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Volumn 105, Issue 49, 2008, Pages 19366-19371

L1 recombination-associated deletions generate human genomic variation

Author keywords

LINE 1; Nonallelic homologous; Nonhomologous end joining; Retrotransposon

Indexed keywords

DNA;

EID: 58049196782     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0807866105     Document Type: Article
Times cited : (120)

References (36)
  • 1
    • 2042437650 scopus 로고    scopus 로고
    • Initial sequencing and analysis of the human genome
    • Lander ES, et al. (2001) Initial sequencing and analysis of the human genome. Nature 409:860-921.
    • (2001) Nature , vol.409 , pp. 860-921
    • Lander, E.S.1
  • 2
    • 0028920059 scopus 로고
    • Ancestral, mammalian-wide subfamilies of LINE-1 repetitive sequences
    • Smit AF, Toth G, Riggs AD, Jurka J (1995) Ancestral, mammalian-wide subfamilies of LINE-1 repetitive sequences. J Mol Biol 246:401-417.
    • (1995) J Mol Biol , vol.246 , pp. 401-417
    • Smit, A.F.1    Toth, G.2    Riggs, A.D.3    Jurka, J.4
  • 3
    • 0035163939 scopus 로고    scopus 로고
    • Nucleic acid chaperone activity of the ORF1 protein from the mouse LINE-1 retrotransposon
    • Martin SL, Bushman FD (2001) Nucleic acid chaperone activity of the ORF1 protein from the mouse LINE-1 retrotransposon. Mol Cell Biochem 21:467-475.
    • (2001) Mol Cell Biochem , vol.21 , pp. 467-475
    • Martin, S.L.1    Bushman, F.D.2
  • 5
    • 0009969062 scopus 로고    scopus 로고
    • Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition
    • Feng Q, Moran JV, Kazazian HH, Jr, Boeke JD (1996) Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition. Cell 87:905-916.
    • (1996) Cell , vol.87 , pp. 905-916
    • Feng, Q.1    Moran, J.V.2    Kazazian Jr, H.H.3    Boeke, J.D.4
  • 6
    • 0030606320 scopus 로고    scopus 로고
    • High frequency retrotransposition in cultured mammalian cells
    • Moran JV, et al. (1996) High frequency retrotransposition in cultured mammalian cells. Cell 87:917-927.
    • (1996) Cell , vol.87 , pp. 917-927
    • Moran, J.V.1
  • 7
    • 0030903621 scopus 로고    scopus 로고
    • Many human L1 elements are capable of retrotransposition
    • Sassaman DM,et al. (1997) Many human L1 elements are capable of retrotransposition. Nat Genet 16:37-43.
    • (1997) Nat Genet , vol.16 , pp. 37-43
    • Sassaman, D.M.1
  • 8
    • 17344370076 scopus 로고    scopus 로고
    • The impact of L1 retrotransposons on the human genome
    • Kazazian HH, Jr, Moran JV (1998) The impact of L1 retrotransposons on the human genome. Nat Genet 19:19-24.
    • (1998) Nat Genet , vol.19 , pp. 19-24
    • Kazazian Jr, H.H.1    Moran, J.V.2
  • 9
    • 0035208118 scopus 로고    scopus 로고
    • Twin priming: A proposed mechanism for the creation of inversions in l1 retrotransposition
    • Ostertag EM, Kazazian HH, Jr (2001) Twin priming: A proposed mechanism for the creation of inversions in l1 retrotransposition. Genome Res 11:2059-2065.
    • (2001) Genome Res , vol.11 , pp. 2059-2065
    • Ostertag, E.M.1    Kazazian Jr, H.H.2
  • 10
    • 0036073862 scopus 로고    scopus 로고
    • A comprehensive analysis of recently integrated human Ta L1 elements
    • Myers JS, et al. (2002) A comprehensive analysis of recently integrated human Ta L1 elements. Am J Hum Genet 71:312-326.
    • (2002) Am J Hum Genet , vol.71 , pp. 312-326
    • Myers, J.S.1
  • 11
    • 0037965788 scopus 로고    scopus 로고
    • Hot L1s account for the bulk of retrotransposition in the human population
    • Brouha B, et al. (2003) Hot L1s account for the bulk of retrotransposition in the human population. Proc Natl Acad Sci USA 100:5280-5285.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 5280-5285
    • Brouha, B.1
  • 12
    • 0031773760 scopus 로고    scopus 로고
    • Identification of genes involved in repair of DNA double-strand breaks in mammalian cells
    • Jeggo PA (1998) Identification of genes involved in repair of DNA double-strand breaks in mammalian cells. Radiat Res 150:S80-91.
    • (1998) Radiat Res , vol.150
