LINE-1 Retrotransposition Activity in Human Genomes
Open accessAbstract
Summary Long Interspersed Element-1 (LINE-1 or L1) sequences comprise the bulk of retrotransposition activity in the human genome; however, the abundance of highly active or ‘hot’ L1s in the human population remains largely unexplored. Here, we used a fosmid-based, paired-end DNA sequencing strategy to identify 68 full-length L1s which are differentially present among individuals but are absent from the human genome reference sequence. The majority of these L1s were highly active in a cultured cell retrotransposition assay. Genotyping 26 elements revealed that two L1s are only found in Africa and that two more are absent from the H952 subset of the Human Genome Diversity Panel. Therefore, these results suggest that ‘hot’ L1s are more abundant in the human population than previously appreciated, and that ongoing L1 retrotransposition continues to be a major source of inter-individual genetic variation.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
LINE-1 possesses high reverse transcriptase activity, which can transcribe mRNA to cDNA in the cytosol.
“LINE‐1 possesses high reverse transcriptase activity, which can transcribe mRNA to cDNA in the cytosol.75”
From Cellular senescence and senescence-associated secretory phenotype via the cGAS-STING signaling pathway in cancer (2020) · cites this paper as [75]
The Results section ('Hallmarks and insertion locations of L1s identified in this study'; page unavailable) describes LINE-1 target-primed reverse transcription, and the Abstract reports that many identified LINE-1 elements were highly active in a retrotransposition assay. The copy does not establish that LINE-1 converts mRNA to cDNA in the cytosol, or measure 'high reverse transcriptase activity' as distinct from retrotransposition activity. (LLM, conf=0.84)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Molecular Cloning: A Laboratory Manual
Sambrook, J., Fritsch, E., & Maniatis, T. (1989) · UCLA - Biblioteca de Ciencias de la Salud · Cited by 133,589 · see citing works
Basic local alignment search tool
Altschul, S. F., Gish, W., Miller, W., Myers, E. W., & Lipman, D. J. (1990) · Journal of Molecular Biology · doi:10.1006/jmbi.1990.9999 · Cited by 98,669 · see citing works
Molecular cloning: A laboratory manual
Deininger, P. L. (1990) · Analytical Biochemistry · doi:10.1016/0003-2697(90)90595-z · Cited by 84,684 · see citing works
MUSCLE: multiple sequence alignment with high accuracy and high throughput
Edgar, R. C. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh340 · Cited by 44,662 · see citing works
Kimura, M. (1980) · Journal of Molecular Evolution · doi:10.1007/bf01731581 · Cited by 29,778 · see citing works
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 · see citing works
PHYLIP-Phylogeny inference package (Version 3.2)
Felsenstein, J. (1989) · Cladistics · Cited by 17,848 · see citing works
The sequence of the human genome
Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) · Science · doi:10.1126/science.1058040 · Cited by 13,909 · see citing works
The Human Genome Browser at UCSC
Kent, W. J., Sugnet, C. W., Furey, T. S., Roskin, K. M., Pringle, T. H., Zahler, A. M., & Haussler, A. D. (2002) · Genome Research · doi:10.1101/gr.229102 · Cited by 10,400 · see citing works
Jalview Version 2—a multiple sequence alignment editor and analysis workbench
Waterhouse, A. M., Procter, J. B., Martin, D. M. A., Clamp, M. E., & Barton, G. J. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp033 · Cited by 10,011 · see citing works
<tt>BLAT</tt> —The <tt>BLAST</tt> -Like Alignment Tool
Kent, W. J. (2002) · Genome Research · doi:10.1101/gr.229202 · Cited by 8,480 · see citing works
The Sequence of the Human Genome
Venter, J., Adams, M., Myers, E., Li, P. W., Mural, R., Sutton, G., Smith, H., Yandell, M., Evans, C., Holt, R., et al. (2001) · Science · doi:10.1373/clinchem.2014.237016 · Cited by 6,779 · see citing works
A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858 · see citing works
Accurate whole human genome sequencing using reversible terminator chemistry
Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., Hall, K. P., Evers, D. J., Barnes, C. L., Bignell, H. R., et al. (2008) · Nature · doi:10.1038/nature07517 · Cited by 3,684 · see citing works
Prescribing Personalized Nutrition for Cardiovascular Health: Are We Ready?
Juma, S., Imrhan, V., Vijayagopal, P., & Prasad, C. (2014) · Lifestyle Genomics · doi:10.1159/000370213 · Cited by 1,905 · see citing works
The complete genome of an individual by massively parallel DNA sequencing
Wheeler, D. A., Srinivasan, M., Egholm, M., Shen, Y., Chen, L., McGuire, A., He, W., Chen, Y.-J., Makhijani, V., Roth, G. T., et al. (2008) · Nature · doi:10.1038/nature06884 · Cited by 1,838 · see citing works
The impact of retrotransposons on human genome evolution
Cordaux, R., & Batzer, M. (2009) · Nature reviews genetics · doi:10.1038/nrg2640 · Cited by 1,691 · see citing works
Dendroscope: An interactive viewer for large phylogenetic trees
