메뉴 건너뛰기




Volumn 3, Issue 10, 2007, Pages 1939-1949

Alu recombination-mediated structural deletions in the chimpanzee genome

Author keywords

[No Author keywords available]

Indexed keywords

ALU SEQUENCE; ARTICLE; CHIMPANZEE; DNA RECOMBINATION; GENE DELETION; GENE LOCUS; GENE REARRANGEMENT; GENETIC LINE; GENETIC RISK; GENETIC VARIABILITY; GENOME ANALYSIS; GENOME SIZE; HUMAN; HUMAN GENOME; HUMAN VERSUS ANIMAL COMPARISON; INTRON; MAMMALIAN GENETICS; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; ORTHOLOGY;

EID: 35948983427     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.0030184     Document Type: Article
Times cited : (82)

References (56)
  • 1
  • 2
    • 0036250811 scopus 로고    scopus 로고
    • Alu repeats and human genomic diversity
    • Batzer MA, Deininger PL (2002) Alu repeats and human genomic diversity. Nat Rev Genet 3: 370-379.
    • (2002) Nat Rev Genet , vol.3 , pp. 370-379
    • Batzer, M.A.1    Deininger, P.L.2
  • 3
    • 24344500211 scopus 로고    scopus 로고
    • Initial sequence of the chimpanzee genome and comparison with the human genome
    • Chimpanzee Sequencing and Analysis Consortium
    • Chimpanzee Sequencing and Analysis Consortium (2005) Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 437: 69-87.
    • (2005) Nature , vol.437 , pp. 69-87
  • 5
    • 34247352040 scopus 로고    scopus 로고
    • Evolutionary and biomedical insights from the rhesus macaque genome
    • Rhesus Macaque Genome Sequencing and Analysis Consortium
    • Rhesus Macaque Genome Sequencing and Analysis Consortium (2007) Evolutionary and biomedical insights from the rhesus macaque genome. Science 316: 222-234.
    • (2007) Science , vol.316 , pp. 222-234
  • 6
    • 0026541721 scopus 로고
    • Fusion of a free left Alu monomer and a free right Alu monomer at the origin of the Alu family in the primate genomes
    • Quentin Y (1992) Fusion of a free left Alu monomer and a free right Alu monomer at the origin of the Alu family in the primate genomes. Nucleic Acids Res 20: 487-493.
    • (1992) Nucleic Acids Res , vol.20 , pp. 487-493
    • Quentin, Y.1
  • 8
    • 23044500870 scopus 로고    scopus 로고
    • Genomic rearrangements by LINE-1 insertion-mediated deletion in the human and chimpanzee lineages
    • Han K, Sen SK, Wang J, Callinan PA, Lee J, et al. (2005) Genomic rearrangements by LINE-1 insertion-mediated deletion in the human and chimpanzee lineages. Nucleic Acids Res 33: 4040-4052.
    • (2005) Nucleic Acids Res , vol.33 , pp. 4040-4052
    • Han, K.1    Sen, S.K.2    Wang, J.3    Callinan, P.A.4    Lee, J.5
  • 10
    • 33745244299 scopus 로고    scopus 로고
    • Human genomic deletions mediated by recombination between Alu elements
    • Sen SK, Han K, Wang J, Lee J, Wang H, et al. (2006) Human genomic deletions mediated by recombination between Alu elements. Am J Hum Genet 79: 41-53.
    • (2006) Am J Hum Genet , vol.79 , pp. 41-53
    • Sen, S.K.1    Han, K.2    Wang, J.3    Lee, J.4    Wang, H.5
  • 14
    • 0342298816 scopus 로고
    • A fundamental division in the Alu family of repeated sequences
    • Jurka J, Smith T (1988) A fundamental division in the Alu family of repeated sequences. Proc Natl Acad Sci U S A 85: 4775-4778.
    • (1988) Proc Natl Acad Sci U S A , vol.85 , pp. 4775-4778
    • Jurka, J.1    Smith, T.2
  • 15
    • 0027026168 scopus 로고
    • Transcriptional regulation and transpositional selection of active SINE sequences
    • Schmid C, Maraia R (1992) Transcriptional regulation and transpositional selection of active SINE sequences. Curr Opin Genet Dev 2: 874-882.
