LINE-1 Elements in Structural Variation and Disease

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

A map of human genome variation from population-scale sequencing.

The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877

Global variation in copy number in the human genome

Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., Fiegler, H., Shapero, M. H., Carson, A. R., Chen, W., et al. (2006) · Nature · doi:10.1038/nature05329 · Cited by 4,375

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

Detection of large-scale variation in the human genome

Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892

Large-scale copy number polymorphism in the human genome

Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., et al. (2004) · Science · doi:10.1126/science.1098918 · Cited by 2,557

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

The Diploid Genome Sequence of an Individual Human

Levy, S., Sutton, G., Ng, P. C., Feuk, L., Halpern, A. L., Walenz, B. P., Axelrod, N., Huang, J., Kirkness, E. F., Denisov, G., et al. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050254 · Cited by 1,778

The origin and behavior of mutable loci in maize

McClintock, B. (1950) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.36.6.344 · Cited by 1,752

Syncytin is a captive retroviral envelope protein involved in human placental morphogenesis

Mi, S., Lee, X., Li, X., Veldman, G. M., Finnerty, H. F., Collins‐Racie, L. A., LaVallie, E. R., Tang, X.-Y., Edouard, P., Howes, S., et al. (2000) · Nature · doi:10.1038/35001608 · Cited by 1,711

The impact of retrotransposons on human genome evolution

Cordaux, R., & Batzer, M. A. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2640 · Cited by 1,692

Alu repeats and human genomic diversity

Batzer, M., & Deininger, P. (2002) · Nature reviews genetics · doi:10.1038/nrg798 · Cited by 1,522

Molecular Reconstruction of Sleeping Beauty, a Tc1-like Transposon from Fish, and Its Transposition in Human Cells

Ivics, Z., Hackett, P. B., Plasterk, R. H. A., & Izsvák, Z. (1997) · Cell · doi:10.1016/s0092-8674(00)80436-5 · Cited by 1,431

Transposable elements and the evolution of regulatory networks

Feschotte, C. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2337 · Cited by 1,377

Mobile DNA II

(2007) · Wiley eBooks · doi:10.1128/9781555817954 · Cited by 1,305

Trex1 prevents cell-intrinsic initiation of autoimmunity

Stetson, D. B., Ko, J. S., Heidmann, T., & Medzhitov, R. (2008) · Cell · doi:10.1016/j.cell.2008.06.032 · Cited by 1,280

Reverse transcription of R2Bm RNA is primed by a nick at the chromosomal target site: a mechanism for non-LTR retrotransposition

Luan, D. D., Korman, M. H., Jakubczak, J. L., & Eickbush, T. H. (1993) · Cell · doi:10.1016/0092-8674(93)90078-5 · Cited by 1,173

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

Mapping copy number variation by population-scale genome sequencing

1000 Genomes Project, Mills, R. E., Walter, K., Stewart, C., Handsaker, R. E., Chen, K., Alkan, C., Abyzov, A., Yoon, S. C., Ye, K., et al. (2011) · Nature · doi:10.1038/nature09708 · Cited by 1,140

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

Mapping 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

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

Pseudogene-derived small interfering RNAs regulate gene expression in mouse oocytes

Tam, O. H., Aravin, A. A., Stein, P., Girard, A., Murchison, E. P., Cheloufi, S., Hodges, E. C., Anger, M., Sachidanandam, R., Schultz, R. M., et al. (2008) · Nature · doi:10.1038/nature06904 · Cited by 1,042

LINE-mediated retrotransposition of marked Alu sequences

Dewannieux, M., Esnault, C., & Heidmann, T. (2003) · Nature Genetics · doi:10.1038/ng1223 · Cited by 1,026

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

NONVIRAL RETROPOSONS: GENES, PSEUDOGENES, AND TRANSPOSABLE ELEMENTS GENERATED BY THE REVERSE FLOW OF GENETIC INFORMATION

Weiner, A. M., Deininger, P. L., & Efstratiadis, A. (1986) · Annual Review of Biochemistry · doi:10.1146/annurev.bi.55.070186.003215 · Cited by 1,019

Efficient transposition of the piggyBac (PB) transposon in mammalian cells and mice

Ding, S., Wu, X., Li, G., Han, M., Zhuang, Y., & Xu, T. (2005) · Cell · doi:10.1016/j.cell.2005.07.013 · Cited by 1,009

Fine-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 1,000

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man

Kazazian, H. H., Wong, C., Youssoufian, H., Scott, A. F., Phillips, D. G., & Antonarakis, S. E. (1988) · Nature · doi:10.1038/332164a0 · Cited by 960

Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition

Muotri, A. R., Chu, V. T., Marchetto, M. C. N., Deng, W., Moran, J. V., & Gage, F. H. (2005) · Nature · doi:10.1038/nature03663 · Cited by 942

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

Distinct classes of chromosomal rearrangements create oncogenic ETS gene fusions in prostate cancer

Tomlins, S., Laxman, B., Dhanasekaran, S., Helgeson, B. E., Cao, X.-H., Morris, D. S., Menon, A., Jing, X.-J., Cao, Q., Han, B., et al. (2007) · Nature · doi:10.1038/nature06024 · Cited by 904

Human LINE retrotransposons generate processed pseudogenes

Esnault, C., Maestre, J., & Heidmann, T. (2000) · Nature Genetics · doi:10.1038/74184 · Cited by 835

The regulated retrotransposon transcriptome of mammalian cells

Faulkner, G. J., Kimura, Y., Daub, C. O., Wani, S., Plessy, C., Irvine, K. M., Schroder, K., Cloonan, N., Steptoe, A. L., Lassmann, T., et al. (2009) · Nature Genetics · doi:10.1038/ng.368 · Cited by 819

L1 retrotransposition in human neural progenitor cells

Coufal, N. G., Garcia-Perez, J. L., Peng, G. E., Yeo, G. W., Mu, Y., Lovci, M. T., Morell, M., O’Shea, K. S., Moran, J. V., & Gage, F. H. (2009) · Nature · doi:10.1038/nature08248 · Cited by 814

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Lemmers, R. J. L. F., van der Vliet, P. J., Klooster, R., Sacconi, S., Camaño, P., Dauwerse, J. G., Snider, L. D., Straasheijm, K. R., van Ommen, G. J., Padberg, G. W., et al. (2010) · Science · doi:10.1126/science.1189044 · Cited by 789

Biology of Mammalian L1 Retrotransposons

Ostertag, E. M., & Kazazian, H. H. (2001) · Annual Review of Genetics · doi:10.1146/annurev.genet.35.102401.091032 · Cited by 782

Reverse Transcriptase Encoded by a Human Transposable Element

Mathias, S. L., Scott, A. F., Kazazian, H. H., Boeke, J. D., & Gabriel, A. (1991) · Science · doi:10.1126/science.1722352 · Cited by 774

PROCESSED PSEUDOGENES: CHARACTERISTICS AND EVOLUTION

Vanin, E. F. (1985) · Annual Review of Genetics · doi:10.1146/annurev.ge.19.120185.001345 · Cited by 679

Altered Nuclear Retention of mRNAs Containing Inverted Repeats in Human Embryonic Stem Cells: Functional Role of a Nuclear Noncoding RNA

Chen, L., & Carmichael, G. (2009) · Molecular Cell · doi:10.1016/j.molcel.2009.06.027 · Cited by 677

A high-resolution survey of deletion polymorphism in the human genome

Conrad, D. F., Andrews, T. D., Carter, N. P., Hurles, M. E., & Pritchard, J. K. (2005) · Nature Genetics · doi:10.1038/ng1697 · Cited by 672

Cyclophilin A retrotransposition into TRIM5 explains owl monkey resistance to HIV-1

