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Volumn 11, Issue 12, 2015, Pages

Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; NPHP1 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

EID: 84953280192     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1005686     Document Type: Article
Times cited : (20)

References (71)
  • 1
    • 33751329250 scopus 로고    scopus 로고
    • Global variation in copy number in the human genome
    • Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, et al. (2006) Global variation in copy number in the human genome. Nature 444: 444–454. 17122850
    • (2006) Nature , vol.444 , pp. 444-454
    • Redon, R.1    Ishikawa, S.2    Fitch, K.R.3    Feuk, L.4    Perry, G.H.5
  • 2
    • 77950461601 scopus 로고    scopus 로고
    • Origins and functional impact of copy number variation in the human genome
    • Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, et al. (2010) Origins and functional impact of copy number variation in the human genome. Nature 464: 704–712. doi: 10.1038/nature08516 19812545
    • (2010) Nature , vol.464 , pp. 704-712
    • Conrad, D.F.1    Pinto, D.2    Redon, R.3    Feuk, L.4    Gokcumen, O.5
  • 3
    • 70350221909 scopus 로고    scopus 로고
    • Copy number variation in human health, disease, and evolution
    • Zhang F, Gu W, Hurles ME, Lupski JR, (2009) Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet 10: 451–481. doi: 10.1146/annurev.genom.9.081307.164217 19715442
    • (2009) Annu Rev Genomics Hum Genet , vol.10 , pp. 451-481
    • Zhang, F.1    Gu, W.2    Hurles, M.E.3    Lupski, J.R.4
  • 4
    • 84862491113 scopus 로고    scopus 로고
    • Mechanisms for recurrent and complex human genomic rearrangements
    • Liu P, Carvalho CM, Hastings PJ, Lupski JR, (2012) Mechanisms for recurrent and complex human genomic rearrangements. Curr Opin Genet Dev 22: 211–220. doi: 10.1016/j.gde.2012.02.012 22440479
    • (2012) Curr Opin Genet Dev , vol.22 , pp. 211-220
    • Liu, P.1    Carvalho, C.M.2    Hastings, P.J.3    Lupski, J.R.4
  • 5
    • 84883679009 scopus 로고    scopus 로고
    • NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits
    • Dittwald P, Gambin T, Szafranski P, Li J, Amato S, et al. (2013) NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res 23: 1395–1409. doi: 10.1101/gr.152454.112 23657883
    • (2013) Genome Res , vol.23 , pp. 1395-1409
    • Dittwald, P.1    Gambin, T.2    Szafranski, P.3    Li, J.4    Amato, S.5
  • 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. 11381028
    • (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
  • 7
    • 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. 9820031
    • (1998) Trends Genet , vol.14 , pp. 417-422
    • Lupski, J.R.1
  • 8
    • 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. 11818139
    • (2002) Trends Genet , vol.18 , pp. 74-82
    • Stankiewicz, P.1    Lupski, J.R.2
  • 9
    • 84881159598 scopus 로고    scopus 로고
    • Great ape genetic diversity and population history
    • Prado-Martinez J, Sudmant PH, Kidd JM, Li H, Kelley JL, et al. (2013) Great ape genetic diversity and population history. Nature 499: 471–475. doi: 10.1038/nature12228 23823723
    • (2013) Nature , vol.499 , pp. 471-475
    • Prado-Martinez, J.1    Sudmant, P.H.2    Kidd, J.M.3    Li, H.4    Kelley, J.L.5
  • 10
    • 84871622924 scopus 로고    scopus 로고
    • Inverted low-copy repeats and genome instability—a genome-wide analysis
    • Dittwald P, Gambin T, Gonzaga-Jauregui C, Carvalho CM, Lupski JR, et al. (2013) Inverted low-copy repeats and genome instability—a genome-wide analysis. Hum Mutat 34: 210–220. doi: 10.1002/humu.22217 22965494