    • (1992) Curr Opin Genet Dev , vol.2 , pp. 874-882
    • Schmid, C.1    Maraia, R.2
  • 16
    • 18844379386 scopus 로고    scopus 로고
    • The biased distribution of Alus in human isochores might be driven by recombination
    • Hackenberg M, Bernaola-Galvan P, Carpena P, Oliver JL (2005) The biased distribution of Alus in human isochores might be driven by recombination. J Mol Evol 60: 365-377.
    • (2005) J Mol Evol , vol.60 , pp. 365-377
    • Hackenberg, M.1    Bernaola-Galvan, P.2    Carpena, P.3    Oliver, J.L.4
  • 17
    • 0027972378 scopus 로고
    • Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
    • Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, et al. (1994) Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 3: 223-228.
    • (1994) Hum Mol Genet , vol.3 , pp. 223-228
    • Chance, P.F.1    Abbas, N.2    Lensch, M.W.3    Pentao, L.4    Roa, B.B.5
  • 18
    • 33751510984 scopus 로고    scopus 로고
    • Comparative genomic analysis of human and chimpanzee indicates a key role for indels in primate evolution
    • Wetterbom A, Sevov M, Cavelier L, Bergstrom TF (2006) Comparative genomic analysis of human and chimpanzee indicates a key role for indels in primate evolution. J Mol Evol 63: 682-690.
    • (2006) J Mol Evol , vol.63 , pp. 682-690
    • Wetterbom, A.1    Sevov, M.2    Cavelier, L.3    Bergstrom, T.F.4
  • 19
    • 8744242187 scopus 로고    scopus 로고
    • Whole-genome analysis of Alu repeat elements reveals complex evolutionary history
    • Price AL, Eskin E, Pevzner PA (2004) Whole-genome analysis of Alu repeat elements reveals complex evolutionary history. Genome Res 14: 2245-2252.
    • (2004) Genome Res , vol.14 , pp. 2245-2252
    • Price, A.L.1    Eskin, E.2    Pevzner, P.A.3
  • 21
    • 12344300804 scopus 로고    scopus 로고
    • Widespread A-to-I RNA editing of Alu-containing mRNAs in the human transcriptome
    • doi:10.1371/journal.pbio.0020391
    • Athanasiadis A, Rich A, Maas S (2004) Widespread A-to-I RNA editing of Alu-containing mRNAs in the human transcriptome. PLoS Biol 2: e391. doi:10.1371/journal.pbio.0020391
    • (2004) PLoS Biol , vol.2
    • Athanasiadis, A.1    Rich, A.2    Maas, S.3
  • 22
    • 0028967353 scopus 로고
    • One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi
    • Rudiger NS, Gregersen N, Kielland-Brandt MC (1995) One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. Nucleic Acids Res 23: 256-260.
    • (1995) Nucleic Acids Res , vol.23 , pp. 256-260
    • Rudiger, N.S.1    Gregersen, N.2    Kielland-Brandt, M.C.3
  • 23
    • 0018590565 scopus 로고
    • Special sites in generalized recombination
    • Stahl FW (1979) Special sites in generalized recombination. Annu Rev Genet 13: 7-24.
    • (1979) Annu Rev Genet , vol.13 , pp. 7-24
    • Stahl, F.W.1
  • 24
    • 7944232060 scopus 로고    scopus 로고
    • Alu element mutation spectra: Molecular clocks and the effect of DNA methylation
    • Xing J, Hedges DJ, Han K, Wang H, Cordaux R, et al. (2004) Alu element mutation spectra: Molecular clocks and the effect of DNA methylation. J Mol Biol 344: 675-682.
    • (2004) J Mol Biol , vol.344 , pp. 675-682
    • Xing, J.1    Hedges, D.J.2    Han, K.3    Wang, H.4    Cordaux, R.5
  • 25
    • 0019322245 scopus 로고
    • DNA methylation and the frequency of CpG in animal DNA
    • Bird AP (1980) DNA methylation and the frequency of CpG in animal DNA. Nucleic Acids Res 8: 1499-1504.