Sayah, D. M., Sokolskaja, E., Berthoux, L., & Luban, J. (2004) · Nature · doi:10.1038/nature02777 · Cited by 662

Retrotransposons Revisited: The Restraint and Rehabilitation of Parasites

Goodier, J. L., & Kazazian, H. H. (2008) · Cell · doi:10.1016/j.cell.2008.09.022 · Cited by 659

Wnt-mediated activation of NeuroD1 and retro-elements during adult neurogenesis

Kuwabara, T., Hsieh, J., Muotri, A., Yeo, G., Warashina, M., Lie, D. C., Moore, L., Nakashima, K., Asashima, M., & Gage, F. H. (2009) · Nature Neuroscience · doi:10.1038/nn.2360 · Cited by 648

Human L1 Retrotransposition: cis Preference versus trans Complementation

Wei, W., Gilbert, N., Ooi, S. L., Lawler, J. F., Ostertag, E. M., Kazazian, H. H., Boeke, J. D., & Moran, J. V. (2001) · Molecular and Cellular Biology · doi:10.1128/mcb.21.4.1429-1439.2001 · Cited by 637

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 635

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

L1 retrotransposition in neurons is modulated by MeCP2

Muotri, A. R., Marchetto, M. C. N., Coufal, N. G., Oefner, R., Yeo, G., Nakashima, K., & Gage, F. H. (2010) · Nature · doi:10.1038/nature09544 · Cited by 626

The origin of interspersed repeats in the human genome

Smit, A. F. A. (1996) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(96)80030-x · Cited by 611

Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes

Lupski, J. R., & Stankiewicz, P. (2005) · PLoS Genetics · doi:10.1371/journal.pgen.0010049 · Cited by 595

Nuclear Receptor-Induced Chromosomal Proximity and DNA Breaks Underlie Specific Translocations in Cancer

Lin, C., Yang, L., Tanasa, B., Hutt, K., Ju, B.-G., Ohgi, K. A., Zhang, J., Rose, D. W., Fu, X.-D., Glass, C. K., et al. (2009) · Cell · doi:10.1016/j.cell.2009.11.030 · Cited by 576

Regulation of Gene Expression: Possible Role of Repetitive Sequences

Davidson, E. H., & Britten, R. J. (1979) · Science · doi:10.1126/science.451548 · Cited by 568

Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer.

Miki, Y., Nishisho, I., Horii, A., Miyoshi, Y., Utsunomiya, J., Kinzler, K. W., Vogelstein, B., & Nakamura, Y. (1992) · PubMed · Cited by 564

Natural 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

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encodingPreprint

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 535

RAG1 Core and V(D)J Recombination Signal Sequences Were Derived from Transib Transposons

Kapitonov, V. V., & Jurka, J. (2005) · PLoS Biology · doi:10.1371/journal.pbio.0030181 · Cited by 521

The impact of L1 retrotransposons on the human genome

Kazazian, H. H., & Moran, J. V. (1998) · Nature Genetics · doi:10.1038/ng0598-19 · Cited by 520

Human L1 element target‐primed reverse transcription in vitro

Cost, G. J., Feng, Q., Jacquier, A., & Boeke, J. D. (2002) · The EMBO Journal · doi:10.1093/emboj/cdf592 · Cited by 519

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

A distal enhancer and an ultraconserved exon are derived from a novel retroposon

Bejerano, G., Lowe, C. B., Ahituv, N., King, B., Siepel, A. C., Salama, S. R., Rubin, E. M., Kent, W. J., & Haussler, D. H. (2006) · Nature · doi:10.1038/nature04696 · Cited by 507

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

Snider, L. D., Geng, L. N., Lemmers, R. J. L. F., Kyba, M., Ware, C. B., Nelson, A. M., Tawil, R., Filippova, G. N., van der Maarel, S. M., Tapscott, S. J., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001181 · Cited by 497

DNA 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

Transcriptional disruption by the L1 retrotransposon and implications for mammalian transcriptomes

Han, J. S., Szak, S. T., & Boeke, J. D. (2004) · Nature · doi:10.1038/nature02536 · Cited by 484

Human 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

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

Mutation in LDL Receptor: Alu-Alu Recombination Deletes Exons Encoding Transmembrane and Cytoplasmic Domains

Lehrman, M. A., Schneider, W. J., Südhof, T. C., Brown, M. S., Goldstein, J. L., & Russell, D. W. (1985) · Science · doi:10.1126/science.3155573 · Cited by 456

X-Chromosome inactivation: a repeat hypothesis

Lyon, M. F. (1998) · Cytogenetic and Genome Research · doi:10.1159/000014969 · Cited by 456

Deletion of Peg10, an imprinted gene acquired from a retrotransposon, causes early embryonic lethality

Ono, R., Nakamura, K., Inoue, K., Naruse, M., Usami, T., Wakisaka‐Saito, N., Hino, T., Suzuki-Migishima, R., Ogonuki, N., Miki, H., et al. (2005) · Nature Genetics · doi:10.1038/ng1699 · Cited by 455

Many 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

An Alu Transposition Model for the Origin and Expansion of Human Segmental Duplications

Bailey, J. A., Liu, G., & Eichler, E. E. (2003) · The American Journal of Human Genetics · doi:10.1086/378594 · Cited by 445

Isolation of an Active Human Transposable Element

Dombroski, B. A., Mathias, S. L., Nanthakumar, E. J., Scott, A. F., & Kazazian, H. H. (1991) · Science · doi:10.1126/science.1662412 · Cited by 443

Antisense Promoter of Human L1 Retrotransposon Drives Transcription of Adjacent Cellular Genes

Speek, M. (2001) · Molecular and Cellular Biology · doi:10.1128/mcb.21.6.1973-1985.2001 · Cited by 443

Identification, Characterization, and Cell Specificity of a Human LINE-1 Promoter

Swergold, G. D. (1990) · Molecular and Cellular Biology · doi:10.1128/mcb.10.12.6718 · Cited by 439

The Birth of an Alternatively Spliced Exon: 3' Splice-Site Selection in Alu Exons

Lev-Maor, G., Sorek, R., Shomron, N., & Ast, G. (2003) · Science · doi:10.1126/science.1082588 · Cited by 435

Millions of Years of Evolution Preserved: A Comprehensive Catalog of the Processed Pseudogenes in the Human GenomePreprint

Zhang, Z. (2003) · Genome Research · doi:10.1101/gr.1429003 · Cited by 435

Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: The Lyon repeat hypothesis

Bailey, J. A., Carrel, L., Chakravarti, A., & Eichler, E. E. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.97.12.6634 · Cited by 431

The APOBEC3 Cytidine Deaminases: An Innate Defensive Network Opposing Exogenous Retroviruses and Endogenous Retroelements

Chiu, Y., & Greene, W. C. (2008) · Annual Review of Immunology · doi:10.1146/annurev.immunol.26.021607.090350 · Cited by 426

Species-specific endogenous retroviruses shape the transcriptional network of the human tumor suppressor protein p53

Wang, T., Zeng, J., Lowe, C. B., Sellers, R. G., Salama, S. R., Yang, M., Burgess, S. M., Brachmann, R. K., & Haussler, D. H. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0703637104 · Cited by 405

L1 retrotransposition is suppressed by endogenously encoded small interfering RNAs in human cultured cells

Yang, N., & Kazazian, H. H. (2006) · Nature Structural & Molecular Biology · doi:10.1038/nsmb1141 · Cited by 398

The Evolutionary Dynamics of Human Endogenous Retroviral Families

Bannert, N., & Kurth, R. (2006) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.7.080505.115700 · Cited by 386

