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Volumn 17, Issue 6, 2001, Pages 511-519

Frequency of recent retrotransposition events in the human factor IX gene

Author keywords

Evolution; F9; Factor IX; Genome; Germline; Homology; Insertion; LINE1; Mutation rate; Retrotransposition

Indexed keywords

BLOOD CLOTTING FACTOR 9;

EID: 0035024366     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1134     Document Type: Article
Times cited : (59)

References (33)
  • 3
    • 0034086210 scopus 로고    scopus 로고
    • L1 (LINE-1) retro-transposon evolution and amplification in recent human history
    • Boissinot S, Chevret P, Furano AV. 2000. L1 (LINE-1) retro-transposon evolution and amplification in recent human history. Mol Biol Evol 17:915-928.
    • (2000) Mol Biol Evol , vol.17 , pp. 915-928
    • Boissinot, S.1    Chevret, P.2    Furano, A.V.3
  • 5
    • 0021905749 scopus 로고
    • Mutation in human populations
    • Harris H, Hirschhorn K, editors New York: Plenum Press
    • Crow JF, Denniston C. 1985. Mutation in human populations. In: Harris H, Hirschhorn K, editors. Advances in human genetics. New York: Plenum Press. p 59-123.
    • (1985) Advances in Human Genetics , pp. 59-123
    • Crow, J.F.1    Denniston, C.2
  • 6
    • 0002300369 scopus 로고
    • The recent evolution of mammalian repetitive DNA elements
    • Deininger PL, Daniels GR. 1986. The recent evolution of mammalian repetitive DNA elements. Trends Genet 2:76-80.
    • (1986) Trends Genet , vol.2 , pp. 76-80
    • Deininger, P.L.1    Daniels, G.R.2
  • 8
    • 0033611501 scopus 로고    scopus 로고
    • High genomic deleterious mutation rates in hominids
    • Eyre-Walker A, Keightley PD. 1999. High genomic deleterious mutation rates in hominids. Nature 397:344-347.
    • (1999) Nature , vol.397 , pp. 344-347
    • Eyre-Walker, A.1    Keightley, P.D.2
  • 11
    • 77951509701 scopus 로고
    • The rate of spontaneous mutation of a human gene
    • Haldane JBS. 1935. The rate of spontaneous mutation of a human gene. J Genet 31:317-326.
    • (1935) J Genet , vol.31 , pp. 317-326
    • Haldane, J.B.S.1
  • 13
    • 0027163832 scopus 로고
    • A new subfamily of recently retroposed human Alu repeats
    • Jurka J. 1993. A new subfamily of recently retroposed human Alu repeats. Nucleic Acids Res 21:2252-2252.
    • (1993) Nucleic Acids Res , vol.21 , pp. 2252-2252
    • Jurka, J.1
  • 14
    • 0023867459 scopus 로고
    • Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man
    • Kazazian Jr HH, Wong C, Youssoufian H, Scott AF, Phillips DG, Antonarakis SE. 1988. Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature 332:164-166.
    • (1988) Nature , vol.332 , pp. 164-166
    • Kazazian, H.H.1    Wong, C.2    Youssoufian, H.3    Scott, A.F.4    Phillips, D.G.5    Antonarakis, S.E.6
  • 15
    • 0032989268 scopus 로고    scopus 로고
    • An estimated frequency of endogenous insertional mutations in humans
    • Kazazian Jr HH. 1999. An estimated frequency of endogenous insertional mutations in humans. Nat Genet 22:130-130.
    • (1999) Nat Genet , vol.22 , pp. 130-130
    • Kazazian, H.H.1
  • 16
    • 0025125947 scopus 로고
    • Mutations causing hemophilia B: Direct estimate of the underlying rates of spontaneous germline transitions, transversions, and deletions in the human gene
    • Koeberl DD, Bottema CDK, Ketterling RP, Bridge PJ, Lillicrap DP, Sommer SS. 1990. Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germline transitions, transversions, and deletions in the human gene. Am J Hum Genet 47:202-217.
    • (1990) Am J Hum Genet , vol.47 , pp. 202-217
    • Koeberl, D.D.1    Bottema, C.D.K.2    Ketterling, R.P.3    Bridge, P.J.4    Lillicrap, D.P.5    Sommer, S.S.6
