The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Full-Length Human L1 Insertions Retain the Capacity for High Frequency Retrotransposition in Cultured Cells
Open accessAbstract
Functional L1 elements are autonomous retrotransposons that can insert into human genes and cause disease. To date, 10 of 12 known L1 retrotranspositions into human genes have been found to be 5"-truncated and incapable of further retrotransposition. Here we report the nucleotide sequences of the two full-length L1 elements, L1beta-thal and L1RP, that have inserted into the beta-globin and retinitis pigmentosa-2 (RP2) genes, respectively. L1beta-thal is 99. 4% identical to a consensus sequence of active human L1s, while L1RP is 99.9% identical. Both elements retain impressive capacity for high frequency retrotransposition in cultured HeLa cells. Indeed, L1RP is the most active L1 isolated to date. Our data indicate that not all L1 insertions into human genes are 'dead on arrival'. Our findings also lend further credence to the concept of cis preference, that the proteins encoded by a particular L1 preferentially act upon their encoding RNA as opposed to other L1 RNAs.
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Citations
Cites
Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition
Feng, Q., Moran, J. V., Kazazian, H. H., & Boeke, J. D. (1996) · Cell · doi:10.1016/s0092-8674(00)81997-2 · Cited by 1,139
Self-citation
Cited by
Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216
Hot L1s account for the bulk of retrotransposition in the human population
Brouha, B., Schustak, J., Badge, R. M., Lutz-Prigge, S., Farley, A. H., Moran, J. V., & Kazazian, H. H. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0831042100 · Cited by 1,073
Self-citationLINE-1 Retrotransposition Activity in Human Genomes
Beck, C. R., Collier, P., Macfarlane, C., Malig, M., Kidd, J. M., Eichler, E. E., Badge, R. M., & Moran, J. V. (2010) · Cell · doi:10.1016/j.cell.2010.05.021 · Cited by 632
LINE-1 elements in structural variation and disease
Beck, C. R., Garcia-Perez, J. L., Badge, R. M., & Moran, J. V. (2011) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082509-141802 · Cited by 615
An evolutionary arms race between KRAB zinc-finger genes ZNF91/93 and SVA/L1 retrotransposons
Jacobs, F. M. J., Greenberg, D., Nguyen, N., Haeussler, M., Ewing, A. D., Katzman, S., Paten, B., Salama, S. R., & Haussler, D. (2014) · Nature · doi:10.1038/nature13760 · Cited by 506
Metadata
- Authors
- Kimberland, M. L., Divoky, V., Prchal, J., Schwahn, U., Berger, W., & Kazazian, H. H.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1999-08-01
- Volume
- 8
- Issue
- 8
- Pages
- 1557-1560
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2144623802
- Cited by
- 171
- References
- 1
- FWCI
- 11.97
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Kimberland, M. L., Divoky, V., Prchal, J., Schwahn, U., Berger, W., & Kazazian, H. H. (1999). Full-Length Human L1 Insertions Retain the Capacity for High Frequency Retrotransposition in Cultured Cells. Human Molecular Genetics. https://doi.org/10.1093/hmg/8.8.1557
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