    • (2013) Hum Mutat , vol.34 , pp. 210-220
    • Dittwald, P.1    Gambin, T.2    Gonzaga-Jauregui, C.3    Carvalho, C.M.4    Lupski, J.R.5
  • 11
    • 84878933234 scopus 로고    scopus 로고
    • Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms
    • Zhou W, Zhang F, Chen X, Shen Y, Lupski JR, et al. (2013) Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms. Hum Mol Genet 22: 2642–2651. doi: 10.1093/hmg/ddt113 23474816
    • (2013) Hum Mol Genet , vol.22 , pp. 2642-2651
    • Zhou, W.1    Zhang, F.2    Chen, X.3    Shen, Y.4    Lupski, J.R.5
  • 12
    • 79251493015 scopus 로고    scopus 로고
    • A human genome structural variation sequencing resource reveals insights into mutational mechanisms
    • Kidd JM, Graves T, Newman TL, Fulton R, Hayden HS, et al. (2010) A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Cell 143: 837–847. doi: 10.1016/j.cell.2010.10.027 21111241
    • (2010) Cell , vol.143 , pp. 837-847
    • Kidd, J.M.1    Graves, T.2    Newman, T.L.3    Fulton, R.4    Hayden, H.S.5
  • 13
    • 77951722727 scopus 로고    scopus 로고
    • Genomic and clinical characteristics of microduplications in chromosome 17
    • Shchelochkov OA, Cheung SW, Lupski JR, (2010) Genomic and clinical characteristics of microduplications in chromosome 17. Am J Med Genet A 152A: 1101–1110. doi: 10.1002/ajmg.a.33248 20425816
    • (2010) Am J Med Genet A , vol.152A , pp. 1101-1110
    • Shchelochkov, O.A.1    Cheung, S.W.2    Lupski, J.R.3
  • 14
    • 77949275125 scopus 로고    scopus 로고
    • Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS
    • Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, et al. (2010) Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am J Hum Genet 86: 462–470. doi: 10.1016/j.ajhg.2010.02.001 20188345
    • (2010) Am J Hum Genet , vol.86 , pp. 462-470
    • Zhang, F.1    Potocki, L.2    Sampson, J.B.3    Liu, P.4    Sanchez-Valle, A.5
  • 15
    • 0033987366 scopus 로고    scopus 로고
    • Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion
    • Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, et al. (2000) Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 24: 84–87. 10615134
    • (2000) Nat Genet , vol.24 , pp. 84-87
    • Potocki, L.1    Chen, K.S.2    Park, S.S.3    Osterholm, D.E.4    Withers, M.A.5
  • 16
    • 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, 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. 9326934
    • (1997) Nat Genet , vol.17 , pp. 154-163
    • Chen, K.S.1    Manian, P.2    Koeuth, T.3    Potocki, L.4    Zhao, Q.5
  • 17
    • 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, et al. (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. doi: 10.1016/j.ajhg.2011.09.009 21981782
    • (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
  • 18
    • 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, et al. (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. 14639526
    • (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
  • 19
    • 84860860685 scopus 로고    scopus 로고
    • Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication
    • Dennis MY, Nuttle X, Sudmant PH, Antonacci F, Graves TA, et al. (2012) Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. Cell 149: 912–922. doi: 10.1016/j.cell.2012.03.033 22559943
    • (2012) Cell , vol.149 , pp. 912-922
    • Dennis, M.Y.1    Nuttle, X.2    Sudmant, P.H.3    Antonacci, F.4    Graves, T.A.5
  • 20
    • 33745373606 scopus 로고    scopus 로고
    • Primate segmental duplications: crucibles of evolution, diversity and disease
    • Bailey JA, Eichler EE, (2006) Primate segmental duplications: crucibles of evolution, diversity and disease. Nat Rev Genet 7: 552–564. 16770338
