A mouse model of human L1 retrotransposition

Nature Genetics

Volumn 32, Issue 4, 2002, Pages 655-660

  Ostertag, Eric M ^a   DeBerardinis, Ralph J ^a   Goodier, John L ^a   Zhang, Yue ^a   Yang, Nuo ^a   Gerton, George L ^a   Kazazian Jr , Haig H ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; DNA TRANSPOSITION; EXPERIMENTAL MODEL; GENE EXPRESSION REGULATION; GENE INSERTION; GENE STRUCTURE; GENETIC LINE; GERM CELL; HUMAN; MAMMAL; MOUSE; MUTAGENESIS; NONHUMAN; OVARY; PRIORITY JOURNAL; PROGENY; PROMOTER REGION; RETROPOSON; TESTIS;

3' UNTRANSLATED REGIONS; 5' UNTRANSLATED REGIONS; ACROSIN; ACROSOME; ANIMALS; CELLS, CULTURED; DNA; GENETIC MARKERS; GREEN FLUORESCENT PROTEINS; HUMANS; LONG INTERSPERSED NUCLEOTIDE ELEMENTS; LUMINESCENT PROTEINS; MALE; MICE; MICE, TRANSGENIC; MODELS, ANIMAL; MODELS, GENETIC; MUTAGENESIS, INSERTIONAL; OPEN READING FRAMES; PROMOTER REGIONS (GENETICS); RETROELEMENTS; RNA, MESSENGER; SPERMATOZOA;

ANIMALIA; MAMMALIA;

EID: 0036899669     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1022     Document Type: Article

References (30)

1. The International Human Genome Sequencing Consortium. Nature 409, 860-921 (2001).
2. Ostertag, E.M. & Kazazian, H.H. Jr. Biology of mammalian L1 retrotransposons. Ann. Rev. Genet. 35, 501-538 (2001).
3. Sassaman, D.M. et al. Many human L1 elements are capable of retrotransposition. Nature Genet. 16, 37-43 (1997).
4. Moran, J.V. et al. High frequency retrotransposition in cultured mammalian cells. Cell 87, 917-927 (1996).
5. Branciforte, D. & Martin, S.L. Developmental and cell type specificity of LINE-1 expression in mouse testis: Implications for transposition. Mol. Cell. Biol. 14, 2584-2592 (1994).
6. Trelogan, S.A. & Martin, S.L. Tightly regulated, developmentally specific expression of the first open reading frame from LINE-1 during mouse embryogenesis. Proc. Natl Acad. Sci. USA 92, 1520-1524 (1995).
7. Nakanishi, T. et al. Real-time observation of acrosomal dispersal from mouse sperm using GFP as a marker protein. FEBS Lett. 449, 277-283 (1999).
8. Ostertag, E.M. et al. Determination of L1 retrotransposition kinetics in cultured cells. Nucleic Acids Res. 28, 1418-1423 (2000).
9. Schwahn, U. et al. Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nature Genet. 19, 327-332 (1998).
10. Kimberland, M.L. et al. Full-length human L1 insertions retain the capacity for high-frequency retrotransposition in cultured cells. Hum. Mol. Genet. 8, 1557-1560 (1999).
11. Romrell, L.J., Bellvé, A.R. & Fawcett, D.W. Separation of mouse spermatogenic cells by sedimentation velocity. A morphological characterization. Dev. Biol. 49, 119-131 (1976).
12. Welch, J.E., Schatte, E.C., O'Brien, D.A. & Eddy, E.M. Expression of a glyceraldehyde 3-phosphate dehydrogenase gene specific to mouse spermatogenic cells. Biol. Reprod. 46, 869-878 (1992).
13. Steger, K. Transcriptional and translational regulation of gene expression in haploid spermatids. Anat. Embryol. 199, 471-487 (1999).
14. Swergold, G.D. Identification, characterization, and cell specificity of a human LINE-1 promoter. Mol. Cell. Biol. 10, 6718-6729 (1990).
15. Loeb, D.D. et al. The sequence of a large L1Md element reveals a tandemly repeated 5′ end and several features found in retrotransposons. Mol. Cell. Biol. 6, 168-182 (1986).
16. Padgett, R.W., Hutchison, C.A. 3rd & Edgell, M.H. The F-type 5′ motif of mouse L1 elements: a major class of L1 termini similar to the A-type in organization but unrelated in sequence. Nucleic Acids Res. 16, 739-749 (1988).
17. Naas, T.P. et al. An actively retrotranposing, novel subfamily of mouse L1 elements. EMBO J. 17, 590-597 (1998).
18. Luan, D.D., Korman, M.H., Jakubczak, J.L. & Eickbush, T.H. Reverse transcription of R2Bm RNA is primed by a nick at the chromosomal target site: A mechanism for non-LTR retrotransposable elements. Cell 72, 595-605 (1993).
19. Ostertag, E.M. & Kazazian, H.H. Jr. Twin Priming, a proposed mechanism for the creation of inversions in L1 retrotransposition. Genet. Res. 11, 2059-2065 (2001).
20. Feng, Q., Moran, J.V., Kazazian, H.H. Jr. & Boeke, J.D. Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition. Cell 87, 905-916 (1996).
21. Jurka, J. Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons. Proc. Natl Acad. Sci. USA 94, 1872-1877 (1997).
22. Cost, G.J., & Boeke, J.D. Targeting of human retrotransposon integration is directed by the specificity of the L1 endonuclease for regions of unusual DNA structure. Biochem. 37, 18081-18093 (1998).
23. Boissinot, S., Chevret, P. & Furano, A.V. L1 (LINE-1) retrotransposon evolution and amplification in recent human history. Mol. Biol. Evol. 17, 915-928 (2000).
24. Kazazian, H.H. Jr. An estimated frequency of endogenous insertional mutations in humans. Nature Genet. 22, 130 (1999).
25. Li, X. et al. Frequency of recent retrotransposition events in the human factor IX gene. Hum. Mutat. 17, 511-519 (2001).
26. Jensen, S., Gassama, M.P. & Heidmann, T. Taming of transposable elements by homology-dependent gene silencing. Nature Genet. 21, 209-212 (1999).
27. Hohjoh, H. & Singer, M.F. Cytoplasmic ribonucleoprotein complexes containing human LINE-1 protein and RNA. EMBO J. 15, 630-639 (1996).
28. Kolosha, V.O. & Martin, S.L. 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 (1997).
29. Mathias, S.L., Scott, A.F., Kazazian, H.H., Boeke, J.D. & Gabriel, A. Reverse transcriptase encoded by a human transposable element, Science 254, 1808-1810 (1991).
30. Fanning, T. & Singer, M. The line-1 DNA-sequences in 4 mammalian orders predicts proteins that conserve homologies to retrovirus proteins. Nucleic Acids Res, 15, 2251-2260 (1987).