Huson, D. H., Richter, D. C., Rausch, C. R., Dezulian, T., Franz, M., & Rupp, R. (2007) · BMC Bioinformatics · doi:10.1186/1471-2105-8-460 · Cited by 1,240 · see citing works
Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome
Korbel, J. O., Urban, A. E., Affourtit, J. P., Godwin, B., Grubert, F., Simons, J. F., Kim, P. M., Palejev, D., Carriero, N. J., Du, L., et al. (2007) · Science · doi:10.1126/science.1149504 · Cited by 1,163 · see citing works
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 · see citing works
Self-citationMapping and sequencing of structural variation from eight human genomes
Kidd, J. M., Cooper, G. M., Donahue, W. F., Hayden, H. S., Sampas, N., Graves, T., Hansen, N., Teague, B., Alkan, C., Antonacci, F., et al. (2008) · Nature · doi:10.1038/nature06862 · Cited by 1,119 · see citing works
Self-citationHot 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 · see citing works
Self-citationLINE-mediated retrotransposition of marked Alu sequences
Dewannieux, M., Esnault, C., & Heidmann, T. (2003) · Nature Genetics · doi:10.1038/ng1223 · Cited by 1,026 · see citing works
High frequency retrotransposition in cultured mammalian cells
Moran, J. V., Holmes, S. E., Naas, T. P., DeBerardinis, R. J., Boeke, J. D., & Kazazian, H. H. (1996) · Cell · doi:10.1016/s0092-8674(00)81998-4 · Cited by 1,022 · see citing works
Self-citationA Human Genome Diversity Cell Line Panel
Cann, H. M., de Toma, C., Cazes, L., Legrand, M.-F., Morel, V., Piouffre, L., Bodmer, J. G., Bodmer, W. F., Bonné, B., Cambon‐Thomsen, A., et al. (2002) · Science · doi:10.1126/science.296.5566.261b · Cited by 997 · see citing works
Self-citationFine-scale structural variation of the human genome
Tüzün, E., Sharp, A. J., Bailey, J. A., Kaul, R., Morrison, V., Pertz, L. M., Haugen, E., Hayden, H. S., Albertson, D. G., Pinkel, D., et al. (2005) · Nature Genetics · doi:10.1038/ng1562 · Cited by 991 · see citing works
Self-citationKazazian, H. H., Wong, C., Youssoufian, H., Scott, A. F., Phillips, D. G., & Antonarakis, S. E. (1988) · Nature · doi:10.1038/332164a0 · Cited by 929 · see citing works
The diploid genome sequence of an Asian individual
Wang, J., Wang, W., Li, R., Li, Y., Tian, G., Goodman, L., Fan, W., Zhang, J., Li, J., Zhang, J., et al. (2008) · Nature · doi:10.1038/nature07484 · Cited by 924 · see citing works
Exon Shuffling by L1 Retrotransposition
Moran, J. V., DeBerardinis, R. J., & Kazazian, H. H. (1999) · Science · doi:10.1126/science.283.5407.1530 · Cited by 629 · see citing works
Self-citationNatural mutagenesis of human genomes by endogenous retrotransposons
Iskow, R. C., McCabe, M. T., Mills, R. E., Torene, S., Pittard, W. S., Neuwald, A. F., Van Meir, E. G., Vertino, P. M., & Devine, S. E. (2010) · Cell · doi:10.1016/j.cell.2010.05.020 · Cited by 551 · see citing works
McKernan, K. J., Peckham, H. E., Costa, G. L., McLaughlin, S. F., Fu, Y., Tsung, E. F., Clouser, C. R., Duncan, C., Ichikawa, J. K., Lee, C. C., et al. (2009) · Genome Research · doi:10.1101/gr.091868.109 · Cited by 529 · see citing works
Self-citationDNA repair mediated by endonuclease-independent LINE-1 retrotransposition
Morrish, T. A., Gilbert, N., Myers, J. S., Vincent, B. J., Stamato, T. D., Taccioli, G. E., Batzer, M. A., & Moran, J. V. (2002) · Nature Genetics · doi:10.1038/ng898 · Cited by 488 · see citing works
Self-citationHuman L1 Retrotransposition Is Associated with Genetic Instability In Vivo
Symer, D. E., Connelly, C. J., Szak, S. T., Caputo, E. M., Cost, G. J., Parmigiani, G., & Boeke, J. D. (2002) · Cell · doi:10.1016/s0092-8674(02)00839-5 · Cited by 479 · see citing works
Genomic Deletions Created upon LINE-1 Retrotransposition
Gilbert, N., Lutz-Prigge, S., & Moran, J. V. (2002) · Cell · doi:10.1016/s0092-8674(02)00828-0 · Cited by 474 · see citing works
Self-citationMany human L1 elements are capable of retrotransposition
Sassaman, D. M., Dombroski, B. A., Moran, J. V., Kimberland, M. L., Naas, T., DeBerardinis, R. J., Gabriel, A., Swergold, G. D., & Kazazian, H. H. (1997) · Nature Genetics · doi:10.1038/ng0597-37 · Cited by 452 · see citing works
Self-citationAncestral, Mammalian-wide Subfamilies of LINE-1 Repetitive Sequences
Smit, A. F. A., Tóth, G. J., Riggs, A. D., & Jurka, J. (1995) · Journal of Molecular Biology · doi:10.1006/jmbi.1994.0095 · Cited by 384 · see citing works
Master genes in mammalian repetitive DNA amplification
Deininger, P. L., Batzer, M. A., Hutchison, C. A., & Edgell, M. H. (1992) · Trends in Genetics · doi:10.1016/0168-9525(92)90262-3 · Cited by 316 · see citing works
Mobile elements create structural variation: Analysis of a complete human genomePreprint
Xing, J., Zhang, Y., Han, K., Salem, A. H., Sen, S. K., Huff, C., Zhou, Q., Kirkness, E. F., Levy, S., Batzer, M. A., et al. (2009) · Genome Research · doi:10.1101/gr.091827.109 · Cited by 313 · see citing works
L1 (LINE-1) Retrotransposon Evolution and Amplification in Recent Human History
Boissinot, S., Chevret, P., & Furano, A. V. (2000) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a026372 · Cited by 312 · see citing works
Unit-length line-1 transcripts in human teratocarcinoma cells.
