Full-length human L1 insertions retain the capacity for high frequency retrotransposition in cultured cells

Human Molecular Genetics

Volumn 8, Issue 8, 1999, Pages 1557-1560

  Kimberland, Michelle L ^a   Divoky, Vladimir ^b   Prchal, Josef ^b   Schwahn, Uwe ^c   Berger, Wolfgang ^c   Kazazian Jr , Haig H ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b Center for Palliative Care   (United States)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN;

ARTICLE; CONSENSUS SEQUENCE; CONTROLLED STUDY; GENE INSERTION SEQUENCE; GLOBIN GENE; HELA CELL; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RETROPOSON;

EID: 0032816281     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.8.1557     Document Type: Article

References (25)

1. Swergold, G.D. (1990) Identification, characterization, and cell specificity of a human LINE-1 promoter. Mol. Cell. Biol., 10, 6718-6729.
2. Kazazian, H.H.Jr and Moran, J.V. (1998) The impact of L1 retrotransposons on the human genome. Nature Genet., 19, 19-24.
3. Hohjoh, H. and Singer, M.F. (1997) Sequence-specific single-strand RNA binding protein encoded by the human LINE-1 retrotransposon. EMBO J., 16, 6034-6043.
4. Kolosha, V.O. and Martin, S.L. (1997) In vitro properties of the first ORF protein from mouse LINE-1 support its role in ribonucleoprotein particle formation during retrotransposition. Proc. Natl Acad. Sci. USA, 94, 10155-10160.
5. Feng, Q., Moran, J.V., Kazazian, H.H. and Boeke, J.D. (1996) Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition. Cell, 87, 905-916.
6. Mathias, S.L., Scott, A.F., Kazazian, H.H.Jr, Boeke, J.D. and Gabriel, A. (1991) Reverse transcriptase encoded by a human transposable element. Science. 254, 1808-1810.
7. Fanning, T. and Singer, M. (1987) The LINE-1 DNA sequences in four mammalian orders predict proteins that conserve homologies to retrovirus proteins. Nucleic Acids Res., 15, 2251-2260.
8. Hutchison, C.A., Hardies, S.C., Loeb, D.D., Shehee, W.R. and Edgell, M.H. (1989) LINES and related retroposons: long interspersed sequences in the eucaryotic genome. In Berg. D.E. and Howe, M.M. (eds), Mobile DNA. ASM Press, Washington, DC, pp. 593-617.
9. Sassaman, D.M., Dombroski, B.A., Moran, J.V., Kimberland, M.L., Naas, T.P., DeBerardinis, R.J., Gabriel, A., Swergold, G.D. and Kazazian, H.H.Jr (1997) Many human L1 elements are capable of retrotransposition. Nature Genet., 16, 37-43.
10. Kazazian, H.H.Jr, Wong, C., Youssoufian, H., Scott, A.F., Phillips, D.G. and Antonarakis, S.E. (1988) Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature, 332, 164-166.
11. Woods-Samuels, P., Wong, C., Mathias, S.L., Scott, A.F., Kazazian, H.Jr and Antonarakis, S.E. (1989) Characterization of a nondeleterious L1 insertion in an intron of the human factor VIII gene and further evidence of open reading frames in functional L1 elements. Genomics, 4, 290-296.
12. Holmes, S.E., Dombrowski, B.A., Krebs, C.M., Boehm, C.D. and Kazazian, H.H.Jr (1994) A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion. Nature Genet., 7, 143-148.
13. Narita, N., Nishio, H., Kitoh, Y., Ishikawa, Y., Ishikawa, Y., Minami, R., Nakamura, H. and Matsuo, M. (1993) Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dy strophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy. J. Clin. Invest., 91, 1862-1867.
14. Miki, Y., Nishisho, I., Horii, A., Miyoshi, Y., Utsunomiya, J., Kinzler, K.W., Vogelstein, B. and Nakamura, Y. (1992) Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer. Cancer Res., 52, 643-645.
15. Divoky, V., Indra, K., Mrug, M., Brabec, V., Huisman, T.H.J. and Prchal, J.T. (1996) A novel mechanism of β-thalassemia. The insertion of L1 retrotransposable element into β globin IVSII. Blood, 88, 148a.
16. Yoshida, K., Nakamura, A., Yazaki, M., Ikeda, S. and Takeda, S. (1998) Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy. Hum. Mol. Genet., 7, 1129-1132.
17. Schwahn, U., Lenzner, S., Dong, J., Feil, S., Hinzmann, B., van Duijnhoven, G., Kirschner, R., Hemberger, M., Bergen, A.A., Rosenberg, T., Pinckers, A.J., Fundele, R., Rosenthal, A., Cremers, F.P., Ropers, H.H. and Berger, W. (1998) Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nature Genet., 19, 327-332.
18. Meischl, C., De Boer, M. and Roos, D. (1998) Chronic granulomatous disease caused by line-1 retrotransposons. Eur. J. Haematol., 60, 349-350.
19. Skowronski, J., Fanning, T.G. and Singer, M.F. (1988) Unit-length line-1 transcripts in human teratocarcinoma cells. Mol. Cell. Biol., 8, 1385-1397.
20. Moran, J.V., Holmes, S.E., Naas, T.P., DeBerardinis, R.J., Boeke, J.D. and Kazazian, H.H. (1996) High frequency retrotransposition in cultured mammalian cells. Cell, 87, 917-927.
21. Moran, J.V., DeBerardinis, RJ. and Kazazian, H.H.Jr (1999) Exon shuffling by L1 retrotransposition. Science, 283, 1530-1534.
22. Dombroski, B.A., Mathias, S.L., Nanthakumar, E., Scott, A.F. and Kazazian, H.Jr (1991) Isolation of an active human transposable element. Science, 254, 1805-1808.
23. Naas, T.P., DeBerardinis, R.J., Moran, J.V., Ostertag, E.M., Kingsmore, S.F., Seidin, M.F., Hayashizaki, Y., Martin, S.L. and Kazazian, H.H. (1998) An actively retrotransposing, novel subfamily of mouse L1 elements. EMBO J., 17, 590-597.
24. Yoder, J.A., Walsh, C.P. and Bestor, T.H. (1997) Cytosine methylation and the ecology of intragenomic parasites. Trends Genet., 13, 335-340.
25. Sassaman, D.M. (1996) Characterization of five novel human L1 elements capable of retrotransposition. Doctoral dissertation, Johns Hopkins University, Baltimore, MD.