    • (2006) Nat Rev Genet , vol.7 , pp. 552-564
    • Bailey, J.A.1    Eichler, E.E.2
  • 21
    • 34548448436 scopus 로고    scopus 로고
    • Gene copy number variation spanning 60 million years of human and primate evolution
    • Dumas L, Kim YH, Karimpour-Fard A, Cox M, Hopkins J, et al. (2007) Gene copy number variation spanning 60 million years of human and primate evolution. Genome Res 17: 1266–1277. 17666543
    • (2007) Genome Res , vol.17 , pp. 1266-1277
    • Dumas, L.1    Kim, Y.H.2    Karimpour-Fard, A.3    Cox, M.4    Hopkins, J.5
  • 22
    • 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. 16941003
    • (2006) Nat Genet , vol.38 , pp. 974-976
    • Lupski, J.R.1
  • 23
    • 84866056199 scopus 로고    scopus 로고
    • DUF1220-domain copy number implicated in human brain-size pathology and evolution
    • Dumas LJ, O'Bleness MS, Davis JM, Dickens CM, Anderson N, et al. (2012) DUF1220-domain copy number implicated in human brain-size pathology and evolution. Am J Hum Genet 91: 444–454. doi: 10.1016/j.ajhg.2012.07.016 22901949
    • (2012) Am J Hum Genet , vol.91 , pp. 444-454
    • Dumas, L.J.1    O'Bleness, M.S.2    Davis, J.M.3    Dickens, C.M.4    Anderson, N.5
  • 25
    • 0037047628 scopus 로고    scopus 로고
    • Recent segmental duplications in the human genome
    • Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, et al. (2002) Recent segmental duplications in the human genome. Science 297: 1003–1007. 12169732
    • (2002) Science , vol.297 , pp. 1003-1007
    • Bailey, J.A.1    Gu, Z.2    Clark, R.A.3    Reinert, K.4    Samonte, R.V.5
  • 26
    • 36849037818 scopus 로고    scopus 로고
    • An evolution revolution provides further revelation
    • Lupski JR, (2007) An evolution revolution provides further revelation. Bioessays 29: 1182–1184. 18008371
    • (2007) Bioessays , vol.29 , pp. 1182-1184
    • Lupski, J.R.1
  • 27
    • 84864407091 scopus 로고    scopus 로고
    • Structural diversity and African origin of the 17q21.31 inversion polymorphism
    • Steinberg KM, Antonacci F, Sudmant PH, Kidd JM, Campbell CD, et al. (2012) Structural diversity and African origin of the 17q21.31 inversion polymorphism. Nat Genet 44: 872–880. doi: 10.1038/ng.2335 22751100
    • (2012) Nat Genet , vol.44 , pp. 872-880
    • Steinberg, K.M.1    Antonacci, F.2    Sudmant, P.H.3    Kidd, J.M.4    Campbell, C.D.5
  • 28
    • 50449104624 scopus 로고    scopus 로고
    • Evolutionary toggling of the MAPT 17q21.31 inversion region
    • Zody MC, Jiang Z, Fung HC, Antonacci F, Hillier LW, et al. (2008) Evolutionary toggling of the MAPT 17q21.31 inversion region. Nat Genet 40: 1076–1083. doi: 10.1038/ng.193 19165922
    • (2008) Nat Genet , vol.40 , pp. 1076-1083
    • Zody, M.C.1    Jiang, Z.2    Fung, H.C.3    Antonacci, F.4    Hillier, L.W.5
  • 29
    • 77956645877 scopus 로고    scopus 로고
    • A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk
    • Antonacci F, Kidd JM, Marques-Bonet T, Teague B, Ventura M, et al. (2010) A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nat Genet 42: 745–750. doi: 10.1038/ng.643 20729854
    • (2010) Nat Genet , vol.42 , pp. 745-750
    • Antonacci, F.1    Kidd, J.M.2    Marques-Bonet, T.3    Teague, B.4    Ventura, M.5
  • 30
    • 0034924052 scopus 로고    scopus 로고
    • The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP
    • Stankiewicz P, Park SS, Inoue K, Lupski JR, (2001) The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP. Genome Res 11: 1205–1210. 11435402
    • (2001) Genome Res , vol.11 , pp. 1205-1210
    • Stankiewicz, P.1    Park, S.S.2    Inoue, K.3    Lupski, J.R.4
  • 31
    • 0036105179 scopus 로고    scopus 로고