Skowroński, J., Fanning, T. G., & Singer, M. (1988) · Molecular and Cellular Biology · doi:10.1128/mcb.8.4.1385 · Cited by 295 · see citing works
Multiple Fates of L1 Retrotransposition Intermediates in Cultured Human Cells
Gilbert, N., Lutz, S., Morrish, T. A., & Moran, J. V. (2005) · Molecular and Cellular Biology · doi:10.1128/mcb.25.17.7780-7795.2005 · Cited by 283 · see citing works
Self-citationFrequent Human Genomic DNA Transduction Driven by LINE-1 RetrotranspositionPreprint
Pickeral, O. K., Makałowski, W., Boguski, M. S., & Boeke, J. D. (2000) · Genome Research · doi:10.1101/gr.10.4.411 · Cited by 279 · see citing works
Active Alu retrotransposons in the human genomePreprint
Bennett, E. A., Keller, H., Mills, R. E., Schmidt, S., Moran, J. V., Weichenrieder, O., & Devine, S. E. (2008) · Genome Research · doi:10.1101/gr.081737.108 · Cited by 274 · see citing works
Self-citationTransduction of 3'-flanking sequences is common in L1 retrotransposition
Goodier, J. L. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.4.653 · Cited by 266 · see citing works
Rosenberg, N. A. (2006) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2006.00285.x · Cited by 261 · see citing works
Mobile Interspersed Repeats Are Major Structural Variants in the Human Genome
Huang, C. R. L., Schneider, A. M., Lu, Y., Niranjan, T. S., Shen, P., Robinson, M. A., Steranka, J. P., Valle, D. L., Civin, C. I., Wang, T., et al. (2010) · Cell · doi:10.1016/j.cell.2010.05.026 · Cited by 251 · see citing works
Cost, G. J., & Boeke, J. D. (1998) · Biochemistry · doi:10.1021/bi981858s · Cited by 242 · see citing works
Holmes, S. E., Dombroski, B. A., Krebs, C. M., Boehm, C. D., & Kazazian, H. H. (1994) · Nature Genetics · doi:10.1038/ng0694-143 · Cited by 231 · see citing works
Progress in understanding the biology of the human mutagen LINE-1
Babushok, D. V., & Kazazian, H. H. (2007) · Human Mutation · doi:10.1002/humu.20486 · Cited by 209 · see citing works
A YY1-binding site is required for accurate human LINE-1 transcription initiation
Athanikar, J. N. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh698 · Cited by 200 · see citing works
dbRIP: A highly integrated database of retrotransposon insertion polymorphisms in humans
Wang, J., Song, L., Grover, D., Azrak, S., Batzer, M. A., & Liang, P. (2006) · Human Mutation · doi:10.1002/humu.20307 · Cited by 198 · see citing works
Unconventional translation of mammalian LINE-1 retrotransposonsPreprint
Alisch, R. S., Garcia-Perez, J. L., Muotri, A. R., Gage, F. H., & Moran, J. V. (2006) · Genes & Development · doi:10.1101/gad.1380406 · Cited by 190 · see citing works
Self-citationRibonucleoprotein particle formation is necessary but not sufficient for LINE-1 retrotransposition
Kulpa, D. A., & Moran, J. V. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi354 · Cited by 181 · see citing works
Self-citationEndonuclease-independent LINE-1 retrotransposition at mammalian telomeres
Morrish, T. A., Garcia-Perez, J. L., Stamato, T. D., Taccioli, G. E., Sekiguchi, J., & Moran, J. V. (2007) · Nature · doi:10.1038/nature05560 · Cited by 178 · see citing works
Self-citationKimberland, M. L., Divoký, V., Prchal, J. T., Schwahn, U., Berger, W., & Kazazian, H. H. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.8.1557 · Cited by 173 · see citing works
Carroll, M. L., Roy‐Engel, A. M., Nguyen, S. V., Salem, A. H., Vogel, E., Vincent, B. J., Myers, J. S., Ahmad, Z., Nguyen, L., Sammarco, M. C., et al. (2001) · Journal of Molecular Biology · doi:10.1006/jmbi.2001.4847 · Cited by 168 · see citing works
Natural Genetic Variation Caused by Transposable Elements in Humans
Bennett, E. A., Coleman, L. E., Tsui, C. W., Pittard, W. S., & Devine, S. E. (2004) · Genetics · doi:10.1534/genetics.104.031757 · Cited by 164 · see citing works
A Comprehensive Analysis of Recently Integrated Human Ta L1 Elements
Myers, J. S., Vincent, B. J., Udall, H., Watkins, W. S., Morrish, T. A., Kilroy, G. E., Swergold, G. D., Henke, J., Henke, L., Moran, J. V., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/341718 · Cited by 158 · see citing works
Self-citationReading between the LINEs: Human Genomic Variation Induced by LINE-1 RetrotranspositionPreprint
Sheen, F.-M., Sherry, S. T., Risch, G., Robichaux, M. B., Nasidze, I. S., Stoneking, M., Batzer, M. A., & Swergold, G. D. (2000) · Genome Research · doi:10.1101/gr.149400 · Cited by 141 · see citing works
Adaptive Evolution in LINE-1 Retrotransposons
Boissinot, S., & Furano, A. V. (2001) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a003765 · Cited by 123 · see citing works
Evidence consistent with human L1 retrotransposition in maternal meiosis I
Brouha, B., Meischl, C., Ostertag, E., de Boer, M., Zhang, Y., Neijens, H., Roos, D., & Kazazian, H. H. (2002) · The American Journal of Human Genetics · doi:10.1086/341722 · Cited by 122 · see citing works
Garcia-Perez, J. L., Doucet, A. J., Bucheton, A., Moran, J. V., & Gilbert, N. (2007) · Genome Research · doi:10.1101/gr.5870107 · Cited by 121 · see citing works
Self-citationGenomic Characterization of Recent Human LINE-1 Insertions: Evidence Supporting Random InsertionPreprint
Ovchinnikov, I. V., Troxel, A. B., & Swergold, G. D. (2001) · Genome Research · doi:10.1101/gr.194701 · Cited by 120 · see citing works
Dombroski, B. A., Scott, A. F., & Kazazian, H. H. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.14.6513 · Cited by 119 · see citing works
Retrotransposition of Alu elements: how many sources?
Cordaux, R., Hedges, D. J., & Batzer, M. A. (2004) · Trends in Genetics · doi:10.1016/j.tig.2004.07.012 · Cited by 116 · see citing works
The Insertional History of an Active Family of L1 Retrotransposons in HumansPreprint
Boissinot, S., Entezam, A., Young, L., Munson, P. J., & Furano, A. V. (2004) · Genome Research · doi:10.1101/gr.2326704 · Cited by 111 · see citing works
L1Base: from functional annotation to prediction of active LINE-1 elements
Penzkofer, T. (2004) · Nucleic Acids Research · doi:10.1093/nar/gki044 · Cited by 108 · see citing works
Wei, W., Morrish, T. A., Alisch, R. S., & Moran, J. V. (2000) · Analytical Biochemistry · doi:10.1006/abio.2000.4675 · Cited by 105 · see citing works
Self-citationATLAS: A System to Selectively Identify Human-Specific L1 Insertions
Badge, R. M., Alisch, R. S., & Moran, J. V. (2003) · The American Journal of Human Genetics · doi:10.1086/373939 · Cited by 105 · see citing works
Self-citationSeleme, M. D. C., Vetter, M. R., Cordaux, R., Bastone, L. A., Batzer, M. A., & Kazazian, H. H. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0601324103 · Cited by 104 · see citing works
Lavie, L., Maldener, E., Brouha, B., Meese, E., & Mayer, J. (2004) · Genome Research · doi:10.1101/gr.2745804 · Cited by 104 · see citing works
Frikke-Schmidt, R. (2010) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2009.06.005 · Cited by 94 · see citing works
Crystal Structure of the Targeting Endonuclease of the Human LINE-1 Retrotransposon
Weichenrieder, O., Repanas, K., & Anastassis Perrakis, A. (2004) · Structure · doi:10.1016/j.str.2004.04.011 · Cited by 83 · see citing works
Under the genomic radar: The Stealth model of Alu amplificationPreprint
Han, K., Xing, J., Wang, H., Hedges, D. J., Garber, R. K., Cordaux, R., & Batzer, M. A. (2005) · Genome Research · doi:10.1101/gr.3492605 · Cited by 82 · see citing works
A modified indicator gene for selection of retrotransposition events in mammalian cells.