SVA Elements: A Hominid-specific Retroposon Family

Wang, H., Xing, J., Grover, D., Hedges, D. J., Han, K., Walker, J. A., & Batzer, M. A. (2005) · Journal of Molecular Biology · doi:10.1016/j.jmb.2005.09.085 · Cited by 386

Positional cloning of the gene for X-linked retinitis pigmentosa 2

Schwahn, U., Lenzner, S., Dong, J., Feil, S., Hinzmann, B., van Duijnhoven, G., Kirschner‐Schwabe, R., Hemberger, M., Bergen, A. A. B., Rosenberg, T., et al. (1998) · Nature Genetics · doi:10.1038/1214 · Cited by 384

Ancestral, 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

Retroviral Elements and Their Hosts: Insertional Mutagenesis in the Mouse Germ Line

Maksakova, I. A., Romanish, M. T., Gagnier, L., Dunn, C. A., van de Lagemaat, L. N., & Mager, D. L. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020002 · Cited by 374

Molecular evolution and tempo of amplification of human LINE-1 retrotransposons since the origin of primatesPreprint

Khan, H., Smit, A. F. A., & Boissinot, S. (2005) · Genome Research · doi:10.1101/gr.4001406 · Cited by 369

Nucleic Acid Chaperone Activity of the ORF1 Protein from the Mouse LINE-1 Retrotransposon

Martin, S. L., & Bushman, F. D. (2001) · Molecular and Cellular Biology · doi:10.1128/mcb.21.2.467-475.2001 · Cited by 368

L1 retrotransposition occurs mainly in embryogenesis and creates somatic mosaicismPreprint

Kano, H., Godoy, I., Courtney, C., Vetter, M. R., Gerton, G. L., Ostertag, E. M., & Kazazian, H. H. (2009) · Genes & Development · doi:10.1101/gad.1803909 · Cited by 368

SVA Elements Are Nonautonomous Retrotransposons that Cause Disease in Humans

Ostertag, E. M., Goodier, J. L., Zhang, Y., & Kazazian, H. H. (2003) · The American Journal of Human Genetics · doi:10.1086/380207 · Cited by 357

Cytoplasmic ribonucleoprotein complexes containing human LINE‐1 protein and RNA.

Hohjoh, H., & Singer, M. (1996) · The EMBO Journal · doi:10.1002/j.1460-2075.1996.tb00395.x · Cited by 349

An Expressed Fgf4 Retrogene Is Associated with Breed-Defining Chondrodysplasia in Domestic Dogs

Parker, H. G., VonHoldt, B. M., Quignon, P., Margulies, E. H., Shao, S., Mosher, D. S., Spady, T. C., Elkahloun, A., Cargill, M., Jones, P. G., et al. (2009) · Science · doi:10.1126/science.1173275 · Cited by 342

Human Genomic Deletions Mediated by Recombination between Alu Elements

Sen, S. K., Han, K., Wang, J., Lee, J., Wang, H., Callinan, P. A., Dyer, M. D., Cordaux, R., Liang, P., & Batzer, M. A. (2006) · The American Journal of Human Genetics · doi:10.1086/504600 · Cited by 340

LINE-1 Activity in Facultative Heterochromatin Formation during X Chromosome Inactivation

Chow, J., Ciaudo, C., Fazzari, M. J., Mise, N., Servant, N., Glass, J. L., Attreed, M., Avner, P. R., Wutz, A., Barillot, E., et al. (2010) · Cell · doi:10.1016/j.cell.2010.04.042 · Cited by 326

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 326

The evolutionary history of human DNA transposons: Evidence for intense activity in the primate lineagePreprint

Pace, J. K., & Feschotte, C. (2007) · Genome Research · doi:10.1101/gr.5826307 · Cited by 321

Transposon-mediated Genome Manipulations in Vertebrates

Ivics, Z., Li, M., Mátés, L., Boeke, J., Nagy, A., Bradley, A., & Izsvák, Z. (2009) · Nature Methods · doi:10.1038/nmeth.1332 · Cited by 318

Mammalian non-LTR retrotransposons: For better or worse, in sickness and in healthPreprint

Belancio, V. P., Hedges, D. J., & Deininger, P. L. (2008) · Genome Research · doi:10.1101/gr.5558208 · Cited by 317

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

Endogenous retroviral LTRs as promoters for human genes: A critical assessment

Cohen, C. J., Lock, W. M., & Mager, D. L. (2009) · Gene · doi:10.1016/j.gene.2009.06.020 · Cited by 314

Origin of the human L1 elements: Proposed progenitor genes deduced from a consensus DNA sequence

Scott, A. F., Schmeckpeper, B. J., Abdelrazik, M., Comey, C., O’Hara, B. F., Rossiter, J. P., Cooley, T., Heath, P. J., Smith, K. D., & Margolet, L. (1987) · Genomics · doi:10.1016/0888-7543(87)90003-6 · Cited by 313

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

Reconstitution of an Infectious Human Endogenous Retrovirus

Lee, Y. N., & Bieniasz, P. D. (2007) · PLoS Pathogens · doi:10.1371/journal.ppat.0030010 · Cited by 311

Identification of an infectious progenitor for the multiple-copy HERV-K human endogenous retroelements

Dewannieux, M., Harper, F., Richaud, A., Letzelter, C., Ribet, D., Pierron, G., & Heidmann, T. (2006) · Genome Research · doi:10.1101/gr.5565706 · Cited by 309

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 303

High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomesPreprint

Ewing, A. D., & Kazazian, H. H. (2010) · Genome Research · doi:10.1101/gr.106419.110 · Cited by 301

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 301

Transposon tools and methods in zebrafish

Kawakami, K. (2005) · Developmental Dynamics · doi:10.1002/dvdy.20516 · Cited by 298

Direct repeats flank three small nuclear RNA pseudogenes in the human genome

Arsdell, S. W. V., Denison, R. A., Bernstein, L. B., Weiner, A. M., Manser, T. L., & Gesteland, R. F. (1981) · Cell · doi:10.1016/0092-8674(81)90028-3 · Cited by 294

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 293

A Genome-Wide Survey of Human PseudogenesPreprint

Torrents, D. (2003) · Genome Research · doi:10.1101/gr.1455503 · Cited by 293

Cis-preferential LINE-1 reverse transcriptase activity in ribonucleoprotein particles

Kulpa, D. A., & Moran, J. V. (2006) · Nature Structural & Molecular Biology · doi:10.1038/nsmb1107 · Cited by 291

LINE-1 retrotransposons: mediators of somatic variation in neuronal genomes?

Singer, T., McConnell, M. J., Marchetto, M. C., Coufal, N. G., & Gage, F. H. (2010) · Trends in Neurosciences · doi:10.1016/j.tins.2010.04.001 · Cited by 279

Frequent 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

Differential expression of a new dominant agouti allele (Aiapy) is correlated with methylation state and is influenced by parental lineage.Preprint

Michaud, E. J., van Vugt, M. J., Bultman, S. J., Sweet, H. O., Davisson, M. T., & Woychik, R. P. (1994) · Genes & Development · doi:10.1101/gad.8.12.1463 · Cited by 279

Transduction 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 276

LINE-1 ORF1 Protein Localizes in Stress Granules with Other RNA-Binding Proteins, Including Components of RNA Interference RNA-Induced Silencing Complex

Goodier, J. L., Zhang, L., Vetter, M. R., & Kazazian, H. H. (2007) · Molecular and Cellular Biology · doi:10.1128/mcb.00332-07 · Cited by 276

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

RNA truncation by premature polyadenylation attenuates human mobile element activity

Belancio, V. P., & Deininger, P. L. (2003) · Nature Genetics · doi:10.1038/ng1269 · Cited by 263

Mobile Interspersed Repeats Are Major Structural Variants in the Human Genome

Huang, C. R. L., Schneider, A. M., Lu, Y., Niranjan, T., 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 260