    • (1980) Nucleic Acids Res , vol.8 , pp. 1499-1504
    • Bird, A.P.1
  • 27
    • 0034989085 scopus 로고    scopus 로고
    • Local rates of recombination are positively correlated with GC content in the human genome
    • Fullerton SM, Bernardo Carvalho A, Clark AG (2001) Local rates of recombination are positively correlated with GC content in the human genome. Mol Biol Evol 18: 1139-1142.
    • (2001) Mol Biol Evol , vol.18 , pp. 1139-1142
    • Fullerton, S.M.1    Bernardo Carvalho, A.2    Clark, A.G.3
  • 28
    • 33846912203 scopus 로고    scopus 로고
    • Different evolutionary fates of recently integrated human and chimpanzee LINE-1 retrotransposons
    • Lee J, Cordaux R, Han K, Wang J, Hedges DJ, et al. (2007) Different evolutionary fates of recently integrated human and chimpanzee LINE-1 retrotransposons. Gene 390: 18-27.
    • (2007) Gene , vol.390 , pp. 18-27
    • Lee, J.1    Cordaux, R.2    Han, K.3    Wang, J.4    Hedges, D.J.5
  • 29
    • 3042514196 scopus 로고    scopus 로고
    • Differential alu mobilization and polymorphism among the human and chimpanzee lineages
    • Hedges DJ, Callinan PA, Cordaux R, Xing J, Barnes E, et al. (2004) Differential alu mobilization and polymorphism among the human and chimpanzee lineages. Genome Res 14: 1068-1075.
    • (2004) Genome Res , vol.14 , pp. 1068-1075
    • Hedges, D.J.1    Callinan, P.A.2    Cordaux, R.3    Xing, J.4    Barnes, E.5
  • 31
    • 4644220954 scopus 로고    scopus 로고
    • MLL: A histone methyltransferase disrupted in leukemia
    • Hess JL (2004) MLL: A histone methyltransferase disrupted in leukemia. Trends Mol Med 10: 500-507.
    • (2004) Trends Mol Med , vol.10 , pp. 500-507
    • Hess, J.L.1
  • 32
    • 0030929515 scopus 로고    scopus 로고
    • Recombination hot spots and human disease
    • Purandare SM, Patel PI (1997) Recombination hot spots and human disease. Genome Res 7: 773-786.
    • (1997) Genome Res , vol.7 , pp. 773-786
    • Purandare, S.M.1    Patel, P.I.2
  • 33
    • 0021918948 scopus 로고
    • Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains
    • Lehrman MA, Schneider WJ, Sudhof TC, Brown MS, Goldstein JL, et al. (1985) Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science 227: 140-146.
    • (1985) Science , vol.227 , pp. 140-146
    • Lehrman, M.A.1    Schneider, W.J.2    Sudhof, T.C.3    Brown, M.S.4    Goldstein, J.L.5
  • 34
    • 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.
    • (2006) Nat Rev Genet , vol.7 , pp. 552-564
    • Bailey, J.A.1    Eichler, E.E.2
  • 35
    • 24344459066 scopus 로고    scopus 로고
    • A genomewide comparison of recent chimpanzee and human segmental duplications
    • Cheng Z, Ventura M, She X, Khaitovich P, Graves T, et al. (2005) A genomewide comparison of recent chimpanzee and human segmental duplications. Nature 437: 88-93.
    • (2005) Nature , vol.437 , pp. 88-93
    • Cheng, Z.1    Ventura, M.2    She, X.3    Khaitovich, P.4    Graves, T.5
  • 36
    • 0035130163 scopus 로고    scopus 로고
    • Genomic divergences between humans and other hominoids and the effective population size of the common ancestor of humans and chimpanzees
    • Chen FC, Li WH (2001) Genomic divergences between humans and other hominoids and the effective population size of the common ancestor of humans and chimpanzees. Am J Hum Genet 68: 444-456.
    • (2001) Am J Hum Genet , vol.68 , pp. 444-456
    • Chen, F.C.1    Li, W.H.2
  • 37
    • 0142059650 scopus 로고    scopus 로고
    • An Alu transposition model for the origin and expansion of human segmental duplications
    • Bailey JA, Liu G, Eichler EE (2003) An Alu transposition model for the origin and expansion of human segmental duplications. Am J Hum Genet 73: 823-834.
