Cited by 645Chromosomal and Genetic VariationsGenomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

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LINE-1 Elements in Structural Variation and Disease

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Beck, Christine R., Garcia-Perez, José Luis, Badge, Richard M., Moran, John V.·2011·Annual Review of Genomics and Human Genetics

DOI 10.1146/annurev-genom-082509-141802PMC PMC4124830

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Abstract

The completion of the human genome reference sequence ushered in a new era for the study and discovery of human transposable elements. It now is undeniable that transposable elements, historically dismissed as junk DNA, have had an instrumental role in sculpting the structure and function of our genomes. In particular, long interspersed element-1 (LINE-1 or L1) and short interspersed elements (SINEs) continue to affect our genome, and their movement can lead to sporadic cases of disease. Here, we briefly review the types of transposable elements present in the human genome and their mechanisms of mobility. We next highlight how advances in DNA sequencing and genomic technologies have enabled the discovery of novel retrotransposons in individual genomes. Finally, we discuss how L1-mediated retrotransposition events impact human genomes.

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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 4,377
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

Show all 265 references

Research works printed but not linked: 2

Asch HL, 1996, Oncol. Res., 8, 239
Miki Y, 1992, Cancer Res, 52, 643

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PIWIL2 downregulation in colon cancer promotes transposon activity and pro-tumorigenic phenotypes
Risner, A., Nair-Menon, J. U., Cheedipudi, A. R., Delaney, J. R., Gangaraju, V. K., & Kourtidis, A. (2025) · Biology Open · doi:10.1242/bio.061942 · Cited by 1
Decoding genomic rearrangements for cancer driver discovery
Seo, E., Park, S., Park, I., & Bhin, J. (2025) · Molecules and Cells · doi:10.1016/j.mocell.2025.100272 · Cited by 1
Dynamic dosage changes in X-linked transposable elements during mammalian dosage compensation
Wei, C., Kesner, B., Weissbein, U., Wasserzug‐Pash, P., Das, P., & Lee, J. T. (2025) · Nature Communications · doi:10.1038/s41467-025-64865-2 · Cited by 1
Transposable Elements and Genome Evolution in Vertebrates
Fard, V. N., & Tollis, M. (2025) · Epigenetics and human health · doi:10.1007/978-3-032-04125-8_1 · Cited by 1
DNA repeats: origins, conservation, and role in human disease
Rana, A. K. (2026) · Genome Instability & Disease · doi:10.1007/s42764-025-00174-8 · Cited by 1
Piecing together the puzzles: Aryl hydrocarbon receptor-mediated genetic and epigenetic signatures in dioxin-induced carcinogenicity- A systematic review and meta-analysis
Hefnawy Ahmad, A., Mohamed, S., Alkhaldi, M. Y., Asiri, H., Ali, A. M., Shaher, F. A., Al-Shahrani, M. S., Al-qarni, M. A., & El-Hawary, H. M. (2026) · Toxicology Letters · doi:10.1016/j.toxlet.2026.111827 · Cited by 1
CDK9 Inhibition with enitociclib reveals influence on HERV and LINE RNA abundances in whole blood, T-, and B-Cell lines
Dopkins, N., Michael, S., Liotta, N., Roldan, F. S., & Nixon, D. F. (2026) · BMC Medical Genomics · doi:10.1186/s12920-026-02309-6 · Cited by 1
BMI1 represses G-quadruplex DNA formation to maintain genomic stability during replication
Hanna, R., Deneault, É., & Bernier, G. (2026) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2026.111172 · Cited by 1
RNA-templated diversity generation via reverse transcription and homologous recombination: an evolutionary hypothesis
Mariani, M. G. E. (2026) · Theory in Biosciences · doi:10.1007/s12064-026-00469-8 · Cited by 1
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[The connection between LINE-1 retrotransposition and human tumorigenesis].
Liu, Q., Wang, J., Li, X., & Cen, S. (2016) · PubMed · doi:10.16288/j.yczz.15-470 · Cited by 1
Retrotransposons and the Mammalian Germline
Adams, I. R. (2017) · Springer eBooks · doi:10.1007/978-3-319-48344-3_1 · Cited by 1
Somatic mosaicism in inherited bone marrow failure and chromosomal instability syndrome
Biswas, P., & Verma, R. S. (2021) · Genome Instability & Disease · doi:10.1007/s42764-021-00041-2 · Cited by 1
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Aljahdali, A., Goodrich, J. M., Dolinoy, D. C., Kim, H. M., Ruiz-Narváez, E., Baylín, A., Cantoral, A., Torres-Olascoaga, L. A., Téllez‐Rojo, M. M., & Peterson, K. E. (2023) · Epigenomes · doi:10.3390/epigenomes7010004 · Cited by 1
A Unifying Hypothesis for the Genome Dynamics Proposed to Underlie Neuropsychiatric Phenotypes
Gericke, G. S. (2024) · Genes · doi:10.3390/genes15040471 · Cited by 1
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Yone, H., Kawashima, Y., Hirai, H., Oda, A., Sato, M., Kono, H., & Ohta, K. (2025) · Nucleic Acids Research · doi:10.1093/nar/gkaf206 · Cited by 1
Transposon expression and repression in skeletal muscle
Borok, M. J., Zaidan, L. R., & Relaix, F. (2025) · Mobile DNA · doi:10.1186/s13100-025-00352-1 · Cited by 1
Ocular Characteristics and Genotype-Oriented Disease Spectrum of Alström Syndrome in Taiwan
Cheng, C.-C., Lin, C., Ko, T.-C., Huang, Y.-S., Huang, C.-H., Yang, C., Ho, T., Chen, P.-L., & Chen, T. (2025) · Translational Vision Science & Technology · doi:10.1167/tvst.14.6.22 · Cited by 1
Stress out the LINEs
Hu, S., Liang, C., & Guo, F. (2015) · Mobile Genetic Elements · doi:10.1080/2159256x.2015.1133267 · Cited by 1
Primate specific retrotransposons, SVAs, in the evolution of networks that alter brain functionPreprint
Vasieva, O., Cetiner, S., Savage, A. L., Schumann, G. G., Bubb, V. J., & Quinn, J. P. (2016) · arXiv (Cornell University) · doi:10.48550/arxiv.1602.07642 · Cited by 1
Exploiting Public Human Genome NGS Datasets to Characterize Repetitive DNA and Recover Assembly Gaps
Ogeh, D. N. (2018) · Figshare · Cited by 1
Repetitive DNA Sequences
Clark, A. G., Barbash, D. A., Lower, S. E., & Dion-Coté, A.-M. (2020) · MDPI eBooks · doi:10.3390/books978-3-03928-367-5 · Cited by 1
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Shah, K., & Berkyurek, A. C. (2022) · Preprints.org · doi:10.20944/preprints202205.0117.v1 · Cited by 1
Line
Schumann, G. G. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-374984-0.00869-x · Cited by 1