    • Structure and evolution of the Smith-Magenis syndrome repeat gene clusters
    • Park SS, Stankiewicz P, Bi W, Shaw C, Lehoczky J, et al. (2002) Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. Genome Res 12: 729–738. 11997339
    • (2002) SMS-REPs. Genome Res , vol.12 , pp. 729-738
    • Park, S.S.1    Stankiewicz, P.2    Bi, W.3    Shaw, C.4    Lehoczky, J.5
  • 32
    • 8744265059 scopus 로고    scopus 로고
    • Serial segmental duplications during primate evolution result in complex human genome architecture
    • Stankiewicz P, Shaw CJ, Withers M, Inoue K, Lupski JR, (2004) Serial segmental duplications during primate evolution result in complex human genome architecture. Genome Res 14: 2209–2220. 15520286
    • (2004) Genome Res , vol.14 , pp. 2209-2220
    • Stankiewicz, P.1    Shaw, C.J.2    Withers, M.3    Inoue, K.4    Lupski, J.R.5
  • 33
    • 55549124885 scopus 로고    scopus 로고
    • Copy number variation at the breakpoint region of isochromosome 17q
    • Carvalho CM, Lupski JR, (2008) Copy number variation at the breakpoint region of isochromosome 17q. Genome Res 18: 1724–1732. doi: 10.1101/gr.080697.108 18714090
    • (2008) Genome Res , vol.18 , pp. 1724-1732
    • Carvalho, C.M.1    Lupski, J.R.2
  • 34
    • 0020027910 scopus 로고
    • The origin of man: a chromosomal pictorial legacy
    • Yunis JJ, Prakash O, (1982) The origin of man: a chromosomal pictorial legacy. Science 215: 1525–1530. 7063861
    • (1982) Science , vol.215 , pp. 1525-1530
    • Yunis, J.J.1    Prakash, O.2
  • 35
    • 9044227270 scopus 로고    scopus 로고
    • Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis
    • Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, et al. (1996) Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. Hum Mol Genet 5: 367–371. 8852662
    • (1996) Hum Mol Genet , vol.5 , pp. 367-371
    • Konrad, M.1    Saunier, S.2    Heidet, L.3    Silbermann, F.4    Benessy, F.5
  • 36
    • 0031742106 scopus 로고    scopus 로고
    • Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus
    • Caridi G, Murer L, Bellantuono R, Sorino P, Caringella DA, et al. (1998) Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. Am J Kidney Dis 32: 1059–1062. 9856524
    • (1998) Am J Kidney Dis , vol.32 , pp. 1059-1062
    • Caridi, G.1    Murer, L.2    Bellantuono, R.3    Sorino, P.4    Caringella, D.A.5
  • 37
    • 3042637388 scopus 로고    scopus 로고
    • The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome
    • Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, et al. (2004) The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet 75: 82–91. 15138899
    • (2004) Am J Hum Genet , vol.75 , pp. 82-91
    • Parisi, M.A.1    Bennett, C.L.2    Eckert, M.L.3    Dobyns, W.B.4    Gleeson, J.G.5
  • 38
    • 84899977171 scopus 로고    scopus 로고
    • Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome
    • Lindstrand A, Davis EE, Carvalho CM, Pehlivan D, Willer JR, et al. (2014) Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet 94: 745–754. doi: 10.1016/j.ajhg.2014.03.017 24746959
    • (2014) Am J Hum Genet , vol.94 , pp. 745-754
    • Lindstrand, A.1    Davis, E.E.2    Carvalho, C.M.3    Pehlivan, D.4    Willer, J.R.5
  • 39
    • 0033941864 scopus 로고    scopus 로고
    • Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis
    • Saunier S, Calado J, Benessy F, Silbermann F, Heilig R, et al. (2000) Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. Am J Hum Genet 66: 778–789. 10712196
    • (2000) Am J Hum Genet , vol.66 , pp. 778-789
    • Saunier, S.1    Calado, J.2    Benessy, F.3    Silbermann, F.4    Heilig, R.5
  • 40
    • 0029592804 scopus 로고
    • Miropeats: graphical DNA sequence comparisons
