LINE-1 Retrotransposition Activity in Human Genomes

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Retrotransposons and the brain: Exploring a complex relationship between mobile elements, stress, and neurological health

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Identification and Characterization of LINE and SINE Retrotransposons in the African Hedgehog (Atelerix albiventris, Erinaceidae) and Their Association with 3D Genome Organization and Gene Expression

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Unraveling LINE ‐1 retrotransposition in head and neck squamous cell carcinoma

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PIWIL2 downregulation in colon cancer promotes transposon activity and pro-tumorigenic phenotypes

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Revisiting Clonal Evolution Through the Light of Retrotransposons

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MER57E3 transposable elements regulate gene expression in a human cell model of neural development

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Mechanism and Therapeutic Potential of Viral Mimicry in Cancer Immunotherapy

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Clonal evolution and mutational trajectories of metastatic colorectal cancer shaped by anticancer therapies

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Differential DNA Methylation Patterns in Endo-siRNAs Mediated Silencing of LINE-1 Retrotransposons

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Next-Generation and Third-Generation Sequencing of Lung Cancer Biomarkers

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Epigenetic Modulation of Human Neurobiological Disorders

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LINE-1 Retrotransposition Assays in Embryonic Stem Cells

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Retrotransposons in embryogenesis and neurodevelopment

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Human retrotransposons keep it active

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Polymorphic L1 retrotransposons are frequently in strong linkage disequilibrium with neighboring SNPs

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Cellular Control of Endogenous Retroviruses and Retroelements

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Endogenous Retroelements in Cancer: Molecular Roles and Clinical Approach

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Mendelian Disorders of Immunity Related to an Upregulation of Type I Interferon

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Structural variation discovery: the easy, the hard and the ugly

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Tex19.1 Restricts LINE-1 Mobilisation in Mouse Embryonic Stem CellsPreprint

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Transposable Element-Gene Splicing Modulates the Transcriptional Landscape of Human Pluripotent Stem CellsPreprint

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LINE-1 and Alu Promote Breast Tumor Progression Via Forming Chimeric TranscriptsPreprint

Li, J., Zhang, Y., Zhou, Y., Liao, J.-Y., & Guo, Y. (2021) · Research Square · doi:10.21203/rs.3.rs-326833/v1 · Cited by 1

Building an atlas of transposable elements reveals the extensive roles of young SINE in gene regulation, genetic diversity, and complex traits in pigsPreprint

Zhao, P., Gu, L., Gao, Y., Pan, Z., Liu, L., Li, X., Zhou, H., Yu, D., Han, X., LiChun, Q., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.02.07.479475 · Cited by 1

Mouse L1s fade with age: a methylation-enforced mechanism for attenuation of L1 retrotransposition potentialPreprint

Gerdes, P., Chan, D. L.-K., Lundberg, M., Sanchez-Luque, F. J., Bodea, G. O., Ewing, A. D., Faulkner, G. J., & Richardson, S. R. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.08.06.500894 · Cited by 1

L1 retrotransposition is regulated post-transcriptionally In High-Grade Serous Ovarian CancerPreprint

Pradhan, B., Zhang, K., Li, Y., Lavikka, K., Muranen, T., Huhtinen, K., Badge, R. M., Burns, K. H., Hynninen, J., Hietanen, S., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.09.27.509826 · Cited by 1

A Catalogue of Structural Variation across Ancestrally Diverse Asian GenomesPreprint

Bertin, N., Tan, J. H. J., Li, Z., Gonzàlez-Porta, M., Rajaby, R., Jimenez, R., Lim, W. K., Tan, Y. A., Teo, R., Hebrard, M., et al. (2023) · Research Square · doi:10.21203/rs.3.rs-3376868/v1 · Cited by 1

Salivary genetic and epigenetic biomarkers for human papillomavirus driven head and neck cancers

Weeramange, S. C. E. (2022) · Queensland University of Technology · doi:10.5204/thesis.eprints.244241

piRNA Biogenesis and Transposon Silencing in Drosophila: A Dissertation

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Algorithms for structural variation discovery and protein-protein interaction prediction

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Deciphering DNA Sequence Information

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Chromatin remodeling and dna topology in transcription and genome stability

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Retrotransposon mobilization in cancer genomesPreprint

Ballinger, T. J., Ewing, A. D., & Haussler, D. H. (2015) · arXiv (Cornell University) · doi:10.48550/arxiv.1501.04268

Bovine Genome Architecture

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A retrotransposição de mRNAs como fator de variabilidade genética no genoma humano e de outros primatas