Twin Priming: A Proposed Mechanism for the Creation of Inversions in L1 RetrotranspositionPreprint

Ostertag, E. M., & Kazazian, H. H. (2001) · Genome Research · doi:10.1101/gr.205701 · Cited by 255

Population Stratification of a Common APOBEC Gene Deletion Polymorphism

Kidd, J. M., Newman, T. L., Tüzün, E., Kaul, R., & Eichler, E. E. (2007) · PLoS Genetics · doi:10.1371/journal.pgen.0030063 · Cited by 251

Characterization of LINE-1 Ribonucleoprotein Particles

Doucet, A. J., Hulme, A. E., Sahinovic, E., Kulpa, D. A., Moldovan, J. B., Kopera, H. C., Athanikar, J. N., Hasnaoui, M., Bucheton, A., Moran, J. V., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001150 · Cited by 239

Somatic expression of LINE-1 elements in human tissues

Belancio, V. P., Roy-Engel, A. M., Pochampally, R. R., & Deininger, P. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq132 · Cited by 238

LINE-1 retrotransposition in human embryonic stem cells

Garcia-Perez, J. L., Marchetto, M. C., Muotri, A. R., Coufal, N. G., Gage, F. H., O’Shea, K. S., & Moran, J. V. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm105 · Cited by 235

A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion

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

Developmental and cell type specificity of LINE-1 expression in mouse testis: implications for transposition.

Branciforte, D., & Martin, S. L. (1994) · Molecular and Cellular Biology · doi:10.1128/mcb.14.4.2584 · Cited by 231

Many Human Genes Are Transcribed from the Antisense Promoter of L1 Retrotransposon

Nigumann, P., Redik, K., Mätlik, K., & Speek, M. (2002) · Genomics · doi:10.1006/geno.2002.6758 · Cited by 229

Genomewide Screening Reveals High Levels of Insertional Polymorphism in the Human Endogenous Retrovirus Family HERV-K(HML2): Implications for Present-Day Activity

Belshaw, R., Dawson, A. L. A., Woolven-Allen, J., Redding, J., Burt, A., & Tristem, M. (2005) · Journal of Virology · doi:10.1128/jvi.79.19.12507-12514.2005 · Cited by 227

Alu Repeats: A Source for the Genesis of Primate Microsatellites

Arcot, S. S., Wang, Z., Weber, J. L., Deininger, P. L., & Batzer, M. A. (1995) · Genomics · doi:10.1006/geno.1995.1224 · Cited by 226

A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease

Chen, J., Stenson, P. D., Cooper, D. N., & Férec, C. (2005) · Human Genetics · doi:10.1007/s00439-005-1321-0 · Cited by 226

Transposition of hAT elements links transposable elements and V(D)J recombination

Zhou, L., Mitra, R., Atkinson, P. W., Burgess Hickman, A., Dyda, F., & Craig, N. L. (2004) · Nature · doi:10.1038/nature03157 · Cited by 224

Identification and Analysis of Over 2000 Ribosomal Protein Pseudogenes in the Human GenomePreprint

Zhang, Z., Harrison, P., & Gerstein, M. (2002) · Genome Research · doi:10.1101/gr.331902 · Cited by 219

Ribonucleoprotein particles with LINE-1 RNA in mouse embryonal carcinoma cells.

Martin, S. L. (1991) · Molecular and Cellular Biology · doi:10.1128/mcb.11.9.4804 · Cited by 214

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 213

A Transposon and Transposase System for Human Application

Hackett, P. B., Largaespada, D. A., & Cooper, L. J. N. (2010) · Molecular Therapy · doi:10.1038/mt.2010.2 · Cited by 209

Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.

Narita, N., Nishio, H., Kitoh, Y., Ishikawa, Y., Ishikawa, Y., Minami, R., Nakamura, H., & Matsuo, M. (1993) · Journal of Clinical Investigation · doi:10.1172/jci116402 · Cited by 207

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 206

Antiretroelement Activity of APOBEC3H Was Lost Twice in Recent Human Evolution

OhAinle, M., Kerns, J. A., Li, M. M. H., Malik, H. S., & Emerman, M. (2008) · Cell Host & Microbe · doi:10.1016/j.chom.2008.07.005 · Cited by 204

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

Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication.

Shen, L., Wu, L., Şanlıoğlu, S., Chen, R., Mendoza, A. R., Dangel, A. W., Carroll, M. C., Zipf, W. B., & Yu, C. Y. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)37217-4 · Cited by 198

Transcribed processed pseudogenes in the human genome: an intermediate form of expressed retrosequence lacking protein-coding ability

Harrison, P. M. (2005) · Nucleic Acids Research · doi:10.1093/nar/gki531 · Cited by 197

Defining the beginning and end of KpnI family segments.

Grimaldi, G., Skowroński, J., & Singer, M. (1984) · The EMBO Journal · doi:10.1002/j.1460-2075.1984.tb02042.x · Cited by 196

L1 retrotransposition can occur early in human embryonic development

van den Hurk, J. A. J. M., Meij, I. C., del Carmen Seleme, M., Kano, H., Nikopoulos, K., Hoefsloot, L. H., Sistermans, E. A., de Wijs, I. J., Mukhopadhyay, A., Plomp, A. S., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm108 · Cited by 193

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

Possible involvement of SINEs in mammalian-specific brain formation

Sasaki, T., Nishihara, H., Hirakawa, M., Fujimura, K., Tanaka, M., Kokubo, N., Kimura-Yoshida, C., Matsuo, I., Sumiyama, K., Saitou, N., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0709398105 · Cited by 189

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 186

Epigenetic silencing of engineered L1 retrotransposition events in human embryonic carcinoma cells

Garcia-Perez, J. L., Morell, M. H., Scheys, J. O., Kulpa, D. A., Morell, S., Carter, C. C., Hammer, G. D., Collins, K. L., O’Shea, K. S., Menéndez, P. R., et al. (2010) · Nature · doi:10.1038/nature09209 · Cited by 186

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 186

Upstream sequences modulate the internal promoter of the human 7SL RNA gene

Ullu, E., & Weiner, A. M. (1985) · Nature · doi:10.1038/318371a0 · Cited by 181

Ribonucleoprotein 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

L1 retrotransposition in nondividing and primary human somatic cells

Kubo, S., Seleme, M. D. C., Soifer, H. S., Garcia-Perez, J. L., Moran, J. V., Kazazian, H. H., & Kasahara, N. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0601954103 · Cited by 180

Endonuclease-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

Cell Type-specific Expression of LINE-1 Open Reading Frames 1 and 2 in Fetal and Adult Human Tissues

Ergün, S., Buschmann, C., Heukeshoven, J., Dammann, K., Schnieders, F., Lauke, H., Chalajour, F., Kilic, N., Strätling, W. H., & Schumann, G. G. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m312985200 · Cited by 175

In vitro properties of the first ORF protein from mouse LINE-1 support its role in ribonucleoprotein particle formation during retrotransposition

Kolosha, V. O., & Martin, S. L. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.19.10155 · Cited by 175

Emergence of primate genes by retrotransposon-mediated sequence transduction

Xing, J., Wang, H., Belancio, V. P., Cordaux, R., Deininger, P. L., & Batzer, M. A. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0603224103 · Cited by 175

Full-Length Human L1 Insertions Retain the Capacity for High Frequency Retrotransposition in Cultured Cells

Kimberland, 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

Large-scale analysis of the Alu Ya5 and Yb8 subfamilies and their contribution to human genomic diversity