    • Parsons JD, (1995) Miropeats: graphical DNA sequence comparisons. Comput Appl Biosci 11: 615–619. 8808577
    • (1995) Comput Appl Biosci , vol.11 , pp. 615-619
    • Parsons, J.D.1
  • 41
    • 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, (2008) A common sequence motif associated with recombination hot spots and genome instability in humans. Nat Genet 40: 1124–1129. doi: 10.1038/ng.213 19165926
    • (2008) Nat Genet , vol.40 , pp. 1124-1129
    • Myers, S.1    Freeman, C.2    Auton, A.3    Donnelly, P.4    McVean, G.5
  • 42
    • 76749170346 scopus 로고    scopus 로고
    • PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice
    • Baudat F, Buard J, Grey C, Fledel-Alon A, Ober C, et al. (2010) PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice. Science 327: 836–840. doi: 10.1126/science.1183439 20044539
    • (2010) Science , vol.327 , pp. 836-840
    • Baudat, F.1    Buard, J.2    Grey, C.3    Fledel-Alon, A.4    Ober, C.5
  • 43
    • 76749155072 scopus 로고    scopus 로고
    • Drive against hotspot motifs in primates implicates the PRDM9 gene in meiotic recombination
    • Myers S, Bowden R, Tumian A, Bontrop RE, Freeman C, et al. (2010) Drive against hotspot motifs in primates implicates the PRDM9 gene in meiotic recombination. Science 327: 876–879. doi: 10.1126/science.1182363 20044541
    • (2010) Science , vol.327 , pp. 876-879
    • Myers, S.1    Bowden, R.2    Tumian, A.3    Bontrop, R.E.4    Freeman, C.5
  • 44
    • 76749151934 scopus 로고    scopus 로고
    • Prdm9 controls activation of mammalian recombination hotspots
    • Parvanov ED, Petkov PM, Paigen K, (2010) Prdm9 controls activation of mammalian recombination hotspots. Science 327: 835. doi: 10.1126/science.1181495 20044538
    • (2010) Science , vol.327 , pp. 835
    • Parvanov, E.D.1    Petkov, P.M.2    Paigen, K.3
  • 46
    • 77954648699 scopus 로고    scopus 로고
    • High-resolution human genome structure by single-molecule analysis
    • Teague B, Waterman MS, Goldstein S, Potamousis K, Zhou S, et al. (2010) High-resolution human genome structure by single-molecule analysis. Proc Natl Acad Sci U S A 107: 10848–10853. doi: 10.1073/pnas.0914638107 20534489
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 10848-10853
    • Teague, B.1    Waterman, M.S.2    Goldstein, S.3    Potamousis, K.4    Zhou, S.5
  • 47
    • 84934943864 scopus 로고    scopus 로고
    • Single-molecule analysis reveals widespread structural variation in multiple myeloma
    • Gupta A, Place M, Goldstein S, Sarkar D, Zhou S, et al. (2015) Single-molecule analysis reveals widespread structural variation in multiple myeloma. Proc Natl Acad Sci U S A 112: 7689–7694. doi: 10.1073/pnas.1418577112 26056298
    • (2015) Proc Natl Acad Sci U S A , vol.112 , pp. 7689-7694
    • Gupta, A.1    Place, M.2    Goldstein, S.3    Sarkar, D.4    Zhou, S.5
  • 48
    • 84880907747 scopus 로고    scopus 로고
    • Discovery of structural alterations in solid tumor oligodendroglioma by single molecule analysis
    • Ray M, Goldstein S, Zhou S, Potamousis K, Sarkar D, et al. (2013) Discovery of structural alterations in solid tumor oligodendroglioma by single molecule analysis. BMC Genomics 14: 505. doi: 10.1186/1471-2164-14-505 23885787
    • (2013) BMC Genomics , vol.14 , pp. 505
    • Ray, M.1    Goldstein, S.2    Zhou, S.3    Potamousis, K.4    Sarkar, D.5
  • 49
    • 84908092597 scopus 로고    scopus 로고
    • Passage Number is a Major Contributor to Genomic Structural Variations in Mouse iPS Cells
    • Liu P, Kaplan A, Yuan B, Hanna JH, Lupski JR, et al. (2014) Passage Number is a Major Contributor to Genomic Structural Variations in Mouse iPS Cells. Stem Cells.