Freeman, J., Goodchild, N. L., & Mager, D. L. (1994) · PubMed · Cited by 67 · see citing works
Grimaldi, G., & Singer, M. (1983) · Nucleic Acids Research · doi:10.1093/nar/11.2.321 · Cited by 66 · see citing works
Allelic Heterogeneity in LINE-1 Retrotransposition Activity
Lutz, S., Vincent, B. J., Kazazian, H. H., Batzer, M. A., & Moran, J. V. (2003) · The American Journal of Human Genetics · doi:10.1086/379744 · Cited by 63 · see citing works
Self-citationThe Unusual Phylogenetic Distribution of Retrotransposons: A HypothesisPreprint
Boeke, J. D. (2003) · Genome Research · doi:10.1101/gr.1392003 · Cited by 60 · see citing works
Phylemon: a suite of web tools for molecular evolution, phylogenetics and phylogenomics
Tárraga, J., Medina, I., Arbiza, L., Huerta‐Cepas, J., Gabaldón, T., Dopazo, J., & Dopazo, H. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm224 · Cited by 49 · see citing works
Estimating the age of retrotransposon subfamilies using maximum likelihood
Blue, E., Xing, J., Witherspoon, D. J., Jorde, L. B., & Rogers, A. R. (2009) · Genomics · doi:10.1016/j.ygeno.2009.04.002 · Cited by 13 · see citing works
Fosmid Libraries for Genomic Structural Variation Detection
Donahue, W. F., & Ebling, H. M. (2007) · Current Protocols in Human Genetics · doi:10.1002/0471142905.hg0520s54 · Cited by 9 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Ten things you should know about transposable elements
Bourque, G., Burns, K. H., Gehring, M., Gorbunova, V., Seluanov, A., Hammell, M., Imbeault, M., Izsvák, Z., Levin, H. L., Macfarlan, T. S., et al. (2018) · Genome Biology · doi:10.1186/s13059-018-1577-z · Cited by 1,430 · see citing works
Advances in understanding cancer genomes through second-generation sequencing
Meyerson, M. M., Gabriel, S., & Getz, G. A. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2841 · Cited by 1,114 · see citing works
Landscape of Somatic Retrotransposition in Human Cancers
Lee, E., Iskow, R., Yang, L., Gokcumen, O., Haseley, P., Luquette, L. J., Lohr, J. G., Harris, C. C., Ding, L., Wilson, R. K., et al. (2012) · Science · doi:10.1126/science.1222077 · Cited by 762 · see citing works
Jin, Y., Tam, O. H., Paniagua, E., & Hammell, M. (2015) · Bioinformatics · doi:10.1093/bioinformatics/btv422 · Cited by 709 · see citing works
Roles for retrotransposon insertions in human disease
Hancks, D. C., & Kazazian, H. H. (2016) · Mobile DNA · doi:10.1186/s13100-016-0065-9 · Cited by 670 · see citing works
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
Ebert, P., Audano, P. A., Zhu, Q., Rodriguez-Martin, B., Porubsky, D., Bonder, M. J., Sulovari, A., Ebler, J., Zhou, W., Serra Mari, R., et al. (2021) · Science · doi:10.1126/science.abf7117 · Cited by 702 · see citing works
Self-citationSomatic retrotransposition alters the genetic landscape of the human brain
Baillie, J. K., Barnett, M. W., Upton, K. R., Gerhardt, D. J., Richmond, T. A., De Sapio, F., Brennan, P. M., Rizzu, P., Smith, S., Fell, M., et al. (2011) · Nature · doi:10.1038/nature10531 · Cited by 684 · see citing works
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 · see citing works
Self-citationDynamic interactions between transposable elements and their hosts
Levin, H. L., & Moran, J. V. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3030 · Cited by 621 · see citing works
Self-citationComplete genomic and epigenetic maps of human centromeres
Altemose, N., Logsdon, G. A., Bzikadze, A. V., Sidhwani, P., Langley, S. A., Caldas, G. V., Hoyt, S. J., Uralsky, L., Ryabov, F. D., Shew, C. J., et al. (2022) · Science · doi:10.1126/science.abl4178 · Cited by 618 · see citing works
Self-citationCharacterizing the Major Structural Variant Alleles of the Human Genome
Audano, P. A., Sulovari, A., Graves-Lindsay, T. A., Cantsilieris, S., Sorensen, M., Welch, A. E., Dougherty, M. L., Nelson, B. J., Shah, A., Dutcher, S. K., et al. (2019) · Cell · doi:10.1016/j.cell.2018.12.019 · Cited by 492 · see citing works
Self-citationNatural mutagenesis of human genomes by endogenous retrotransposons
Iskow, R. C., McCabe, M. T., Mills, R. E., Torene, S., Pittard, W. S., Neuwald, A. F., Van Meir, E. G., Vertino, P. M., & Devine, S. E. (2010) · Cell · doi:10.1016/j.cell.2010.05.020 · Cited by 551 · see citing works
Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain
Evrony, G. D., Cai, X., Lee, E., Hills, L. B., Elhosary, P. C., Lehmann, H. S., Parker, J. J., Atabay, K. D., Gilmore, E. C., Poduri, A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.09.035 · Cited by 548 · see citing works
Active human retrotransposons: variation and disease
Hancks, D. C., & Kazazian, H. H. (2012) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2012.02.006 · Cited by 592 · see citing works
Transposable elements in cancer
Burns, K. H. (2017) · Nature Reviews Cancer · doi:10.1038/nrc.2017.35 · Cited by 572 · see citing works
Rodriguez-Martin, B., Alvarez, E. G., Baez-Ortega, A., Zamora, J., Supek, F., Demeulemeester, J., Santamarina, M., Ju, Y. S., Temes, J., Garcia-Souto, D., et al. (2020) · Nature Genetics · doi:10.1038/s41588-019-0562-0 · Cited by 451 · see citing works
Aberrant Overexpression of Satellite Repeats in Pancreatic and Other Epithelial Cancers
Ting, D. T., Lipson, D., Paul, S., Brannigan, B. W., Akhavanfard, S., Coffman, E. J., Contino, G., Deshpande, V., Iafrate, A. J., Letovsky, S., et al. (2011) · Science · doi:10.1126/science.1200801 · Cited by 540 · see citing works
Restricting retrotransposons: a review