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

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 168

An important role for RUNX3 in human L1 transcription and retrotransposition

Yang, N. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg663 · Cited by 167

Mammalian Small Nucleolar RNAs Are Mobile Genetic Elements

Weber, M. J. (2005) · PLoS Genetics · doi:10.1371/journal.pgen.0020205 · Cited by 166

Meta‐Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

Chen, J., Chuzhanova, N. A., Stenson, P. D., Férec, C., & Cooper, D. N. (2005) · Human Mutation · doi:10.1002/humu.20133 · Cited by 166

Members of the SRY family regulate the human LINE retrotransposons

Tchénio, T. (2000) · Nucleic Acids Research · doi:10.1093/nar/28.2.411 · Cited by 162

Recently Mobilized Transposons in the Human and Chimpanzee Genomes

Mills, R. E., Bennett, E. A., Iskow, R. C., Luttig, C. T., Tsui, C. W., Pittard, W. S., & Devine, S. E. (2006) · The American Journal of Human Genetics · doi:10.1086/501028 · Cited by 161

Non-LTR retrotransposons encode noncanonical RRM domains in their first open reading frame

Khazina, E., & Weichenrieder, O. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0809964106 · Cited by 160

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

Alu -mediated inactivation of the human CMP- N -acetylneuraminic acid hydroxylase gene

Hayakawa, T., Satta, Y., Gagneux, P., Varki, A. P., & Takahata, N. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.191268198 · Cited by 154

Genomic rearrangements by LINE-1 insertion-mediated deletion in the human and chimpanzee lineages

Han, K. (2005) · Nucleic Acids Research · doi:10.1093/nar/gki718 · Cited by 152

mRNA retroposition in human cells: processed pseudogene formation.

Maestre, J., Tchénio, T., Dhellin, O., & Heidmann, T. (1995) · The EMBO Journal · doi:10.1002/j.1460-2075.1995.tb00324.x · Cited by 150

Whole-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

Telomere-associated endonuclease-deficient Penelope -like retroelements in diverse eukaryotes

Gladyshev, E. A., & Arkhipova, I. R. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0702741104 · Cited by 146

Binding of the ubiquitous nuclear transcription factor YY1 to a cis regulatory sequence in the human LINE-1 transposable element

Becker, K. G., Swergold, G. D., Ozato, K., & Thayer, R. E. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.10.1697 · Cited by 146

Tightly regulated, developmentally specific expression of the first open reading frame from LINE-1 during mouse embryogenesis.

Trelogan, S., & Martin, S. L. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.5.1520 · Cited by 144

L1 recombination-associated deletions generate human genomic variation

Han, K., Lee, J., Meyer, T. J., Remedios, P., Goodwin, L. M., & Batzer, M. A. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0807866105 · Cited by 144

Insertional polymorphisms: a new lease of life for endogenous retroviruses in human disease

Moyes, D. L., Griffiths, D. J., & Venables, P. J. (2007) · Trends in Genetics · doi:10.1016/j.tig.2007.05.004 · Cited by 141

Reading 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

Characterization of a Non-long Terminal Repeat Retrotransposon cDNA (L1Tc) from : Homology of the First ORF with the Ape Family of DNA Repair Enzymes

Martı́n, F., Marañón, C., Olivares, M., Alonso, C., & López, M. C. (1995) · Journal of Molecular Biology · doi:10.1006/jmbi.1994.0121 · Cited by 140

Deletions in processed pseudogenes accumulate faster in rodents than in humans

Graur, D., Shuali, Y., & Li, W. (1989) · Journal of Molecular Evolution · doi:10.1007/bf02103423 · Cited by 139

Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease 1 1Edited by J. Karn

Burwinkel, B., & Kilimann, M. W. (1998) · Journal of Molecular Biology · doi:10.1006/jmbi.1998.1641 · Cited by 138

Widespread establishment and regulatory impact of Alu exons in human genes

Shen, S., Lin, L., Cai, J. J., Jiang, P., Kenkel, E. J., Stroik, M. R., Sato, S., Davidson, B. L., & Xing, Y. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1012834108 · Cited by 137

The LINE-1 DNA sequences in four mammalian orders predict proteins that conserve homologies to retrovirus proteins

Fanning, T. G., & Singer, M. (1987) · Nucleic Acids Research · doi:10.1093/nar/15.5.2251 · Cited by 136

Alu Retrotransposition-mediated Deletion

Callinan, P. A., Wang, J., Herke, S. W., Garber, R. K., Liang, P., & Batzer, M. A. (2005) · Journal of Molecular Biology · doi:10.1016/j.jmb.2005.02.043 · Cited by 135

L1 Antisense Promoter Drives Tissue‐Specific Transcriptionof Human Genes

Mätlik, K., Redik, K., & Speek, M. (2006) · BioMed Research International · doi:10.1155/jbb/2006/71753 · Cited by 133

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

Trimeric structure for an essential protein in L1 retrotransposition

Martin, S. L., Branciforte, D., Keller, D., & Bain, D. L. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2336221100 · Cited by 131

Gene-breaking: A new paradigm for human retrotransposon-mediated gene evolutionPreprint

Wheelan, S. J., Aizawa, Y., Han, J. S., & Boeke, J. D. (2005) · Genome Research · doi:10.1101/gr.3688905 · Cited by 129

Genomic 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 125

Efficient Translation Initiation Directed by the 900-Nucleotide-Long and GC-Rich 5′ Untranslated Region of the Human Retrotransposon LINE-1 mRNA Is Strictly Cap Dependent Rather than Internal Ribosome Entry Site Mediated

Dmitriev, S. E., Andreev, D. E., Terenin, I. M., Olovnikov, I. A., Prassolov, V., Merrick, W. C., & Shatsky, I. N. (2007) · Molecular and Cellular Biology · doi:10.1128/mcb.02138-06 · Cited by 125

Adaptive Evolution in LINE-1 Retrotransposons

Boissinot, S., & Furano, A. V. (2001) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a003765 · Cited by 122

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

Studies on p40, the leucine zipper motif-containing protein encoded by the first open reading frame of an active human LINE-1 transposable element.

Holmes, S. E., Singer, M., & Swergold, G. D. (1992) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)88618-0 · Cited by 121

Distinct mechanisms for trans-mediated mobilization of cellular RNAs by the LINE-1 reverse transcriptasePreprint

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

Abundant pseudogenes for small nuclear RNAs are dispersed in the human genome.

Denison, R. A., Arsdell, S. W. V., Bernstein, L. B., & Weiner, A. M. (1981) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.78.2.810 · Cited by 120

5′-Transducing SVA retrotransposon groups spread efficiently throughout the human genomePreprint

Damert, A., Raiz, J., Horn, A. V., Löwer, J., Wang, H., Xing, J., Batzer, M. A., Löwer, R., & Schumann, G. G. (2009) · Genome Research · doi:10.1101/gr.093435.109 · Cited by 117

Proposed roles for DNA methylation inAlutranscriptional repression and mutational inactivation

Liu, W.-M., & Schmid, C. W. (1993) · Nucleic Acids Research · doi:10.1093/nar/21.6.1351 · Cited by 116

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

Recently Integrated Alu Elements and Human Genomic Diversity

Salem, A. H. (2003) · Molecular Biology and Evolution · doi:10.1093/molbev/msg150 · Cited by 114

LINE-1 Elements at the Sites of Molecular Rearrangements in Alport Syndrome–Diffuse Leiomyomatosis

Segal, Y., Peissel, B., Renieri, A., Marchi, M., Ballabio, A., Pei, Y., & Zhou, J. (1999) · The American Journal of Human Genetics · doi:10.1086/302213 · Cited by 113

The human L1 promoter: Variable transcription initiation sites and a major impact of upstream flanking sequence on promoter activityPreprint

Lavie, L., Maldener, E., Brouha, B., Meese, E. U., & Mayer, J. M. (2004) · Genome Research · doi:10.1101/gr.2745804 · Cited by 113