    • (2014) Stem Cells
    • Liu, P.1    Kaplan, A.2    Yuan, B.3    Hanna, J.H.4    Lupski, J.R.5
  • 51
    • 19344372749 scopus 로고    scopus 로고
    • Gene duplication: the genomic trade in spare parts
    • Hurles M, (2004) Gene duplication: the genomic trade in spare parts. PLoS Biol 2: E206. 15252449
    • (2004) PLoS Biol , vol.2 , pp. E206
    • Hurles, M.1
  • 52
    • 84898808163 scopus 로고    scopus 로고
    • Comparative primate genomics: emerging patterns of genome content and dynamics
    • Rogers J, Gibbs RA, (2014) Comparative primate genomics: emerging patterns of genome content and dynamics. Nat Rev Genet 15: 347–359. doi: 10.1038/nrg3707 24709753
    • (2014) Nat Rev Genet , vol.15 , pp. 347-359
    • Rogers, J.1    Gibbs, R.A.2
  • 53
    • 79251553493 scopus 로고    scopus 로고
    • Comparative and demographic analysis of orang-utan genomes
    • Locke DP, Hillier LW, Warren WC, Worley KC, Nazareth LV, et al. (2011) Comparative and demographic analysis of orang-utan genomes. Nature 469: 529–533. doi: 10.1038/nature09687 21270892
    • (2011) Nature , vol.469 , pp. 529-533
    • Locke, D.P.1    Hillier, L.W.2    Warren, W.C.3    Worley, K.C.4    Nazareth, L.V.5
  • 54
    • 84883682103 scopus 로고    scopus 로고
    • Evolution and diversity of copy number variation in the great ape lineage
    • Sudmant PH, Huddleston J, Catacchio CR, Malig M, Hillier LW, et al. (2013) Evolution and diversity of copy number variation in the great ape lineage. Genome Res 23: 1373–1382. doi: 10.1101/gr.158543.113 23825009
    • (2013) Genome Res , vol.23 , pp. 1373-1382
    • Sudmant, P.H.1    Huddleston, J.2    Catacchio, C.R.3    Malig, M.4    Hillier, L.W.5
  • 56
    • 33750453045 scopus 로고    scopus 로고
    • An algorithm for assembly of ordered restriction maps from single DNA molecules
    • Valouev A, Schwartz DC, Zhou S, Waterman MS, (2006) An algorithm for assembly of ordered restriction maps from single DNA molecules. Proc Natl Acad Sci U S A 103: 15770–15775. 17043225
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 15770-15775
    • Valouev, A.1    Schwartz, D.C.2    Zhou, S.3    Waterman, M.S.4
  • 58
    • 58149234737 scopus 로고    scopus 로고
    • Real-time DNA sequencing from single polymerase molecules
    • Eid J, Fehr A, Gray J, Luong K, Lyle J, et al. (2009) Real-time DNA sequencing from single polymerase molecules. Science 323: 133–138. doi: 10.1126/science.1162986 19023044
    • (2009) Science , vol.323 , pp. 133-138
    • Eid, J.1    Fehr, A.2    Gray, J.3    Luong, K.4    Lyle, J.5
  • 60
    • 84863230553 scopus 로고    scopus 로고
    • Insights into hominid evolution from the gorilla genome sequence
    • Scally A, Dutheil JY, Hillier LW, Jordan GE, Goodhead I, et al. (2012) Insights into hominid evolution from the gorilla genome sequence. Nature 483: 169–175. doi: 10.1038/nature10842 22398555
    • (2012) Nature , vol.483 , pp. 169-175
    • Scally, A.1    Dutheil, J.Y.2    Hillier, L.W.3    Jordan, G.E.4    Goodhead, I.5
  • 61
    • 0000660093 scopus 로고
    • The phylogenetic relationships among Homo, Pan and Gorilla: a population genetics perspective
    • Rogers J, (1993) The phylogenetic relationships among Homo, Pan and Gorilla: a population genetics perspective. Journal of Human Evolution 25: 201–215.