Goodier, J. L. (2016) · Mobile DNA · doi:10.1186/s13100-016-0070-z · Cited by 436 · see citing works
Human Genome Sequencing in Health and Disease
Gonzaga-Jauregui, C. G., Lupski, J. R., & Gibbs, R. A. (2011) · Annual Review of Medicine · doi:10.1146/annurev-med-051010-162644 · Cited by 472 · see citing works
Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes
Tubio, J. M. C., Li, Y., Ju, Y. S., Martincorena, I., Cooke, S. L., Tojo, M., Gundem, G., Pipinikas, C. P., Zamora, J., Raine, K., et al. (2014) · Science · doi:10.1126/science.1251343 · Cited by 412 · see citing works
Active Transposition in Genomes
Huang, C. R. L., Burns, K. H., & Boeke, J. D. (2012) · Annual Review of Genetics · doi:10.1146/annurev-genet-110711-155616 · Cited by 412 · see citing works
Type I interferonopathies: a novel set of inborn errors of immunity
Crow, Y. J. (2011) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2011.06220.x · Cited by 395 · see citing works
Transposable elements become active and mobile in the genomes of aging mammalian somatic tissues
De Cecco, M., Criscione, S. W., Peterson, A. L., Neretti, N., Sedivy, J. M., & Kreiling, J. A. (2013) · Aging · doi:10.18632/aging.100621 · Cited by 365 · see citing works
Endogenous Retrotransposition Activates Oncogenic Pathways in Hepatocellular Carcinoma
Shukla, R., Upton, K. R., Muñoz-López, M., Gerhardt, D. J., Fisher, M. E., Nguyen, T., Brennan, P. M., Baillie, J. K., Collino, A., Ghisletti, S., et al. (2013) · Cell · doi:10.1016/j.cell.2013.02.032 · Cited by 391 · see citing works
Measuring and interpreting transposable element expression
Lanciano, S., & Cristofari, G. (2020) · Nature Reviews Genetics · doi:10.1038/s41576-020-0251-y · Cited by 390 · see citing works
The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biologyPreprint
Gardner, E. J., Lam, V. K. L., Harris, D., Chuang, N. T., Scott, E., Pittard, W. S., Mills, R. E., & Devine, S. E. (2017) · Genome Research · doi:10.1101/gr.218032.116 · Cited by 371 · see citing works
Small insertions and deletions (INDELs) in human genomes
Mullaney, J. M., Mills, R. E., Pittard, W. S., & Devine, S. E. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq400 · Cited by 353 · see citing works
Transposable elements in human genetic disease
Payer, L. M., & Burns, K. H. (2019) · Nature Reviews Genetics · doi:10.1038/s41576-019-0165-8 · Cited by 344 · see citing works
Ubiquitous L1 Mosaicism in Hippocampal Neurons
Upton, K. R., Gerhardt, D. J., Jesuadian, J. S., Richardson, S. R., Sánchez-Luque, F. J., Bodea, G. O., Ewing, A. D., Salvador-Palomeque, C., van der Knaap, M. S., Brennan, P. M., et al. (2015) · Cell · doi:10.1016/j.cell.2015.03.026 · Cited by 320 · see citing works
Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†
Kloosterman, W. P., Guryev, V., van Roosmalen, M. J., Duran, K. J., de Bruijn, E., Bakker, S. C. M., Letteboer, T. G. W., van Nesselrooij, B. P. M., Hochstenbach, R., Poot, M., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr073 · Cited by 320 · see citing works
The Influence of LINE-1 and SINE Retrotransposons on Mammalian Genomes
Richardson, S. R., Doucet, A. J., Kopera, H. C., Moldovan, J. B., Garcia-Perez, J. L., & Moran, J. V. (2015) · Microbiology Spectrum · doi:10.1128/microbiolspec.mdna3-0061-2014 · Cited by 313 · see citing works
Self-citationA comprehensive map of mobile element insertion polymorphisms in humans
Stewart, C., Kural, D., Strömberg, M. P., Walker, J. A., Konkel, M. K., Stütz, A. M., Urban, A. E., Grubert, F., Lam, H. Y. K., Lee, W.-P., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002236 · Cited by 307 · see citing works
A Human Genome Structural Variation Sequencing Resource Reveals Insights into Mutational Mechanisms
Kidd, J. M., Graves, T., Newman, T. L., Fulton, R. S., Hayden, H. S., Malig, M., Kallicki, J., Kaul, R., Wilson, R. K., & Eichler, E. E. (2010) · Cell · doi:10.1016/j.cell.2010.10.027 · Cited by 304 · see citing works
Self-citationA hot L1 retrotransposon evades somatic repression and initiates human colorectal cancerPreprint
Scott, E., Gardner, E. J., Masood, A., Chuang, N. T., Vertino, P. M., & Devine, S. E. (2016) · Genome Research · doi:10.1101/gr.201814.115 · Cited by 298 · see citing works
Burns, K. H., & Boeke, J. D. (2012) · Cell · doi:10.1016/j.cell.2012.04.019 · Cited by 295 · see citing works
Integration site selection by retroviruses and transposable elements in eukaryotes
Sultana, T., Zamborlini, A., Cristofari, G., & Lesage, P. (2017) · Nature Reviews Genetics · doi:10.1038/nrg.2017.7 · Cited by 275 · see citing works
Dynamic control of endogenous retroviruses during development
Rowe, H. M., & Trono, D. (2011) · Virology · doi:10.1016/j.virol.2010.12.007 · Cited by 278 · see citing works
Extensive somatic L1 retrotransposition in colorectal tumorsPreprint
Sólyom, S., Ewing, A. D., Rahrmann, E. P., Doucet-O’Hare, T. T., Nelson, H. H., Burns, M. B., Harris, R. S., Sigmon, D. F., Casella, A. M., Avigdor, B. E., et al. (2012) · Genome Research · doi:10.1101/gr.145235.112 · Cited by 273 · see citing works
Mobile DNA elements in the generation of diversity and complexity in the brain
Erwin, J. A., Marchetto, M. C., & Gage, F. H. (2014) · Nature reviews. Neuroscience · doi:10.1038/nrn3730 · Cited by 264 · see citing works
The enemy within: endogenous retroelements and autoimmune disease
Volkman, H. E., & Stetson, D. B. (2014) · Nature Immunology · doi:10.1038/ni.2872 · Cited by 333 · see citing works
