메뉴 건너뛰기




Volumn 110, Issue 39, 2013, Pages 15764-15769

Primate genome architecture influences structural variation mechanisms and functional consequences

Author keywords

Copy number variation; Genome evolution; Neofunctionalization; Retrotransposons

Indexed keywords

DNA; TRANSCRIPTOME;

EID: 84884652883     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1305904110     Document Type: Article
Times cited : (48)

References (47)
  • 1
    • 4444291843 scopus 로고    scopus 로고
    • Detection of large-scale variation in the human genome
    • Iafrate AJ, et al. (2004) Detection of large-scale variation in the human genome. Nat Genet 36(9):949-951.
    • (2004) Nat Genet , vol.36 , Issue.9 , pp. 949-951
    • Iafrate, A.J.1
  • 2
    • 3242808027 scopus 로고    scopus 로고
    • Large-scale copy number polymorphism in the human genome
    • Sebat J, et al. (2004) Large-scale copy number polymorphism in the human genome. Science 305(5683):525-528.
    • (2004) Science , vol.305 , Issue.5683 , pp. 525-528
    • Sebat, J.1
  • 3
    • 84975804424 scopus 로고    scopus 로고
    • Mapping copy number variation by population-scale genome sequencing
    • Mills RE, et al. (2011) Mapping copy number variation by population-scale genome sequencing. Nature 470(7332):59-65.
    • (2011) Nature , vol.470 , Issue.7332 , pp. 59-65
    • Mills, R.E.1
  • 4
    • 78049412267 scopus 로고    scopus 로고
    • Diversity of human copy number variation and multicopy genes
    • Sudmant PH, et al. (2010) Diversity of human copy number variation and multicopy genes. Science 330(6004):641-646.
    • (2010) Science , vol.330 , Issue.6004 , pp. 641-646
    • Sudmant, P.H.1
  • 5
    • 35348988679 scopus 로고    scopus 로고
    • Paired-end mapping reveals extensive structural variation in the human genome
    • Korbel JO, et al. (2007) Paired-end mapping reveals extensive structural variation in the human genome. Science 318(5849):420-426.
    • (2007) Science , vol.318 , Issue.5849 , pp. 420-426
    • Korbel, J.O.1
  • 6
    • 83055168377 scopus 로고    scopus 로고
    • Relating CNVs to transcriptome data at fine resolution: Assessment of the effect of variant size, type, and overlap with functional regions
    • Schlattl A, Anders S, Waszak SM, Huber W, Korbel JO (2011) Relating CNVs to transcriptome data at fine resolution: Assessment of the effect of variant size, type, and overlap with functional regions. Genome Res 21(12):2004-2013.
    • (2011) Genome Res , vol.21 , Issue.12 , pp. 2004-2013
    • Schlattl, A.1    Anders, S.2    Waszak, S.M.3    Huber, W.4    Korbel, J.O.5
  • 7
    • 52149084405 scopus 로고    scopus 로고
    • Explaining human uniqueness: Genome interactions with environment, behaviour and culture
    • Varki A, Geschwind DH, Eichler EE (2008) Explaining human uniqueness: Genome interactions with environment, behaviour and culture. Nat Rev Genet 9(10):749-763.
    • (2008) Nat Rev Genet , vol.9 , Issue.10 , pp. 749-763
    • Varki, A.1    Geschwind, D.H.2    Eichler, E.E.3
  • 8
    • 84869479375 scopus 로고    scopus 로고
    • Evolution of genetic and genomic features unique to the human lineage
    • O'Bleness M, Searles VB, Varki A, Gagneux P, Sikela JM (2012) Evolution of genetic and genomic features unique to the human lineage. Nat Rev Genet 13(12):853-866.
    • (2012) Nat Rev Genet , vol.13 , Issue.12 , pp. 853-866
    • O'bleness, M.1    Searles, V.B.2    Varki, A.3    Gagneux, P.4    Sikela, J.M.5
  • 9
    • 24344500211 scopus 로고    scopus 로고
    • Initial sequence of the chimpanzee genome and comparison with the human genome
    • Chimpanzee Sequencing and Analysis Consortium (2005) Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 437(7055):69-87.
    • (2005) Nature , vol.437 , Issue.7055 , pp. 69-87
    • Sequencing, C.1    Consortium, A.2
  • 10
    • 79251553493 scopus 로고    scopus 로고
    • Comparative and demographic analysis of orang-utan genomes
    • Locke DP, et al. (2011) Comparative and demographic analysis of orang-utan genomes. Nature 469(7331):529-533.
    • (2011) Nature , vol.469 , Issue.7331 , pp. 529-533
    • Locke, D.P.1
  • 11
    • 34247352040 scopus 로고    scopus 로고