Authors: Beck, C. R., Garcia-Perez, J. L., Badge, R. M., & Moran, J. V.
Affiliations: University of Michigan (US)
Andalusian Stem Cell Bank, Center for Biomedical Research, University of Granada, Armilla, Granada 18100, Spain
University of Leicester (GB)
Howard Hughes Medical Institute (US)
ORCID: Beck, Christine R.
Badge, Richard M.
Moran, John V.
Venue: Annual Review of Genomics and Human Genetics
Publisher: Annual Reviews
Published: 2011-09-22
Volume: 12
Issue: 1
Pages: 187-215
ISSN: 1527-8204 (ISSN-L)
1545-293X
DOI: 10.1146/annurev-genom-082509-141802
PMC: PMC4124830
OpenAlex: W2114924552
Cited by: 615
References: 265
Citations by year: 2026: 49 · 2025: 52 · 2024: 34 · 2023: 35 · 2022: 35 · 2021: 47 · 2020: 39 · 2019: 44 · 2018: 45 · 2017: 55 · 2016: 48 · 2015: 44 · 2014: 27 · 2013: 36 · 2012: 20
FWCI: 2.88
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Annual Review of Genomics and Human Genetics (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Leicester Research Archive (University of Leicester) (submittedVersion)
Funders: Howard Hughes Medical Institute
Wellcome Trust (075163)
U.S. Public Health Service (T32000040)
National Human Genome Research Institute (T32HG000040)
National Institute of General Medical Sciences (GM082970, T32GM7544, T32GM007544, R01GM082970, GM060518, R01GM060518)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › 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, long interspersed element-1, retrotransposons, transposable elements, structural variants, retrotransposition, SINEs, human genome evolution
MeSH terms: Disease, Humans, Genetic Variation, Genome, Human, Retroelements, Long Interspersed Nucleotide Elements

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