Somatic retrotransposition in human cancer revealed by whole-genome and exome sequencing
Helman, E., Lawrence, M. S., Stewart, C., Sougnez, C., Getz, G., & Meyerson, M. (2014) · Genome Research · doi:10.1101/gr.163659.113 · Cited by 240 · see citing works
The HP1 Homolog Rhino Anchors a Nuclear Complex that Suppresses piRNA Precursor Splicing
Zhang, Z., Wang, J., Schultz, N., Zhang, F., Parhad, S. S., Tu, S., Vreven, T., Zamore, P. D., Weng, Z., & Theurkauf, W. E. (2014) · Cell · doi:10.1016/j.cell.2014.04.030 · Cited by 251 · see citing works
Mobile Interspersed Repeats Are Major Structural Variants in the Human Genome
Huang, C. R. L., Schneider, A. M., Lu, Y., Niranjan, T. S., Shen, P., Robinson, M. A., Steranka, J. P., Valle, D. L., Civin, C. I., Wang, T., et al. (2010) · Cell · doi:10.1016/j.cell.2010.05.026 · Cited by 251 · see citing works
Xie, M., Hong, C., Zhang, B., Lowdon, R. F., Xing, X., Li, D., Zhou, X., Lee, H. J., Maire, C. L., Ligon, K. L., et al. (2013) · Nature Genetics · doi:10.1038/ng.2649 · Cited by 247 · see citing works
Differential L1 regulation in pluripotent stem cells of humans and apes
Marchetto, M. C., Narvaiza, I., Denli, A. M., Benner, C. W., Lazzarini, T. A., Nathanson, J. L., Paquola, A. C. M., Desai, K. N., Herai, R. H., Weitzman, M. D., et al. (2013) · Nature · doi:10.1038/nature12686 · Cited by 238 · see citing works
Loo, T. M., Miyata, K., Tanaka, Y., & Takahashi, A. (2020) · Cancer Science · doi:10.1111/cas.14266 · Cited by 232 · see citing works
Coufal, N. G., Garcia-Perez, J. L., Peng, G. E., Marchetto, M. C. N., Muotri, A. R., Mu, Y., Carson, C. T., Macia, A., Moran, J. V., & Gage, F. H. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1100273108 · Cited by 229 · see citing works
Self-citationLoss of Nuclear TDP-43 Is Associated with Decondensation of LINE Retrotransposons
Liu, E. Y., Russ, J., Cali, C. P., Phan, J. M., Amlie-Wolf, A., & Lee, E. B. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.04.003 · Cited by 231 · see citing works
“LINEs are retrotransposable elements that can be active in both the germline and in somatic cells (Beck et al., 2010; Coufal et al., 2009; Erwin et al., 2014; Evrony et al., 2012).”
BackgroundA role for retrotransposon LINE-1 in fetal oocyte attrition in mice
Malki, S., van der Heijden, G. W., O’Donnell, K. A., Martin, S. L., & Bortvin, A. (2014) · Developmental Cell · doi:10.1016/j.devcel.2014.04.027 · Cited by 215 · see citing works
Characterizing Extracellular Vesicles and Their Diverse RNA Contents
Veziroglu, E. M., & Mias, G. I. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.00700 · Cited by 222 · see citing works
The impact of transposable elements on mammalian development
Garcia-Perez, J. L., Widmann, T. J., & Adams, I. R. (2016) · Development · doi:10.1242/dev.132639 · Cited by 202 · see citing works
Transposable Elements Re-Wire and Fine-Tune the Transcriptome
Cowley, M., & Oakey, R. J. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003234 · Cited by 199 · see citing works
p53 genes function to restrain mobile elementsPreprint
Wylie, A., Jones, A. E., D’Brot, A., Lu, W.-J., Kurtz, P., Moran, J. V., Rakheja, D., Chen, K. S.-M., Hammer, R. E., Comerford, S. A., et al. (2015) · Genes & Development · doi:10.1101/gad.266098.115 · Cited by 198 · see citing works
Self-citationTransposable Elements in Human Cancer: Causes and Consequences of Deregulation
Anwar, S. L., Wulaningsih, W., & Lehmann, U. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18050974 · Cited by 194 · see citing works
Nanopore Sequencing Enables Comprehensive Transposable Element Epigenomic Profiling
Ewing, A. D., Smits, N., Sanchez-Luque, F. J., Faivre, J., Brennan, P. M., Richardson, S. R., Cheetham, S. W., & Faulkner, G. J. (2020) · Molecular Cell · doi:10.1016/j.molcel.2020.10.024 · Cited by 194 · see citing works
Retrotransposition of marked SVA elements by human L1s in cultured cells
Hancks, D. C., Goodier, J. L., Mandal, P. K., Cheung, L. E., & Kazazian, H. H. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr245 · Cited by 191 · see citing works
Wang, Y., Liu, H., & Sun, Z. S. (2017) · Biological reviews/Biological reviews of the Cambridge Philosophical Society · doi:10.1111/brv.12322 · Cited by 192 · see citing works
SQuIRE reveals locus-specific regulation of interspersed repeat expression
Yang, W. R., Ardeljan, D., Pacyna, C. N., Payer, L. M., & Burns, K. H. (2019) · Nucleic Acids Research · doi:10.1093/nar/gky1301 · Cited by 189 · see citing works
All y’all need to know ‘bout retroelements in cancer
Belancio, V. P., Roy‐Engel, A. M., & Deininger, P. L. (2010) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2010.06.001 · Cited by 189 · see citing works
LINE-1 Evasion of Epigenetic Repression in Humans
Sanchez-Luque, F. J., Kempen, M.-J. H. C., Gerdes, P., Vargas-Landin, D. B., Richardson, S. R., Troskie, R.-L., Jesuadian, J. S., Cheetham, S. W., Carreira, P. E., Salvador-Palomeque, C., et al. (2019) · Molecular Cell · doi:10.1016/j.molcel.2019.05.024 · Cited by 161 · see citing works
Philippe, C., Vargas-Landín, D. B., Doucet, A. J., van Essen, D., Vera‐Otarola, J., Kuciak, M., Corbin, A., Nigumann, P., & Cristofari, G. (2016) · eLife · doi:10.7554/elife.13926 · Cited by 179 · see citing works
Repetitive DNA sequence detection and its role in the human genome
Liao, X., Zhu, W., Zhou, J., Li, H., Xu, X., Zhang, B., & Gao, X. (2023) · Communications Biology · doi:10.1038/s42003-023-05322-y · Cited by 180 · see citing works