    • Evolutionary and biomedical insights from the rhesus macaque genome
    • Gibbs RA, et al. (2007) Evolutionary and biomedical insights from the rhesus macaque genome. Science 316(5822):222-234.
    • (2007) Science , vol.316 , Issue.5822 , pp. 222-234
    • Gibbs, R.A.1
  • 12
    • 60149083509 scopus 로고    scopus 로고
    • A burst of segmental duplications in the genome of the African great ape ancestor
    • Marques-Bonet T, et al. (2009) A burst of segmental duplications in the genome of the African great ape ancestor. Nature 457(7231):877-881.
    • (2009) Nature , vol.457 , Issue.7231 , pp. 877-881
    • Marques-Bonet, T.1
  • 13
    • 80053542924 scopus 로고    scopus 로고
    • Copy number variation analysis in the great apes reveals species-specific patterns of structural variation
    • Gazave E, et al. (2011) Copy number variation analysis in the great apes reveals species-specific patterns of structural variation. Genome Res 21(10):1626-1639.
    • (2011) Genome Res , vol.21 , Issue.10 , pp. 1626-1639
    • Gazave, E.1
  • 14
    • 55549143682 scopus 로고    scopus 로고
    • Copy number variation and evolution in humans and chimpanzees
    • Perry GH, et al. (2008) Copy number variation and evolution in humans and chimpanzees. Genome Res 18(11):1698-1710.
    • (2008) Genome Res , vol.18 , Issue.11 , pp. 1698-1710
    • Perry, G.H.1
  • 15
    • 41849091509 scopus 로고    scopus 로고
    • Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies
    • Lee AS, et al. (2008) Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies. Hum Mol Genet 17(8):1127-1136.
    • (2008) Hum Mol Genet , vol.17 , Issue.8 , pp. 1127-1136
    • Lee, A.S.1
  • 16
    • 79957639498 scopus 로고    scopus 로고
    • Refinement of primate copy number variation hotspots identifies candidate genomic regions evolving under positive selection
    • Gokcumen O, et al. (2011) Refinement of primate copy number variation hotspots identifies candidate genomic regions evolving under positive selection. Genome Biol 12(5):R52.
    • (2011) Genome Biol , vol.12 , Issue.5
    • Gokcumen, O.1
  • 17
    • 80755189340 scopus 로고    scopus 로고
    • Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques
    • Yan G, et al. (2011) Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques. Nat Biotechnol 29(11): 1019-1023.
    • (2011) Nat Biotechnol , vol.29 , Issue.11 , pp. 1019-1023
    • Yan, G.1
  • 18
    • 84859636918 scopus 로고    scopus 로고
    • A fine-scale chimpanzee genetic map from population sequencing
    • Auton A, et al. (2012) A fine-scale chimpanzee genetic map from population sequencing. Science 336(6078):193-198.
    • (2012) Science , vol.336 , Issue.6078 , pp. 193-198
    • Auton, A.1
  • 19
    • 84862980012 scopus 로고    scopus 로고
    • The bonobo genome compared with the chimpanzee and human genomes
    • Prüfer K, et al. (2012) The bonobo genome compared with the chimpanzee and human genomes. Nature 486(7404):527-531.
    • (2012) Nature , vol.486 , Issue.7404 , pp. 527-531
    • Prüfer, K.1
  • 20
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1,092 human genomes
    • 1000 Genomes Project Consortium, (2012) An integrated map of genetic variation from 1,092 human genomes. Nature 491(7422):56-65.
    • (2012) Nature , vol.491 , Issue.7422 , pp. 56-65
  • 21
    • 84865285978 scopus 로고    scopus 로고
    • Landscape of somatic retrotransposition in human cancers
    • Lee E, et al. (2012) Landscape of somatic retrotransposition in human cancers. Science 337(6097):967-971.
    • (2012) Science , vol.337 , Issue.6097 , pp. 967-971
    • Lee, E.1
  • 22
    • 74049093136 scopus 로고    scopus 로고
    • Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library
    • Lam HY, et al. (2010) Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library. Nat Biotechnol 28(1):47-55.
    • (2010) Nat Biotechnol , vol.28 , Issue.1 , pp. 47-55
    • Lam, H.Y.1
  • 23
    • 79251493015 scopus 로고    scopus 로고
    • A human genome structural variation sequencing resource reveals insights into mutational mechanisms
    • Kidd JM, et al. (2010) A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Cell 143(5):837-847.