    • Jeggo, P.A.1
  • 13
    • 0034025077 scopus 로고    scopus 로고
    • Homologous and nonhomologous recombination resulting in deletion: Effects of p53 status, microhomology, and repetitive DNA length and orientation
    • Gebow D, Miselis N, Liber HL (2000) Homologous and nonhomologous recombination resulting in deletion: Effects of p53 status, microhomology, and repetitive DNA length and orientation. Mol Cell Biol 20:4028-4035.
    • (2000) Mol Cell Biol , vol.20 , pp. 4028-4035
    • Gebow, D.1    Miselis, N.2    Liber, H.L.3
  • 14
    • 33745244299 scopus 로고    scopus 로고
    • Human genomic deletions mediated by recombination between Alu elements
    • Sen SK, 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
  • 15
    • 0032478502 scopus 로고    scopus 로고
    • Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease
    • Burwinkel B, Kilimann MW (1998) Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease. J Mol Biol 277:513-517.
    • (1998) J Mol Biol , vol.277 , pp. 513-517
    • Burwinkel, B.1    Kilimann, M.W.2
  • 16
    • 0033361022 scopus 로고    scopus 로고
    • LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis
    • Segal Y, et al. (1999) LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. Am J Hum Genet 64:62-69.
    • (1999) Am J Hum Genet , vol.64 , pp. 62-69
    • Segal, Y.1
  • 17
    • 46749104796 scopus 로고    scopus 로고
    • Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence
    • Temtamy SA, et al. (2008) Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence. Hum Mutat 29:931-938.
    • (2008) Hum Mutat , vol.29 , pp. 931-938
    • Temtamy, S.A.1
  • 18
    • 0023634938 scopus 로고
    • Phylogenetic relations of humans and African apes from DNA sequences in the psi eta-globin region
    • Miyamoto MM, Slightom JL, Goodman M (1987) Phylogenetic relations of humans and African apes from DNA sequences in the psi eta-globin region. Science 238:369-373.
    • (1987) Science , vol.238 , pp. 369-373
    • Miyamoto, M.M.1    Slightom, J.L.2    Goodman, M.3
  • 19
    • 0032088632 scopus 로고    scopus 로고
    • Toward a phylogenetic classification of Primates based on DNA evidence complemented by fossil evidence
    • Goodman M, et al. (1998) Toward a phylogenetic classification of Primates based on DNA evidence complemented by fossil evidence. Mol Phylogenet Evol 9:585-598.
    • (1998) Mol Phylogenet Evol , vol.9 , pp. 585-598
    • Goodman, M.1
  • 20
    • 35948983427 scopus 로고    scopus 로고
    • Alu recombination-mediated structural deletions in the chimpanzee genome
    • Han K, et al. (2007) Alu recombination-mediated structural deletions in the chimpanzee genome. PLoS Genet 3:1939-1949.
    • (2007) PLoS Genet , vol.3 , pp. 1939-1949
    • Han, K.1
  • 21
    • 23044500870 scopus 로고    scopus 로고
    • Genomic rearrangements by LINE-1 insertion-mediated deletion in the human and chimpanzee lineages
    • Han K, 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
  • 22
    • 34748869000 scopus 로고    scopus 로고
    • Comparative analysis of transposed element insertion within human and mouse genomes reveals Alu's unique role in shaping the human transcriptome
    • Sela N, et al. (2007) Comparative analysis of transposed element insertion within human and mouse genomes reveals Alu's unique role in shaping the human transcriptome. Genome Biol 8:R127.
    • (2007) Genome Biol , vol.8
    • Sela, N.1
  • 23
    • 0036904274 scopus 로고    scopus 로고
    • Sorting out the cellular functions of sorting nexins
    • Worby CA, Dixon JE (2002) Sorting out the cellular functions of sorting nexins. Nat Rev Mol Cell Biol 3:919-931.
    • (2002) Nat Rev Mol Cell Biol , vol.3 , pp. 919-931
    • Worby, C.A.1    Dixon, J.E.2
  • 24
    • 12744281102 scopus 로고    scopus 로고
    • Sorting nexins- unifying trends and new perspectives
    • Carlton J, Bujny M, Rutherford A, Cullen P (2005) Sorting nexins- unifying trends and new perspectives. Traffic 6(2):75- 82.
    • (2005) Traffic , vol.6 , Issue.2 , pp. 75-82
    • Carlton, J.1    Bujny, M.2    Rutherford, A.3    Cullen, P.4