L1 Retrotransposons and Somatic Mosaicism in the Brain
Richardson, S. R., Morell, S., & Faulkner, G. J. (2014) · Annual Review of Genetics · doi:10.1146/annurev-genet-120213-092412 · Cited by 178 · see citing works
The Role of Transposable Elements in Health and Diseases of the Central Nervous System
Reilly, M. T., Faulkner, G. J., Dubnau, J., Ponomarev, I., & Gage, F. H. (2013) · The Journal of Neuroscience · doi:10.1523/jneurosci.3369-13.2013 · Cited by 175 · see citing works
Mapping the LINE1 ORF1 protein interactome reveals associated inhibitors of human retrotransposition
Goodier, J., Cheung, L. E., & Kazazian, H. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt512 · Cited by 161 · see citing works
Heteromeric RNP Assembly at LINEs Controls Lineage-Specific RNA Processing
Attig, J., Agostini, F., Gooding, C., Chakrabarti, A. M., Singh, A., Haberman, N., Zagalak, J. A., Emmett, W., Smith, C. W. J., Luscombe, N. M., et al. (2018) · Cell · doi:10.1016/j.cell.2018.07.001 · Cited by 166 · see citing works
A 3′ Poly(A) Tract Is Required for LINE-1 Retrotransposition
Doucet, A. J., Wilusz, J. E., Miyoshi, T., Liu, Y., & Moran, J. V. (2015) · Molecular Cell · doi:10.1016/j.molcel.2015.10.012 · Cited by 161 · see citing works
Self-citationL1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes
Penzkofer, T., Jäger, M., Figlerowicz, M., Badge, R. M., Mundlos, S., Robinson, P. N., & Żemojtel, T. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw925 · Cited by 158 · see citing works
Self-citationSultana, T., van Essen, D., Siol, O., Bailly-Bechet, M., Philippe, C., Zine El Aabidine, A., Pioger, L., Nigumann, P., Saccani, S., Andrau, J.-C., et al. (2019) · Molecular Cell · doi:10.1016/j.molcel.2019.02.036 · Cited by 154 · see citing works
Trimeric structure and flexibility of the L1ORF1 protein in human L1 retrotransposition
Khazina, E., Truffault, V., Büttner, R., Schmidt, S., Coles, M. P., & Weichenrieder, O. (2011) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.2097 · Cited by 151 · see citing works
Engineered LINE-1 retrotransposition in nondividing human neuronsPreprint
Macia, Á., Widmann, T. J., Heras, S. R., Ayllón, V., Sánchez, L., Benkaddour-Boumzaouad, M., Muñoz-López, M., Rubio-Roldán, A., Amador‐Cubero, S., Blanco-Jimenez, E., et al. (2016) · Genome Research · doi:10.1101/gr.206805.116 · Cited by 154 · see citing works
The Human Long Interspersed Element-1 Retrotransposon: An Emerging Biomarker of Neoplasia
Ardeljan, D., Taylor, M. S., Ting, D. T., & Burns, K. H. (2017) · Clinical Chemistry · doi:10.1373/clinchem.2016.257444 · Cited by 152 · see citing works
Retrotransposition is associated with genome instability during chronological aging
Maxwell, P. H., Burhans, W. C., & Curcio, M. J. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1100271108 · Cited by 132 · see citing works
Retrotransposon insertions in the clonal evolution of pancreatic ductal adenocarcinoma
Rodić, N., Steranka, J. P., Makohon-Moore, A. P., Moyer, A. F., Shen, P., Sharma, R., Kohutek, Z. A., Huang, C. R. L., Ahn, D. H., Mita, P., et al. (2015) · Nature Medicine · doi:10.1038/nm.3919 · Cited by 146 · see citing works
Our Conflict with Transposable Elements and Its Implications for Human Disease
Burns, K. H. (2020) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathmechdis-012419-032633 · Cited by 137 · see citing works
Reprogramming somatic cells into iPS cells activates LINE-1 retroelement mobility
Wissing, S., Muñoz-López, M., Macia, Á., Yang, Z., Montaño, M., Collins, W., Garcia-Perez, J. L., Moran, J. V., & Greene, W. C. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr455 · Cited by 145 · see citing works
Self-citationTriggers for genomic rearrangements: insights into genomic, cellular and environmental influences
Mani, R. S., & Chinnaiyan, A. M. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2883 · Cited by 142 · see citing works
Long interspersed nuclear element-1 hypomethylation in cancer: biology and clinical applications
Kitkumthorn, N., & Mutirangura, A. (2011) · Clinical Epigenetics · doi:10.1007/s13148-011-0032-8 · Cited by 142 · see citing works
Genome-wide de novo L1 Retrotransposition Connects Endonuclease Activity with Replication
Flasch, D. A., Macia, Á., Sánchez, L., Ljungman, M., Heras, S. R., García-Pérez, J. L., Wilson, T. E., & Moran, J. V. (2019) · Cell · doi:10.1016/j.cell.2019.02.050 · Cited by 127 · see citing works
Self-citationRetroelements in human disease
Kaer, K., & Speek, M. (2013) · Gene · doi:10.1016/j.gene.2013.01.008 · Cited by 140 · see citing works
The Zinc-Finger Antiviral Protein ZAP Inhibits LINE and Alu Retrotransposition
Moldovan, J. B., & Moran, J. V. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005121 · Cited by 140 · see citing works
Self-citationWhole-genome resequencing allows detection of many rare LINE-1 insertion alleles in humans.Preprint
Ewing, A., & Kazazian, H. (2011) · Genome Research · doi:10.1101/gr.114777.110 · Cited by 149 · see citing works
Cooper, D. N., Bacolla, A., Férec, C., Vásquez, K. M., Kehrer‐Sawatzki, H., & Chen, J. (2011) · Human Mutation · doi:10.1002/humu.21557 · Cited by 133 · see citing works
Transposable elements generate regulatory novelty in a tissue-specific fashion
Trizzino, M., Kapusta, A., & Brown, C. D. (2018) · BMC Genomics · doi:10.1186/s12864-018-4850-3 · Cited by 134 · see citing works
Epigenetic Control of Retrotransposon Expression in Human Embryonic Stem Cells