    • (2003) Am J Hum Genet , vol.73 , pp. 823-834
    • Bailey, J.A.1    Liu, G.2    Eichler, E.E.3
  • 38
    • 0037350508 scopus 로고    scopus 로고
    • Analysis of primate genomic variation reveals a repeat-driven expansion of the human genome
    • Liu G, Zhao S, Bailey JA, Sahinalp SC, Alkan C, et al. (2003) Analysis of primate genomic variation reveals a repeat-driven expansion of the human genome. Genome Res 13: 358-368.
    • (2003) Genome Res , vol.13 , pp. 358-368
    • Liu, G.1    Zhao, S.2    Bailey, J.A.3    Sahinalp, S.C.4    Alkan, C.5
  • 39
    • 0035058360 scopus 로고    scopus 로고
    • Evolution of genome size: New approaches to an old problem
    • Petrov DA (2001) Evolution of genome size: New approaches to an old problem. Trends Genet 17: 23-28.
    • (2001) Trends Genet , vol.17 , pp. 23-28
    • Petrov, D.A.1
  • 40
    • 0036061848 scopus 로고    scopus 로고
    • Genome size reduction through illegitimate recombination counteracts genome expansion in Arabidopsis
    • Devos KM, Brown JK, Bennetzen JL (2002) Genome size reduction through illegitimate recombination counteracts genome expansion in Arabidopsis. Genome Res 12: 1075-1079.
    • (2002) Genome Res , vol.12 , pp. 1075-1079
    • Devos, K.M.1    Brown, J.K.2    Bennetzen, J.L.3
  • 41
    • 2342466982 scopus 로고    scopus 로고
    • Analyses of LTR-retrotransposon structures reveal recent and rapid genomic DNA loss in rice
    • Ma J, Devos KM, Bennetzen JL (2004) Analyses of LTR-retrotransposon structures reveal recent and rapid genomic DNA loss in rice. Genome Res 14: 860-869.
    • (2004) Genome Res , vol.14 , pp. 860-869
    • Ma, J.1    Devos, K.M.2    Bennetzen, J.L.3
  • 42
    • 34147145526 scopus 로고    scopus 로고
    • Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies
    • doi:10.1371/journal.pgen.0010056
    • Feuk L, MacDonald JR, Tang T, Carson AR, Li M, et al. (2005) Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies. PLoS Genet 1: e56. doi:10.1371/journal.pgen.0010056
    • (2005) PLoS Genet , vol.1
    • Feuk, L.1    MacDonald, J.R.2    Tang, T.3    Carson, A.R.4    Li, M.5
  • 43
  • 44
    • 33748271469 scopus 로고    scopus 로고
    • An initial map of insertion and deletion (INDEL) variation in the human genome
    • Mills RE, Luttig CT, Larkins CE, Beauchamp A, Tsui C, et al. (2006) An initial map of insertion and deletion (INDEL) variation in the human genome. Genome Res 16: 1182-1190.
    • (2006) Genome Res , vol.16 , pp. 1182-1190
    • Mills, R.E.1    Luttig, C.T.2    Larkins, C.E.3    Beauchamp, A.4    Tsui, C.5
  • 45
    • 7944230803 scopus 로고    scopus 로고
    • Structural evolution of the BRCA1 genomic region in primates
    • Jin H, Selfe J, Whitehouse C, Morris JR, Solomon E, et al. (2004) Structural evolution of the BRCA1 genomic region in primates. Genomics 84: 1071-1082.
    • (2004) Genomics , vol.84 , pp. 1071-1082
    • Jin, H.1    Selfe, J.2    Whitehouse, C.3    Morris, J.R.4    Solomon, E.5
  • 46
    • 0030799598 scopus 로고    scopus 로고
    • Isolation and characterisation of the NBR2 gene which lies head to head with the human BRCA1 gene
    • Xu CF, Brown MA, Nicolai H, Chambers JA, Griffiths BL, et al. (1997) Isolation and characterisation of the NBR2 gene which lies head to head with the human BRCA1 gene. Hum Mol Genet 6: 1057-1062.