    • (2010) Cell , vol.143 , Issue.5 , pp. 837-847
    • Kidd, J.M.1
  • 25
    • 84871843373 scopus 로고    scopus 로고
    • Orangutan Alu quiescence reveals possible source element: Support for ancient backseat drivers
    • Walker JA, et al. (2012) Orangutan Alu quiescence reveals possible source element: Support for ancient backseat drivers. Mob DNA 3:8.
    • (2012) Mob DNA , vol.3 , pp. 8
    • Walker, J.A.1
  • 26
    • 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(2):74-82.
    • (2002) Trends Genet , vol.18 , Issue.2 , pp. 74-82
    • Stankiewicz, P.1    Lupski, J.R.2
  • 28
    • 84861203603 scopus 로고    scopus 로고
    • EggNOG v3.0: Orthologous groups covering 1133 organisms at 41 different taxonomic ranges
    • Powell S, et al. (2012) eggNOG v3.0: Orthologous groups covering 1133 organisms at 41 different taxonomic ranges. Nucleic Acids Res 40(Database issue):D284-D289.
    • (2012) Nucleic Acids Res , vol.40 , Issue.DATABASE ISSUE
    • Powell, S.1
  • 29
    • 84864501376 scopus 로고    scopus 로고
    • Regulatory element copy number differences shape primate expression profiles
    • Iskow RC, et al. (2012) Regulatory element copy number differences shape primate expression profiles. Proc Natl Acad Sci USA 109(31):12656-12661.
    • (2012) Proc Natl Acad Sci USA , vol.109 , Issue.31 , pp. 12656-12661
    • Iskow, R.C.1
  • 30
    • 84864494098 scopus 로고    scopus 로고
    • GeneCodis3: A nonredundant and modular enrichment analysis tool for functional genomics
    • Tabas-Madrid D, Nogales-Cadenas R, Pascual-Montano A (2012) GeneCodis3: A nonredundant and modular enrichment analysis tool for functional genomics. Nucleic Acids Res 40(Web Server issue):W478-W483.
    • (2012) Nucleic Acids Res , vol.40 , Issue.WEB SERV. ISS.
    • Tabas-Madrid, D.1    Nogales-Cadenas, R.2    Pascual-Montano, A.3
  • 31
    • 35349012592 scopus 로고    scopus 로고
    • Genome-wide detection and characterization of positive selection in human populations
    • Sabeti PC, et al. (2007) Genome-wide detection and characterization of positive selection in human populations. Nature 449(7164):913-918.
    • (2007) Nature , vol.449 , Issue.7164 , pp. 913-918
    • Sabeti, P.C.1
  • 32
    • 4344673329 scopus 로고    scopus 로고
    • Gene duplication and speciation in Drosophila: Evidence from the Odysseus locus
    • Ting CT, et al. (2004) Gene duplication and speciation in Drosophila: Evidence from the Odysseus locus. Proc Natl Acad Sci USA 101(33):12232-12235.
    • (2004) Proc Natl Acad Sci USA , vol.101 , Issue.33 , pp. 12232-12235
    • Ting, C.T.1
  • 33
    • 33846978695 scopus 로고    scopus 로고
    • Relative impact of nucleotide and copy number variation on gene expression phenotypes
    • Stranger BE, et al. (2007) Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 315(5813):848-853.
    • (2007) Science , vol.315 , Issue.5813 , pp. 848-853
    • Stranger, B.E.1
  • 34
    • 34748895999 scopus 로고    scopus 로고
    • Diet and the evolution of human amylase gene copy number variation
    • Perry GH, et al. (2007) Diet and the evolution of human amylase gene copy number variation. Nat Genet 39(10):1256-1260.
    • (2007) Nat Genet , vol.39 , Issue.10 , pp. 1256-1260
    • Perry, G.H.1
  • 35
    • 84872506987 scopus 로고    scopus 로고
    • Phenotypic impact of genomic structural variation: Insights from and for human disease
    • Weischenfeldt J, Symmons O, Spitz F, Korbel JO (2013) Phenotypic impact of genomic structural variation: Insights from and for human disease. Nat Rev Genet 14(2):125-138.
    • (2013) Nat Rev Genet , vol.14 , Issue.2 , pp. 125-138
    • Weischenfeldt, J.1    Symmons, O.2    Spitz, F.3    Korbel, J.O.4
  • 36
    • 63449117467 scopus 로고    scopus 로고
    • Segmental copy number variation shapes tissue transcriptomes
    • Henrichsen CN, et al. (2009) Segmental copy number variation shapes tissue transcriptomes. Nat Genet 41(4):424-429.
    • (2009) Nat Genet , vol.41 , Issue.4 , pp. 424-429
    • Henrichsen, C.N.1
  • 37
    • 80054976678 scopus 로고    scopus 로고
    • The evolution of gene expression levels in mammalian organs