Identification of an internal cis-element essential for the human Li transcription and a nuclear factor(s) binding to the element

Minakami, R., Kurose, K., Etoh, K., Furuhata, Y., Hattori, M., & Sakaki, Y. (1992) · Nucleic Acids Research · doi:10.1093/nar/20.12.3139 · Cited by 112

Analysis of 5′ junctions of human LINE-1 and Alu retrotransposons suggests an alternative model for 5′-end attachment requiring microhomology-mediated end-joining

Zingler, N., Willhoeft, U., Brose, H.-P., Schoder, V., Jahns, T., Hanschmann, K.-M. O., Morrish, T. A., Löwer, J., & Schumann, G. G. (2005) · Genome Research · doi:10.1101/gr.3421505 · Cited by 111

Exon-trapping mediated by the human retrotransposon SVAPreprint

Hancks, D. C., Ewing, A. D., Chen, J. E., Tokunaga, K., & Kazazian, H. H. (2009) · Genome Research · doi:10.1101/gr.093153.109 · Cited by 111

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

Biomarkers of Nutrition for Development—Folate Review

Bailey, L. B., Stover, P. J., McNulty, H., Fenech, M. F., Gregory, J. F., Mills, J. L., Pfeiffer, C. M., Fazili, Z., Zhang, M., Ueland, P. M., et al. (2015) · Journal of Nutrition · doi:10.3945/jn.114.206599 · Cited by 1,170

Endogenous viruses: insights into viral evolution and impact on host biology

Feschotte, C., & Gilbert, C. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3199 · Cited by 918

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

Malhotra, D., & Sebat, J. (2012) · Cell · doi:10.1016/j.cell.2012.02.039 · Cited by 854

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

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

Retrotransposons as regulators of gene expression

Elbarbary, R. A., Lucas, B. A., & Maquat, L. E. (2016) · Science · doi:10.1126/science.aac7247 · Cited by 447

Mobile DNA in Health and Disease

Kazazian, H. H., & Moran, J. V. (2017) · New England Journal of Medicine · doi:10.1056/nejmra1510092 · Cited by 445

Restricting retrotransposons: a review

Goodier, J. L. (2016) · Mobile DNA · doi:10.1186/s13100-016-0070-z · Cited by 436

Historical review of the causes of cancer

Blackadar, C. B. (2016) · World Journal of Clinical Oncology · doi:10.5306/wjco.v7.i1.54 · Cited by 418

From telomere to telomere: The transcriptional and epigenetic state of human repeat elements

Hoyt, S. J., Storer, J. M., Hartley, G. A., Grady, P. G. S., Gershman, A., de Lima, L. G., Limouse, C., Halabian, R., Wojenski, L., Rodriguez, M., et al. (2022) · Science · doi:10.1126/science.abk3112 · Cited by 411

Selective silencing of euchromatic L1s revealed by genome-wide screens for L1 regulators

Liu, N., Lee, C. H., Swigut, T., Grow, E. J., Gu, B., Bassik, M. C., & Wysocka, J. (2017) · Nature · doi:10.1038/nature25179 · Cited by 375

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 369

The impact of transposable elements on eukaryotic genomes: From genome size increase to genetic adaptation to stressful environments

Chénais, B., Caruso, A., Hiard, S., & Casse, N. (2012) · Gene · doi:10.1016/j.gene.2012.07.042 · Cited by 358

The Arabidopsis thaliana mobilome and its impact at the species level

Quadrana, L., Silveira, A. B., Mayhew, G. F., LeBlanc, C., Martienssen, R. A., Jeddeloh, J. A., & Colot, V. (2016) · eLife · doi:10.7554/elife.15716 · Cited by 332

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 331

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

A 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 315

Somatic mosaicism: implications for disease and transmission genetics

Campbell, I. M., Shaw, C. A., Stankiewicz, P., & Lupski, J. R. (2015) · Trends in Genetics · doi:10.1016/j.tig.2015.03.013 · Cited by 296

Global DNA Hypomethylation in Epithelial Ovarian Cancer: Passive Demethylation and Association with Genomic Instability

Zhang, W., Klinkebiel, D. L., Barger, C. J., Pandey, S., Guda, C., Miller, A., Akers, S. N., Odunsi, K. O., & Karpf, A. R. (2020) · Cancers · doi:10.3390/cancers12030764 · Cited by 276

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 275

p53 cooperates with DNA methylation and a suicidal interferon response to maintain epigenetic silencing of repeats and noncoding RNAs

Leonova, K. I., Brodsky, L., Lipchick, B. C., Pal, M., Novototskaya, L. R., Chenchik, A. A., Sen, G. C., Komarova, E. A., & Gudkov, A. V. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1216922110 · Cited by 273

The Developmental Control of Transposable Elements and the Evolution of Higher Species

Friedli, M., & Trono, D. (2015) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev-cellbio-100814-125514 · Cited by 271

New Trends in Aryl Hydrocarbon Receptor Biology

Mulero‐Navarro, S., & Fernández‐Salguero, P. M. (2016) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2016.00045 · Cited by 262

Affinity Proteomics Reveals Human Host Factors Implicated in Discrete Stages of LINE-1 Retrotransposition

Taylor, M. S., LaCava, J., Mita, P., Molloy, K. R., Huang, C. R. L., Li, D., Adney, E. M., Jiang, H. L., Burns, K. H., Chait, B. T., et al. (2013) · Cell · doi:10.1016/j.cell.2013.10.021 · Cited by 250

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 241

Lipoprotein(a) beyond the kringle IV repeat polymorphism: The complexity of genetic variation in the LPA gene

Coassin, S., & Kronenberg, F. (2022) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2022.04.003 · Cited by 231

Ataxia telangiectasia mutated (ATM) modulates long interspersed element-1 (L1) retrotransposition in human neural stem cells

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

Evolutionally dynamic L1 regulation in embryonic stem cells

Castro-Diaz, N., Ecco, G., Coluccio, A., Kapopoulou, A., Yazdanpanah, B., Friedli, M., Duc, J., Jang, S. M., Turelli, P., & Trono, D. (2014) · Genes & Development · doi:10.1101/gad.241661.114 · Cited by 225

Transposable elements: genome innovation, chromosome diversity, and centromere conflict

Klein, S. J., & O'Neill, R. J. W. (2018) · Chromosome Research · doi:10.1007/s10577-017-9569-5 · Cited by 224

De Novo Assembly and Annotation of the Asian Tiger Mosquito (Aedes albopictus) Repeatome with dnaPipeTE from Raw Genomic Reads and Comparative Analysis with the Yellow Fever Mosquito (Aedes aegypti)

Goubert, C., Modolo, L., Vieira, C. P., Moro, C. V., Mavingui, P., & Boulesteix, M. (2015) · Genome Biology and Evolution · doi:10.1093/gbe/evv050 · Cited by 219

How retrotransposons shape genome regulation

Mita, P., & Boeke, J. D. (2016) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2016.01.001 · Cited by 215

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 200

Modulation of LINE-1 and Alu/SVA Retrotransposition by Aicardi-Goutières Syndrome-Related SAMHD1

Zhao, K., Du, J., Han, X., Goodier, J. L., Li, P., Zhou, X., Wei, W., Evans, S. L., Li, L., Zhang, W., et al. (2013) · Cell Reports · doi:10.1016/j.celrep.2013.08.019 · Cited by 194

Activation of individual L1 retrotransposon instances is restricted to cell-type dependent permissive loci

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 187

Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse

Bellone, R. R., Holl, H. M., Setaluri, V., Devi, S., Maddodi, N., Archer, S., Sandmeyer, L. S., Ludwig, A., Förster, D. W., Pruvost, M., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0078280 · Cited by 185