    • (1997) Hum Mol Genet , vol.6 , pp. 1057-1062
    • Xu, C.F.1    Brown, M.A.2    Nicolai, H.3    Chambers, J.A.4    Griffiths, B.L.5
  • 47
    • 18044398255 scopus 로고    scopus 로고
    • Model of transcriptional regulation of the BRCA1-NBR2 bi-directional transcriptional unit
    • Suen TC, Tang MS, Goss PE (2005) Model of transcriptional regulation of the BRCA1-NBR2 bi-directional transcriptional unit. Biochim Biophys Acta 1728: 126-134.
    • (2005) Biochim Biophys Acta , vol.1728 , pp. 126-134
    • Suen, T.C.1    Tang, M.S.2    Goss, P.E.3
  • 49
    • 0037835606 scopus 로고    scopus 로고
    • Cloning, physical mapping and expression analysis of the human 5-HT3 serotonin receptor-like genes HTR3C, HTR3D and HTR3E
    • Niesler B, Frank B, Kapeller J, Rappold GA (2003) Cloning, physical mapping and expression analysis of the human 5-HT3 serotonin receptor-like genes HTR3C, HTR3D and HTR3E. Gene 310: 101-111.
    • (2003) Gene , vol.310 , pp. 101-111
    • Niesler, B.1    Frank, B.2    Kapeller, J.3    Rappold, G.A.4
  • 50
    • 34347253875 scopus 로고    scopus 로고
    • Characterization of the novel human serotonin receptor subunits 5-HT3C, 5- HT3D, and 5-HT3E
    • Niesler B, Walstab J, Combrink S, Moeller D, Kapeller J, et al. (2007) Characterization of the novel human serotonin receptor subunits 5-HT3C, 5- HT3D, and 5-HT3E. Mol Pharmacol 72: 8-17.
    • (2007) Mol Pharmacol , vol.72 , pp. 8-17
    • Niesler, B.1    Walstab, J.2    Combrink, S.3    Moeller, D.4    Kapeller, J.5
  • 51
    • 0026033508 scopus 로고
    • Gastrointestinal serotonin: Depletion due to tetrahydrobiopterin deficiency induced by 2,4-diamino-6-hydroxypyrimidine administration
    • Kobayashi T, Hasegawa H, Kaneko E, Ichiyama A (1991) Gastrointestinal serotonin: Depletion due to tetrahydrobiopterin deficiency induced by 2,4-diamino-6-hydroxypyrimidine administration. J Pharmacol Exp Ther 256: 773-779.
    • (1991) J Pharmacol Exp Ther , vol.256 , pp. 773-779
    • Kobayashi, T.1    Hasegawa, H.2    Kaneko, E.3    Ichiyama, A.4
  • 52
    • 0036226603 scopus 로고    scopus 로고
    • BLAT - The BLAST-like alignment tool
    • Kent WJ (2002) BLAT - The BLAST-like alignment tool. Genome Res 12: 656-664.
    • (2002) Genome Res , vol.12 , pp. 656-664
    • Kent, W.J.1
  • 53
    • 0027450385 scopus 로고
    • Reverse transcription of R2Bm RNA is primed by a nick at the chromosomal target site: A mechanism for non-LTR retrotransposition
    • Luan DD, Korman MH, Jakubczak JL, Eickbush TH (1993) Reverse transcription of R2Bm RNA is primed by a nick at the chromosomal target site: A mechanism for non-LTR retrotransposition. Cell 72: 595-605.
    • (1993) Cell , vol.72 , pp. 595-605
    • Luan, D.D.1    Korman, M.H.2    Jakubczak, J.L.3    Eickbush, T.H.4
  • 54
    • 0032559061 scopus 로고    scopus 로고
    • Targeting of human retrotransposon integration is directed by the specificity of the L1 endonuclease for regions of unusual DNA structure
    • Cost GJ, Boeke JD (1998) Targeting of human retrotransposon integration is directed by the specificity of the L1 endonuclease for regions of unusual DNA structure. Biochemistry 37: 18081-18093.
    • (1998) Biochemistry , vol.37 , pp. 18081-18093
    • Cost, G.J.1    Boeke, J.D.2
  • 55
    • 0031055331 scopus 로고    scopus 로고
    • Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons
    • Jurka J (1997) Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons. Proc Natl Acad Sci U S A 94: 1872-1877.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 1872-1877
    • Jurka, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.