, H.1    Vabres, P.2    Larregue, M.3    Rogers, M.A.4    Schweizer, J.5
  • 98
    • 67249150968 scopus 로고    scopus 로고
    • Functional polymorphisms, altered gene expression and genetic association link NRH:quinone oxidoreductase 2 to breast cancer with wild-type p53
    • Yu KD, Di GH, Yuan WT, Fan L, Wu J, Hu Z, Shen ZZ, Zheng Y, Huang W, Shao ZM. 2009. Functional polymorphisms, altered gene expression and genetic association link NRH:quinone oxidoreductase 2 to breast cancer with wild-type p53. Hum Mol Genet 18:2502-2517.
    • (2009) Hum Mol Genet , vol.18 , pp. 2502-2517
    • Yu, K.D.1    Di, G.H.2    Yuan, W.T.3    Fan, L.4    Wu, J.5    Hu, Z.6    Shen, Z.Z.7    Zheng, Y.8    Huang, W.9    Shao, Z.M.10
  • 100
    • 77149125896 scopus 로고    scopus 로고
    • Systematic analysis, comparison, and integration of disease based human genetic association data and mouse genetic phenotypic information
    • Zhang Y, De S, Garner JR, Smith K, Wang SA, Becker KG. 2010. Systematic analysis, comparison, and integration of disease based human genetic association data and mouse genetic phenotypic information. BMC Med Genomics 3:1.
    • (2010) BMC Med Genomics , vol.3 , pp. 1
    • Zhang, Y.1    De, S.2    Garner, J.R.3    Smith, K.4    Wang, S.A.5    Becker, K.G.6
  • 101
    • 33751527925 scopus 로고    scopus 로고
    • Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome
    • Zhang J, Feuk L, Duggan GE, Khaja R, Scherer SW. 2006. Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome. Cytogenet Genome Res 115:205-214.
    • (2006) Cytogenet Genome Res , vol.115 , pp. 205-214
    • Zhang, J.1    Feuk, L.2    Duggan, G.E.3    Khaja, R.4    Scherer, S.W.5


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