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 183

Mapping the LINE1 ORF1 protein interactome reveals associated inhibitors of human retrotransposition

Goodier, J. L., Cheung, L. E., & Kazazian, H. H. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt512 · Cited by 180

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

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 174

Genetic conflicts: the usual suspects and beyond

McLaughlin, R. N., & Malik, H. S. (2017) · Journal of Experimental Biology · doi:10.1242/jeb.148148 · Cited by 174

Epigenetics in lung cancer diagnosis and therapy

Mehta, A., Dobersch, S., Romero‐Olmedo, A. J., & Barreto, G. (2015) · Cancer and Metastasis Reviews · doi:10.1007/s10555-015-9563-3 · Cited by 171

A 19-isolate reference-quality global pangenome for the fungal wheat pathogen Zymoseptoria tritici

Badet, T., Oggenfuss, U., Abraham, L., McDonald, B. A., & Croll, D. (2020) · BMC Biology · doi:10.1186/s12915-020-0744-3 · Cited by 166

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, A., Amador‐Cubero, S., Blanco-Jimenez, E., et al. (2016) · Genome Research · doi:10.1101/gr.206805.116 · Cited by 166

Centromere Repeats: Hidden Gems of the Genome

Hartley, G. A., & O'Neill, R. J. W. (2019) · Genes · doi:10.3390/genes10030223 · Cited by 161

LINE-1 expression and retrotransposition in Barrett’s esophagus and esophageal carcinoma

Doucet-O’Hare, T. T., Rodić, N., Sharma, R., Darbari, I., Abril, G., Choi, J. A., Ahn, J. Y., Cheng, Y., Anders, R. A., Burns, K. H., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1502474112 · Cited by 158

L1Base 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 155

Prediction of genome-wide DNA methylation in repetitive elements

Zheng, Y., Joyce, B. T., Liu, L., Zhang, Z., Kibbe, W. A., Zhang, W., & Hou, L. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkx587 · Cited by 154

Mechanisms of structural chromosomal rearrangement formation

Burssed, B., Zamariolli, M., Bellucco, F. T. D. S., & Melaragno, M. I. (2022) · Molecular Cytogenetics · doi:10.1186/s13039-022-00600-6 · Cited by 154

Autophagy supports genomic stability by degrading retrotransposon RNA

Guo, H., Chitiprolu, M., GAGNON, D. R., Meng, L., Perez‐Iratxeta, C., Lagace, D. C., & Gibbings, D. (2014) · Nature Communications · doi:10.1038/ncomms6276 · Cited by 153

Transposable element detection from whole genome sequence data

Ewing, A. D. (2015) · Mobile DNA · doi:10.1186/s13100-015-0055-3 · Cited by 153

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 150

Retroelements in human disease

Kaer, K., & Speek, M. (2013) · Gene · doi:10.1016/j.gene.2013.01.008 · Cited by 150

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 149

Retrotransposons

Finnegan, D. (2012) · Current Biology · doi:10.1016/j.cub.2012.04.025 · Cited by 148

Response of transposable elements to environmental stressors

Miousse, I. R., Chalbot, M. G., Lumen, A., Ferguson, A., Kavouras, I. G., & Koturbash, I. (2015) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2015.05.003 · Cited by 148

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 141

APOBEC3A deaminates transiently exposed single-strand DNA during LINE-1 retrotransposition

Richardson, S. R., Narvaiza, I., Planegger, R. A., Weitzman, M. D., & Moran, J. V. (2014) · eLife · doi:10.7554/elife.02008 · Cited by 138

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

Insights into mammalian TE diversity through the curation of 248 genome assemblies

Osmanski, A. B., Paulat, N. S., Korstian, J. M., Grimshaw, J., Halsey, M. K., Sullivan, K. A. M., Moreno-Santillán, D. D., Crookshanks, C., Roberts, J., Garcia, C. J., et al. (2023) · Science · doi:10.1126/science.abn1430 · Cited by 137

The genetics of human longevity: an intricacy of genes, environment, culture and microbiome

Dato, S., Rose, G., Crocco, P., Monti, D., Garagnani, P., Franceschi, C., & Passarino, G. (2017) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2017.03.011 · Cited by 135

Reprogramming triggers endogenous L1 and Alu retrotransposition in human induced pluripotent stem cells

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 131

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

Gene-specific DNA methylation in newborns in response to folic acid supplementation during the second and third trimesters of pregnancy: epigenetic analysis from a randomized controlled trial

Caffrey, A., Irwin, R. E., McNulty, H., Strain, J. J., Lees‐Murdock, D. J., McNulty, B. A., Ward, M., Walsh, C. P., & Pentieva, K. D. (2018) · American Journal of Clinical Nutrition · doi:10.1093/ajcn/nqx069 · Cited by 126

Transposable element regulation and expression in cancer

Grundy, E. E., Diab, N., & Chiappinelli, K. B. (2021) · FEBS Journal · doi:10.1111/febs.15722 · Cited by 124

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 123

Transposable Elements: A Common Feature of Neurodevelopmental and Neurodegenerative Disorders

Jönsson, M. E., Garza, R., Johansson, P. A., & Jakobsson, J. (2020) · Trends in Genetics · doi:10.1016/j.tig.2020.05.004 · Cited by 122

SAMHD1 Inhibits LINE-1 Retrotransposition by Promoting Stress Granule Formation

Hu, S., Li, J., Xu, F., Mei, S., Le Duff, Y., Yin, L., Pang, X., Cen, S., Jin, Q., Liang, C., et al. (2015) · PLOS Genetics · doi:10.1371/journal.pgen.1005367 · Cited by 121

A mouse-specific retrotransposon drives a conserved Cdk2ap1 isoform essential for development

Modzelewski, A. J., Shao, W., Chen, J., Lee, A., Qi, X., Noon, M., Tjokro, K., Sales, G., Biton, A., Anand, A., et al. (2021) · Cell · doi:10.1016/j.cell.2021.09.021 · Cited by 120

Activation of neuronal genes via LINE-1 elements upon global DNA demethylation in human neural progenitors

Jönsson, M. E., Brattås, P. L., Gustafsson, C., Petri, R., Yudovich, D., Pircs, K., Verschuere, S., Madsen, S., Hansson, J., Larsson, J., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-11150-8 · Cited by 117

Comprehensive identification of transposable element insertions using multiple sequencing technologies

Chu, C., Borges-Monroy, R., Viswanadham, V., Lee, S., Li, H., Lee, E. A., & Park, P. J. (2021) · Nature Communications · doi:10.1038/s41467-021-24041-8 · Cited by 116

New Understanding of the Relevant Role of LINE-1 Retrotransposition in Human Disease and Immune Modulation

Zhang, X. L., Zhang, R., & Yu, J. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.00657 · Cited by 114

LINE-1 retrotransposition and its deregulation in cancers: implications for therapeutic opportunitiesPreprint

Mendez‐Dorantes, C., & Burns, K. H. (2023) · Genes & Development · doi:10.1101/gad.351051.123 · Cited by 114

Silencing of LINE-1 retrotransposons is a selective dependency of myeloid leukemia

Gu, Z., Liu, Y., Zhang, Y., Cao, H., Lyu, J., Wang, X., Wylie, A., Newkirk, S. J., Jones, A. E., Lee, M., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00829-8 · Cited by 111

Mobster: accurate detection of mobile element insertions in next generation sequencing data

Thung, D. T., de Ligt, J., Vissers, L. E. L. M., Steehouwer, M., Kroon, M., de Vries, P., Slagboom, P. E., Ye, K., Veltman, J. A., & Hehir‐Kwa, J. Y. (2014) · Genome biology · doi:10.1186/s13059-014-0488-x · Cited by 110

