Transduction of 3'-flanking sequences is common in L1 retrotransposition

Human Molecular Genetics

Volumn 9, Issue 4, 2000, Pages 653-657

  Goodier, John L ^a   Ostertag, Eric M ^a   Kazazian Jr , Haig H ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; NUCLEOTIDE;

ARTICLE; DATA BASE; DIPLOIDY; DNA FLANKING REGION; DNA SEQUENCE; DNA TRANSPOSITION; GENE INSERTION; GENE LOCATION; GENETIC TRANSDUCTION; HUMAN; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; POLYADENYLATION; PRIORITY JOURNAL;

EID: 0034161961     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.4.653     Document Type: Article

References (25)

1. Smit, A.F. (1996) The origin of interspersed repeats in the human genome. Curr. Opin. Genet. Dev., 6, 743-748.
2. Kazazian Jr, H.H., 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.
3. Dombroski, B.A., Mathias, S.L., Nanthakumar, E., Scott, A.F. and Kazazian Jr, H. (1991) Isolation of an active human transposable element. Science, 254, 1805-1808.
4. Kazazian Jr, H.H. (1999) An estimated frequency of endogenous insertional mutations in humans [letter]. Nature Genet., 22, 130.
5. Kondo-Iida, E., Kobayashi, K., Watanabe, M., Sasaki, J., Kumagai, T., Koide, H., Saito, K., Osawa, M., Nakamura, Y. and Toda, T. (1999) Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum. Mol. Genet., 8, 2303-2309.
6. Burwinkel, B. and Kilimann, M.W. (1998) Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease. J. Mol. Biol., 277, 513-517.
7. Segal, Y., Peissel, B., Renieri, A., de Marchi, M., Ballabio, A., Pei, Y. and Zhou, J. (1999) LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. Am. J. Hum. Genet., 64, 62-69.
8. Colgan, D.F. and Manley, J.L. (1997) Mechanism and regulation of mRNA polyadenylation. Genes Dev., 11, 2755-2766.
9. 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.
10. Holmes, S.E., Dombrowski, B.A., Krebs, C.M., Boehm, C.D. and Kazazian Jr, H.H. (1994) A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion. Nature Genet., 7, 143-148.
11. McNaughton, J.C., Hughes, G., Jones, W.A., Stockwell, P.A., Klamut, H.J. and Petersen, G.B. (1997) The evolution of an intron: analysis of a long, deletion-prone intron in the human dystrophin gene. Genomics, 40, 294-304.
12. Rozmahel, R., Heng, H.H., Duncan, A.M., Shi, X.M., Rommens, J.M. and Tsui, L.C. (1997) Amplification of CFTR exon 9 sequences to multiple locations in the human genome. Genomics, 45, 554-561.
13. 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.
14. Moran, J.V., DeBerardinis, R.J. and Kazazian Jr, H.H. (1999) Exon shuffling by L1 retrotransposition. Science, 283, 1530-1534.
15. Carswell, S. and Alwine, J.C. (1989) Efficiency of utilization of the simian virus 40 late polyadenylation site: effects of upstream sequences. Mol. Cell. Biol., 9, 4248-4258.
16. Niwa, M., Rose, S.D. and Berget. S.M. (1990) In vitro polyadenylation is stimulated by the presence of an upstream intron. Genes Dev., 4, 1552-1559.
17. Grimaldi, G., Skowronski, J. and Singer, M.F. (1984) Defining the beginning and end of Kpn1 family segments. EMBO J., 3, 1753-1759.
18. 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.
19. Saxton, J.A. and Martin, S.L. (1998) Recombination between subtypes creates a mosaic lineage of LINE-1 that is expressed and actively retrotransposing in the mouse genome. J. Mol. Biol., 280, 611-622.
20. Martin, S.L. (1995) Characterization of a LINE-1 cDNA that originated from RNA present in ribonucleoprotein particles: implications for the structure of an active mouse LINE-1. Gene, 153, 261-266.
21. 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 Jr, H.H. (1997) Many human L1 elements are capable of retrotransposition. Nature Genet., 16, 37-43.
22. Kimberland, M.L., Divoky, V., Prchal, J., Schwahn, U., Berger, W. and Kazazian Jr, H.H. (1999) Full-length human L1 insertions retain the capacity for high frequency retrotransposition in cultured cells. Hum. Mol. Genet., 8, 1557-1560.
23. DeBerardinis, R.J., Goodier, J.L., Ostertag, E.M. and Kazazian Jr, H.H. (1998) Rapid amplification of a retrotransposon subfamily is evolving the mouse genome. Nature Genet., 20, 288-290.
24. Naas, T.P., DeBerardinis, R.J., Moran, J.V., Ostertag, E.M., Kingsmore, S.F., Seldin, 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.
25. Loeb, D.D., Padgett, R.W., Hardies, S.C., Shehee, W.R., Comer, M.B., Edgell, M.H. and Hutchison, C.D. (1986) 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.