The DOI matches its Crossref record; 16 of the 16 references it cites were found in a registry or an index.
Progress in understanding the biology of the human mutagen LINE-1
Abstract
Long interspersed nucleotide element (LINE)-1 retrotransposon (L1) has emerged as the largest contributor to mammalian genome mass, responsible for over 35% of the human genome. Differences in the number and activity levels of L1s contribute to interindividual variation in humans, both by affecting an individual's likelihood of acquiring new L1-mediated mutations, as well as by differentially modifying gene expression. Here, we report on recent progress in understanding L1 biology, with a focus on mechanisms of L1-mediated disease. We discuss known details of L1 life cycle, including L1 structure, transcriptional regulation, and the mechanisms of translation and retrotransposition. Current views on cell type specificity, timing, and control of retrotransposition are put forth. Finally, we discuss the role of L1 as a mutagen, using the latest findings in L1 biology to illuminate molecular mechanisms of L1-mediated gene disruption.
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Citations
Cites
Initial sequencing and comparative analysis of the mouse genome
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Kazazian, H. H. (2004) · Science · doi:10.1126/science.1089670 · Cited by 1,922
Self-citationHuman 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-citationSomatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition
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Human L1 element target‐primed reverse transcription in vitro
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The Human LINE-1 Retrotransposon Creates DNA Double-strand Breaks
Gasior, S. L., Wakeman, T. P., Xu, B., & Deininger, P. L. (2006) · Journal of Molecular Biology · doi:10.1016/j.jmb.2006.01.089 · Cited by 519
Transcriptional disruption by the L1 retrotransposon and implications for mammalian transcriptomes
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Molecular archeology of L1 insertions in the human genome
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“Analyses of endogenous L1s in the human genome [Jurka, 1997; Lander et al., 2001; Szak et al., 2002] further confirmed that L1 integrants carry characteristic features of TPRT integration: L1 sequences generally integrate at 50 TTTT0AA 30 sites, contain an intact 30 end region ending in a polyA,…”
Background
Cited by
Copy number variation in human health, disease, and evolution
Zhang, F., Gu, W., Hurles, M. E., & Lupski, J. R. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164217 · Cited by 1,207
The Wellcome Trust Case Control Consortium (2010) · Nature · doi:10.1038/nature08979 · Cited by 807
LINE-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
Dynamic interactions between transposable elements and their hosts
Levin, H. L., & Moran, J. V. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3030 · Cited by 621
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
Metadata
- Authors
- Babushok, D. V., & Kazazian, H. H.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2007
- Volume
- 28
- Issue
- 6
- Pages
- 527-539
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2023865653
- Cited by
- 208
- References
- 16
- FWCI
- 26.57
- Type
- journal article
- Language
- en
- Open access
- closed
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