Genome-wide analyses of LINE–LINE-mediated nonallelic homologous recombination

Startek, M. P., Szafrański, P., Gambin, T., Campbell, I. M., Hixson, P. M., Shaw, C. A., Stankiewicz, P., & Gambin, A. (2015) · Nucleic Acids Research · doi:10.1093/nar/gku1394 · Cited by 110

Somatic Mutagenesis in Mammals and Its Implications for Human Disease and Aging

Zhang, L., & Vijg, J. (2018) · Annual Review of Genetics · doi:10.1146/annurev-genet-120417-031501 · Cited by 108

Endogenous APOBEC3B Restricts LINE-1 Retrotransposition in Transformed Cells and Human Embryonic Stem Cells

Wissing, S., Montaño, M., Garcia-Perez, J. L., Moran, J. V., & Greene, W. C. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.251058 · Cited by 108

Endogenous MOV10 inhibits the retrotransposition of endogenous retroelements but not the replication of exogenous retroviruses

Arjan-Odedra, S., Swanson, C. M., Sherer, N. M., Wolinsky, S. M., & Malim, M. H. (2012) · Retrovirology · doi:10.1186/1742-4690-9-53 · Cited by 108

Patterns and mechanisms of structural variations in human cancer

Yi, K., & Ju, Y. S. (2018) · Experimental & Molecular Medicine · doi:10.1038/s12276-018-0112-3 · Cited by 108

LINE-1 Retrotransposition in the Nervous System

Thomas, C. A., Paquola, A. C. M., & Muotri, A. R. (2012) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev-cellbio-101011-155822 · Cited by 108

Engrailed homeoprotein blocks degeneration in adult dopaminergic neurons through LINE‐1 repression

de Thé, F.-X. B., Rekaik, H., Pezé-Heidsieck, E., Massiani-Beaudoin, O., Joshi, R. L., Fuchs, J., & Prochiantz, A. (2018) · The EMBO Journal · doi:10.15252/embj.201797374 · Cited by 106

Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangementsPreprint

Song, X., Beck, C. R., Du, R., Campbell, I. M., Coban‐Akdemir, Z., Gu, S., Breman, A. M., Stankiewicz, P., Ira, G., Shaw, C. A., et al. (2018) · Genome Research · doi:10.1101/gr.229401.117 · Cited by 102

Sensing of transposable elements by the antiviral innate immune system

Gázquez-Gutiérrez, A., Witteveldt, J., Heras, S. R., & Macías, S. (2021) · RNA · doi:10.1261/rna.078721.121 · Cited by 101

L1 retrotransposons, cancer stem cells and oncogenesis

Carreira, P. E., Richardson, S. R., & Faulkner, G. J. (2013) · FEBS Journal · doi:10.1111/febs.12601 · Cited by 100

LINE-1 transcription activates long-range gene expression

Li, X., Bie, L., Wang, Y., Hong, Y., Zhou, Z., Fan, Y., Yan, X., Tao, Y., Huang, C., Zhang, Y., et al. (2024) · Nature Genetics · doi:10.1038/s41588-024-01789-5 · Cited by 97

Mobile elements in the human genome: implications for disease

Sólyom, S., & Kazazian, H. H. (2012) · Genome Medicine · doi:10.1186/gm311 · Cited by 97

SAMHD1 Functions and Human Diseases

Coggins, S. A., Mahboubi, B., Schinazi, R. F., & Kim, B. (2020) · Viruses · doi:10.3390/v12040382 · Cited by 96

Identification and characterization of occult human-specific LINE-1 insertions using long-read sequencing technology

Zhou, W., Emery, S. B., Flasch, D. A., Wang, Y., Kwan, K. Y., Kidd, J. M., Moran, J. V., & Mills, R. E. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz1173 · Cited by 95

CTRL+INSERT: retrotransposons and their contribution to regulation and innovation of the transcriptome

Göke, J., & Ng, H. (2016) · EMBO Reports · doi:10.15252/embr.201642743 · Cited by 93

Uridylation by TUT4/7 Restricts Retrotransposition of Human LINE-1s

Warkocki, Z., Krawczyk, P. S., Adamska, D., Bijata, K., Garcia-Perez, J. L., & Dziembowski, A. (2018) · Cell · doi:10.1016/j.cell.2018.07.022 · Cited by 93

The role of environmental exposures and the epigenome in health and disease

Perera, B. P. U., Faulk, C. D., Svoboda, L. K., Goodrich, J. M., & Dolinoy, D. C. (2019) · Environmental and Molecular Mutagenesis · doi:10.1002/em.22311 · Cited by 91

Type W Human Endogenous Retrovirus (HERV-W) Integrations and Their Mobilization by L1 Machinery: Contribution to the Human Transcriptome and Impact on the Host Physiopathology

Grandi, N., & Tramontano, E. (2017) · Viruses · doi:10.3390/v9070162 · Cited by 90

LINE-1 retrotransposons drive human neuronal transcriptome complexity and functional diversification

Garza, R., Atacho, D. A. M., Adami, A., Gerdes, P., Vinod, M., Hsieh, P., Karlsson, O., Horváth, V., Johansson, P. A., Pandiloski, N., et al. (2023) · Science Advances · doi:10.1126/sciadv.adh9543 · Cited by 88

Epigenetic Regulation in Oral Squamous Cell Carcinoma Microenvironment: A Comprehensive Review

Mesgari, H., Esmaelian, S., Nasiri, K., Ghasemzadeh, S., Doroudgar, P., & Payandeh, Z. (2023) · Cancers · doi:10.3390/cancers15235600 · Cited by 87

Crystal structures of a group II intron maturase reveal a missing link in spliceosome evolution

Zhao, C., & Pyle, A. M. (2016) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.3224 · Cited by 82

Mobilization of LINE-1 retrotransposons is restricted by Tex19.1 in mouse embryonic stem cells

MacLennan, M., García-Cañadas, M., Reichmann, J., Khazina, E., Wagner, G., Playfoot, C. J., Salvador‐Palomeque, C., Mann, A. R., Peressini, P., Sánchez, L., et al. (2017) · eLife · doi:10.7554/elife.26152 · Cited by 82

Role of Transposable Elements in Genome Stability: Implications for Health and Disease

Bhat, A., Ghatage, T., Bhan, S., Lahane, G. P., Dhar, A., Kumar, R., PANDITA, R. K., Bhat, K. M., Ramos, K. S., & Pandita, T. K. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23147802 · Cited by 82

Benchmarking computational tools for polymorphic transposable element detection

Rishishwar, L., Mariño‐Ramírez, L., & Jordan, I. K. (2016) · Briefings in Bioinformatics · doi:10.1093/bib/bbw072 · Cited by 81

Contribution of transposable elements in the plant's genome

Sahebi, M., Hanafi, M. M., van Wijnen, A. J., Rice, D. W., Rafii, M. Y., Azizi, P., Osman, M., Taheri, S., Bakar, M. F. A., Isa, M. N. M., et al. (2018) · Gene · doi:10.1016/j.gene.2018.04.050 · Cited by 81

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 331

The Impact of LINE-1 Retro transposition on the Human Genome

Hulme, A. E., Kulpa, D. A., Garcia-Perez, J. L., & Moran, J. V. (2007) · Humana Press eBooks · doi:10.1007/978-1-59745-039-3_3 · Cited by 10

LINE‐1 Retrotransposition: Impact on Genome Stabilityand Diversity and Human Disease

Prak, N. L., & Haoudi, A. (2006) · BioMed Research International · doi:10.1155/jbb/2006/37049 · Cited by 7

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

Mobile Elements in the Human Genome: Implications for Disease

Chénais, B. (2017) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0024377