    • Brawand D, et al. (2011) The evolution of gene expression levels in mammalian organs. Nature 478(7369):343-348.
    • (2011) Nature , vol.478 , Issue.7369 , pp. 343-348
    • Brawand, D.1
  • 38
    • 33646926418 scopus 로고    scopus 로고
    • The jewels of our genome: The search for the genomic changes underlying the evolutionarily unique capacities of the human brain
    • Sikela JM (2006) The jewels of our genome: The search for the genomic changes underlying the evolutionarily unique capacities of the human brain. PLoS Genet 2(5):e80.
    • (2006) PLoS Genet , vol.2 , Issue.5
    • Sikela, J.M.1
  • 39
    • 78650601863 scopus 로고    scopus 로고
    • Characterization and expression of HLysG2, a basic goose-type lysozyme from the human eye and testis
    • Huang P, et al. (2011) Characterization and expression of HLysG2, a basic goose-type lysozyme from the human eye and testis. Mol Immunol 48(4):524-531.
    • (2011) Mol Immunol , vol.48 , Issue.4 , pp. 524-531
    • Huang, P.1
  • 40
    • 80052318161 scopus 로고    scopus 로고
    • A comprehensive map of mobile element insertion polymorphisms in humans
    • Stewart C, et al. (2011) A comprehensive map of mobile element insertion polymorphisms in humans. PLoS Genet 7(8):e1002236.
    • (2011) PLoS Genet , vol.7 , Issue.8
    • Stewart, C.1
  • 41
    • 84860860685 scopus 로고    scopus 로고
    • Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication
    • Dennis MY, et al. (2012) Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. Cell 149(4):912-922.
    • (2012) Cell , vol.149 , Issue.4 , pp. 912-922
    • Dennis, M.Y.1
  • 42
    • 33748292822 scopus 로고    scopus 로고
    • Human lineage-specific amplification, selection, and neuronal expression of DUF1220 domains
    • Popesco MC, et al. (2006) Human lineage-specific amplification, selection, and neuronal expression of DUF1220 domains. Science 313(5791):1304-1307.
    • (2006) Science , vol.313 , Issue.5791 , pp. 1304-1307
    • Popesco, M.C.1
  • 43
    • 84870655983 scopus 로고    scopus 로고
    • The ortholog conjecture is untestable by the current gene ontology but is supported by RNA sequencing data
    • Chen X, Zhang J (2012) The ortholog conjecture is untestable by the current gene ontology but is supported by RNA sequencing data. PLoS Comput Biol 8(11): e1002784.
    • (2012) PLoS Comput Biol , vol.8 , Issue.11
    • Chen, X.1    Zhang, J.2
  • 44
    • 84885432704 scopus 로고    scopus 로고
    • Accelerated evolution after gene duplication: A time-dependent process affecting just one copy
    • Pegueroles C, Laurie S, Albà MM (2013) Accelerated evolution after gene duplication: A time-dependent process affecting just one copy. Mol Biol Evol 30(8):1830-1842.
    • (2013) Mol Biol Evol , vol.30 , Issue.8 , pp. 1830-1842
    • Pegueroles, C.1    Laurie, S.2    Albà, M.M.3
  • 45
    • 15544389841 scopus 로고    scopus 로고
    • Rapid subfunctionalization accompanied by prolonged and substantial neofunctionalization in duplicate gene evolution
    • He X, Zhang J (2005) Rapid subfunctionalization accompanied by prolonged and substantial neofunctionalization in duplicate gene evolution. Genetics 169(2):1157-1164.
    • (2005) Genetics , vol.169 , Issue.2 , pp. 1157-1164
    • He, X.1    Zhang, J.2
  • 46
    • 0346100700 scopus 로고    scopus 로고
    • The structure and early evolution of recently arisen gene duplicates in the Caenorhabditis elegans genome
    • Katju V, Lynch M (2003) The structure and early evolution of recently arisen gene duplicates in the Caenorhabditis elegans genome. Genetics 165(4):1793-1803.
    • (2003) Genetics , vol.165 , Issue.4 , pp. 1793-1803
    • Katju, V.1    Lynch, M.2
  • 47
    • 6344239412 scopus 로고    scopus 로고
    • Divergence of spatial gene expression profiles following species-specific gene duplications in human and mouse
    • Huminiecki L, Wolfe KH (2004) Divergence of spatial gene expression profiles following species-specific gene duplications in human and mouse. Genome Res 14 (10A):1870-1879.
    • (2004) Genome Res , vol.14 , Issue.10 A , pp. 1870-1879
    • Huminiecki, L.1    Wolfe, K.H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.