  • 25
    • 58049215722 scopus 로고    scopus 로고
    • Hall TA (1999) BioEdit: A user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT. Nucl Acids Symp Series 41:95-98.
    • Hall TA (1999) BioEdit: A user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT. Nucl Acids Symp Series 41:95-98.
  • 26
    • 0029976325 scopus 로고    scopus 로고
    • Cell cycle and genetic requirements of two pathways of nonhomologous end-joining repair of double-strand breaks in Saccharomyces cerevisiae
    • Moore JK, Haber JE (1996) Cell cycle and genetic requirements of two pathways of nonhomologous end-joining repair of double-strand breaks in Saccharomyces cerevisiae. Mol Cell Biol 16:2164-2173.
    • (1996) Mol Cell Biol , vol.16 , pp. 2164-2173
    • Moore, J.K.1    Haber, J.E.2
  • 27
    • 5144225797 scopus 로고    scopus 로고
    • DNA double strand break repair in human bladder cancer is error prone and involves microhomology-associated end-joining
    • Bentley J, Diggle CP, Harnden P, Knowles MA, Kiltie AE (2004) DNA double strand break repair in human bladder cancer is error prone and involves microhomology-associated end-joining. Nucleic Acids Res 32:5249-5259.
    • (2004) Nucleic Acids Res , vol.32 , pp. 5249-5259
    • Bentley, J.1    Diggle, C.P.2    Harnden, P.3    Knowles, M.A.4    Kiltie, A.E.5
  • 28
    • 30044433182 scopus 로고    scopus 로고
    • Molecular evolution and tempo of amplification of human LINE-1 retrotransposons since the origin of primates
    • Khan H, Smit A, Boissinot S (2006) Molecular evolution and tempo of amplification of human LINE-1 retrotransposons since the origin of primates. Genome Res 16:78-87.
    • (2006) Genome Res , vol.16 , pp. 78-87
    • Khan, H.1    Smit, A.2    Boissinot, S.3
  • 29
    • 34547609849 scopus 로고    scopus 로고
    • Evolutionary history of mammalian transposons determined by genome-wide defragmentation
    • Giordano J, et al. (2007) Evolutionary history of mammalian transposons determined by genome-wide defragmentation. PLoS Comput Biol 3:e137.
    • (2007) PLoS Comput Biol , vol.3
    • Giordano, J.1
  • 30
    • 33846912203 scopus 로고    scopus 로고
    • Different evolutionary fates of recently integrated human and chimpanzee LINE-1 retrotransposons
    • Lee J, 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
  • 31
    • 0023946286 scopus 로고
    • Human genome organization: Alu, lines, and the molecular structure of metaphase chromosome bands
    • Korenberg JR, Rykowski MC (1988) Human genome organization: Alu, lines, and the molecular structure of metaphase chromosome bands. Cell 53:391-400.
    • (1988) Cell , vol.53 , pp. 391-400
    • Korenberg, J.R.1    Rykowski, M.C.2
  • 32
    • 0034983677 scopus 로고    scopus 로고
    • Selection against deleterious LINE-1-containing loci in the human lineage
    • Boissinot S, Entezam A, Furano AV (2001) Selection against deleterious LINE-1-containing loci in the human lineage. Mol Biol Evol 18:926-935.
    • (2001) Mol Biol Evol , vol.18 , pp. 926-935
    • Boissinot, S.1    Entezam, A.2    Furano, A.V.3
  • 34
    • 1842717957 scopus 로고    scopus 로고
    • Comparative recombination rates in the rat, mouse, and human genomes
    • Jensen-Seaman MI, et al. (2004) Comparative recombination rates in the rat, mouse, and human genomes. Genome Res 14:528-538.
    • (2004) Genome Res , vol.14 , pp. 528-538
    • Jensen-Seaman, M.I.1
  • 35
    • 0023948714 scopus 로고
    • Unit-length line-1 transcripts in human teratocarcinoma cells
    • Skowronski J, Fanning TG, Singer MF (1988) Unit-length line-1 transcripts in human teratocarcinoma cells. Mol Cell Biol 8:1385-1397.
    • (1988) Mol Cell Biol , vol.8 , pp. 1385-1397
    • Skowronski, J.1    Fanning, T.G.2    Singer, M.F.3
  • 36
    • 17444413395 scopus 로고    scopus 로고
    • Alu Retrotransposition-mediated Deletion
    • Callinan PA, et al. (2005) Alu Retrotransposition-mediated Deletion. J Mol Biol 348:791-800.
    • (2005) J Mol Biol , vol.348 , pp. 791-800
    • Callinan, P.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.