  • 17
    • 0028605624 scopus 로고
    • Parameters affecting the sensitive ties of dideoxy fingerprinting and SSCP
    • Liu Q, Sommer SS. 1994. Parameters affecting the sensitive ties of dideoxy fingerprinting and SSCP. PCR Methods Appl 4:97-108.
    • (1994) PCR Methods Appl , vol.4 , pp. 97-108
    • Liu, Q.1    Sommer, S.S.2
  • 18
    • 0028800690 scopus 로고
    • Restriction endonuclease fingerprinting (REF): A sensitive method for screening mutations in long, contiguous segments of DNA
    • Liu Q, Sommer SS. 1995. Restriction endonuclease fingerprinting (REF): a sensitive method for screening mutations in long, contiguous segments of DNA. Biotechniques 18:470-477.
    • (1995) Biotechniques , vol.18 , pp. 470-477
    • Liu, Q.1    Sommer, S.S.2
  • 19
    • 0027258342 scopus 로고
    • Insertion of a 5′ truncated L1 element into the 3′ end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy
    • Narita N, Nishio H, Kitoh Y, Ishikawa Y, Minami R, Nakamura H, Matsuo M. 1993. Insertion of a 5′ truncated L1 element into the 3′ end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy. J Clin Invest 91:1862-1867.
    • (1993) J Clin Invest , vol.91 , pp. 1862-1867
    • Narita, N.1    Nishio, H.2    Kitoh, Y.3    Ishikawa, Y.4    Minami, R.5    Nakamura, H.6    Matsuo, M.7
  • 22
    • 0021099196 scopus 로고
    • Retroposons defined
    • Rogers J. 1983. Retroposons defined. Nature 301:460.
    • (1983) Nature , vol.301 , pp. 460
    • Rogers, J.1
  • 24
    • 0026611384 scopus 로고
    • Dideoxy fingerprinting (ddF): A rapid and efficient screen for the presence of mutations
    • Sarkar G, Yoon H-S, Sommer SS. 1992. Dideoxy fingerprinting (ddF): a rapid and efficient screen for the presence of mutations. Genomics 13:441-443.
    • (1992) Genomics , vol.13 , pp. 441-443
    • Sarkar, G.1    Yoon, H.-S.2    Sommer, S.S.3
  • 25
    • 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
  • 27
    • 0026512912 scopus 로고
    • PCR amplification of specific alleles (PASA) is a general method for rapidly detecting known single-base changes
    • Sommer SS, Groszbach AR, Bottema CDK. 1992. PCR amplification of specific alleles (PASA) is a general method for rapidly detecting known single-base changes. Biotechniques 12:82-87.
    • (1992) Biotechniques , vol.12 , pp. 82-87
    • Sommer, S.S.1    Groszbach, A.R.2    Bottema, C.D.K.3
  • 28
    • 0029790560 scopus 로고    scopus 로고
    • The factor IX gene as a model for analysis of human germline mutations: An update
    • Sommer SS, Ketterling RP. 1996. The factor IX gene as a model for analysis of human germline mutations: an update. Hum Mol Genet 5:1505-1514.
    • (1996) Hum Mol Genet , vol.5 , pp. 1505-1514
    • Sommer, S.S.1    Ketterling, R.P.2
  • 32
    • 0024500697 scopus 로고
    • Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers
    • Winship PR, Rees DJG, Alkan M. 1989. Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers. Lancet 1 (8639):631-634.
    • (1989) Lancet , vol.1 , Issue.8639 , pp. 631-634
    • Winship, P.R.1    Rees, D.J.G.2    Alkan, M.3
  • 33
    • 0034145807 scopus 로고    scopus 로고
    • Identification of a novel large F9 gene mutation - An insertion of an Alu repeated DNA element in exon e of the factor 9 gene
    • Wulff K, Gazda H, Schroder W, Robicka-Milewska R, Herrmann FH. 2000. Identification of a novel large F9 gene mutation - an insertion of an Alu repeated DNA element in exon e of the factor 9 gene. Hum Mutat (Online) 15:299.
    • (2000) Hum Mutat (Online) , vol.15 , pp. 299
    • Wulff, K.1    Gazda, H.2    Schroder, W.3    Robicka-Milewska, R.4    Herrmann, F.H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.