Macia, Á., Muñoz-López, M., Cortés, J. L., Hastings, R. K., Morell, S., Lucena-Aguilar, G., Marchal, J. A., Badge, R. M., & Garcia-Perez, J. L. (2010) · Molecular and Cellular Biology · doi:10.1128/mcb.00561-10 · Cited by 132 · see citing works
Self-citationThe Broad-Spectrum Antiviral Protein ZAP Restricts Human Retrotransposition
Goodier, J. L., Pereira, G., Cheung, L. E., Rose, R. J., & Kazazian, H. H. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005252 · Cited by 131 · see citing works
Widespread somatic L1 retrotransposition occurs early during gastrointestinal cancer evolutionPreprint
Ewing, A. D., Gacita, A. M., Wood, L. D., Ma, F., Xing, D., Kim, M., Manda, S. S., Abril, G., Pereira, G., Makohon-Moore, A. P., et al. (2015) · Genome Research · doi:10.1101/gr.196238.115 · Cited by 128 · see citing works
Jung‐Klawitter, S., Fuchs, N. V., Upton, K. R., Muñoz-López, M., Shukla, R., Wang, J., García-Cañadas, M., Lopez‐Ruiz, C., Gerhardt, D. J., Sebe, A., et al. (2016) · Nature Communications · doi:10.1038/ncomms10286 · Cited by 124 · see citing works
Taylor, B. S., DeCarolis, P. L., Angeles, C. V., Brenet, F. A., Schultz, N. D., Antonescu, C. R., Scandura, J. M., Sander, C., Viale, A. J., Socci, N. D., et al. (2011) · Cancer Discovery · doi:10.1158/2159-8290.cd-11-0181 · Cited by 124 · see citing works
A comprehensive approach to expression of L1 loci
Deininger, P. L., Morales, M. E., White, T., Baddoo, M., Hedges, D. J., Servant, G., Srivastav, S. K., Smither, M. E., Concha, M., deHaro, D. L., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw1067 · Cited by 124 · see citing works
Structural variation in 1,019 diverse humans based on long-read sequencing
Schloissnig, S., Pani, S., Ebler, J., Hain, C., Tsapalou, V., Söylev, A., Hüther, P., Ashraf, H., Prodanov, T., Asparuhova, M., et al. (2025) · Nature · doi:10.1038/s41586-025-09290-7 · Cited by 134 · see citing works
Diseases of the nERVous system: retrotransposon activity in neurodegenerative disease
Tam, O. H., Ostrow, L. W., & Hammell, M. (2019) · Mobile DNA · doi:10.1186/s13100-019-0176-1 · Cited by 118 · see citing works
Quinlan, A. R., Boland, M. J., Leibowitz, M. L., Shumilina, S., Pehrson, S. M., Baldwin, K. K., & Hall, I. M. (2011) · Cell stem cell · doi:10.1016/j.stem.2011.07.018 · Cited by 115 · see citing works
The Microprocessor controls the activity of mammalian retrotransposons
Heras, S. R., Macías, S., Plass, M., Fernández, N., Cano, D., Eyras, E., Garcia-Perez, J. L., & Cáceres, J. F. (2013) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.2658 · Cited by 114 · see citing works
Is There a Link Between Genome-Wide Hypomethylation in Blood and Cancer Risk?
Brennan, K., & Flanagan, J. M. (2012) · Cancer Prevention Research · doi:10.1158/1940-6207.capr-12-0316 · Cited by 112 · see citing works
L1 Mosaicism in Mammals: Extent, Effects, and Evolution
Faulkner, G. J., & Garcia-Perez, J. L. (2017) · Trends in Genetics · doi:10.1016/j.tig.2017.07.004 · Cited by 111 · see citing works
The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion
Wimmer, K., Callens, T., Wernstedt, A., & Messiaen, L. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002371 · Cited by 107 · see citing works
TFs for TEs: the transcription factor repertoire of mammalian transposable elementsPreprint
Hermant, C., & Torres‐Padilla, M. (2021) · Genes & Development · doi:10.1101/gad.344473.120 · Cited by 109 · see citing works
Chen, L., Dahlstrom, J. E., Lee, S.-H., & Rangasamy, D. (2012) · Epigenetics · doi:10.4161/epi.20706 · Cited by 104 · see citing works
Characterization of L1 retrotransposition with high-throughput dual-luciferase assays
Xie, Y., Rosser, J. M., Thompson, T. L., Boeke, J. D., & An, W. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkq1076 · Cited by 98 · see citing works
- Authors
- Beck, C. R., Collier, P., Macfarlane, C., Malig, M., Kidd, J. M., Eichler, E. E., Badge, R. M., & Moran, J. V.
- Affiliations
- University of Michigan (US)
- University of Leicester (GB)
- University of Washington (US)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Beck, Christine R.
- Moran, John V.
- ORCID
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2010-06
- Volume
- 141
- Issue
- 7
- Pages
- 1159-1170
- ISSN
- 0092-8674 (ISSN-L)
- PMC
- PMC3013285
- OpenAlex
- W2035120673
- Semantic Scholar
- 67ee6ac6542db4f561b8ca3111a1b988d0d18f4a
- Cited by
- 632
- References
- 81
- Citations by year
- 2026: 39 · 2025: 40 · 2024: 19 · 2023: 37 · 2022: 44 · 2021: 43 · 2020: 38 · 2019: 43 · 2018: 32 · 2017: 49 · 2016: 36 · 2015: 39 · 2014: 30 · 2013: 42 · 2012: 32
- FWCI
- 54.85
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Leicester Research Archive (University of Leicester) (submittedVersion)
- Funders
- National Science Foundation
- Howard Hughes Medical Institute
- Wellcome Trust (075163)
- National Institutes of Health
- National Human Genome Research Institute (P01HG004120, HG004120, T32HG000040)
- National Cancer Institute (5P30 CA 46592, P30CA046592)
- National Institute of General Medical Sciences (T32GM7544, T32GM007544, R01GM082970, GM060518, GM066695, R01GM060518, R01GM066695)
- Topics
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Keywords
- LINE-1 retrotransposition, long interspersed element-1, human genome
- MeSH terms
- Base Sequence, Gene Frequency, Genetics, Population, Humans, Molecular Sequence Data, Phylogeny, Genome, Human, Long Interspersed Nucleotide Elements
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review