    • (1993) Journal of Human Evolution , vol.25 , pp. 201-215
    • Rogers, J.1
  • 62
    • 41349092308 scopus 로고    scopus 로고
    • The effect of sequence quality on sequence alignment
    • Malde K, (2008) The effect of sequence quality on sequence alignment. Bioinformatics 24: 897–900. doi: 10.1093/bioinformatics/btn052 18296747
    • (2008) Bioinformatics , vol.24 , pp. 897-900
    • Malde, K.1
  • 64
    • 84947920251 scopus 로고    scopus 로고
    • Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome
    • Yuan B, Harel T, Gu S, Liu P, Burglen L, et al. (2015) Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet 97: 691–707. doi: 10.1016/j.ajhg.2015.10.003 26544804
    • (2015) Am J Hum Genet , vol.97 , pp. 691-707
    • Yuan, B.1    Harel, T.2    Gu, S.3    Liu, P.4    Burglen, L.5
  • 65
    • 4544318512 scopus 로고    scopus 로고
    • A microfluidic system for large DNA molecule arrays
    • Dimalanta ET, Lim A, Runnheim R, Lamers C, Churas C, et al. (2004) A microfluidic system for large DNA molecule arrays. Anal Chem 76: 5293–5301. 15362885
    • (2004) Anal Chem , vol.76 , pp. 5293-5301
    • Dimalanta, E.T.1    Lim, A.2    Runnheim, R.3    Lamers, C.4    Churas, C.5
  • 66
    • 13144251116 scopus 로고    scopus 로고
    • Automated high resolution optical mapping using arrayed, fluid-fixed DNA molecules
    • Jing J, Reed J, Huang J, Hu X, Clarke V, et al. (1998) Automated high resolution optical mapping using arrayed, fluid-fixed DNA molecules. Proc Natl Acad Sci U S A 95: 8046–8051. 9653137
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 8046-8051
    • Jing, J.1    Reed, J.2    Huang, J.3    Hu, X.4    Clarke, V.5
  • 67
  • 68
    • 84860752901 scopus 로고    scopus 로고
    • Statistical significance of optical map alignments
    • Sarkar D, Goldstein S, Schwartz DC, Newton MA, (2012) Statistical significance of optical map alignments. J Comput Biol 19: 478–492. doi: 10.1089/cmb.2011.0221 22506568
    • (2012) J Comput Biol , vol.19 , pp. 478-492
    • Sarkar, D.1    Goldstein, S.2    Schwartz, D.C.3    Newton, M.A.4
  • 69
    • 0027485082 scopus 로고
    • Ordered restriction maps of Saccharomyces cerevisiae chromosomes constructed by optical mapping
    • Schwartz DC, Li X, Hernandez LI, Ramnarain SP, Huff EJ, et al. (1993) Ordered restriction maps of Saccharomyces cerevisiae chromosomes constructed by optical mapping. Science 262: 110–114. 8211116
    • (1993) Science , vol.262 , pp. 110-114
    • Schwartz, D.C.1    Li, X.2    Hernandez, L.I.3    Ramnarain, S.P.4    Huff, E.J.5
  • 71
    • 73649103712 scopus 로고    scopus 로고
    • A single molecule scaffold for the maize genome
    • Zhou S, Wei F, Nguyen J, Bechner M, Potamousis K, et al. (2009) A single molecule scaffold for the maize genome. PLoS Genet 5: e1000711. doi: 10.1371/journal.pgen.1000711 19936062
    • (2009) PLoS Genet , vol.5 , pp. e1000711
    • Zhou, S.1    Wei, F.2    Nguyen, J.3    Bechner, M.4    Potamousis, K.5


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