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Neuronal Genomic and Epigenetic Diversity

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2013 Curt Stern Award Address

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Examining Selective Pressures Shaping Retrotransposon Distribution Within Genes

Linker, S. B. (2014)

Anomalias genéticas e epigenéticas no tumor embrionário hepatoblastoma

Rodrigues, T. C. (2015) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.41.2015.tde-20052015-084143

Genetic and Epigenetic Determinants of Environmental Injury and Disease

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Mammalian Genome Plasticity: Expression Analysis of Transposable Elements

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Application of autosomal INDELs as a forensic tool in Qatar

Bashir, M. (2016) · CLOK (University of Central Lancashire)

Retrotransposon Contribution to Genomic Plasticity

Doucet-O’Hare, T. T., & Kazazian, H. H. (2017) · Springer eBooks · doi:10.1007/978-3-319-48344-3_3

Measuring CpG Methylation by SMRT Sequencing

Suzuki, Y., Korlach, J., & Morishita, S. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-801596-4.00007-1

Restriction of Retrotransposition and Retroviral Infection by RNase L and APOBEC3G

Zhang, A. (2013) · OhioLink ETD Center (Ohio Library and Information Network)

Passenger or Driver: Can Gene Expression Profiling Tell Us Anything about LINE-1 in Cancer?

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SQuIRE: Software for Quantifying Interspersed Repeat ElementsPreprint

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Consequences of Alu-mediated recombination events

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Retrotransposon-mediated genomic dynamism

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The Human Genome

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Spontaneous retrotranspositions in normal tissues are rare and associated with cell-type-specific differentiationPreprint

Dong, X., Zhang, L., Brazhnik, K., Lee, M., Hao, X., Maslov, A. Y., Zhang, Z., Wang, T., & Vijg, J. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/536896

Restriction Enzyme Based Enriched L1Hs sequencing (REBELseq)Preprint

Reiner, B. C., Doyle, G. A. R., Weller, A. E., Levinson, R. N., Namoglu, E. C., Pigeon, A., Arauco‐Shapiro, G., Perea, E. D., Weickert, C. S., Turecki, G., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/710095

Line-1 Retrotransposition and the Impact on Aging Rodent Skeletal Muscle Tissue

Mumford, P. W. (2019)

L1 is dynamic during neurogenesis

Salvador‐Palomeque, C. (2019) · The University of Queensland · doi:10.14264/uql.2020.75

The role of mobile elements in recent primate genomes

Tang, W. (2020) · Brock University Digital Repository (Brock University)

An in silico model of LINE-1-mediated neoplastic evolution

LeBien, J. G., McCollam, G., & Atallah, J. (2020) · Bioinformatics · doi:10.1093/bioinformatics/btaa279

Bisulfite PCR of repetitive genomic sequences

Dunaeva, M. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-819414-0.00006-9

Precision Medicine Approaches for Stratification and Development of Novel Therapies of Latin(x) Patients at Risk of Lung Malignancy

Ramos, K. S., Guerra, S., & El‐Zein, R. A. (2022) · Springer eBooks · doi:10.1007/978-3-031-14436-3_8

Recent Progress in Understanding the Mechanism and Consequences of Retrotransposon Movement

Garfinkel, D. J., & Purzycka, K. J. (2017) · MDPI eBooks · doi:10.3390/books978-3-03842-541-0

Beneficial Effects of Lactobacillus Zeae on the Gut Health of Piglets Challenged with Enterotoxigenic Escherichia ColiPreprint

Wu, T., Shi, Y., Zhang, Y., Zhang, M., Zhang, L., Ma, Z., Zhao, D., Wang, L., Ding, B., Hou, Y., et al. (2020) · doi:10.21203/rs.3.rs-38949/v1

Virus-host coevolution: Endogenous RNA viral elements as pseudogenes

Tomonaga, K. (2020) · Uirusu · doi:10.2222/jsv.70.49

Epigenetic and transcriptional effects of full-length LINE-1 retrotransposons in human neural progenitor cells

Pandiloski, N. (2021) · Lund University Publications Student Papers (Lund University)

Developing SQuIRE to map the landscape of interspersed repeat expression

Yang, W. R. (2018)

The role of Transposable Elements in the Human Genome and their contribution to Evolution

van Ravesteyn, T. W. (2013) · Utrecht University Repository (Utrecht University)

Development of Novel Tools for Radial Glia Lineage Tracing and Modeling Central Nervous System Tumor

Chen, F. (2014) · OpenCommons at University of Connecticut (University of Connecticut)

The derepression of transposable elements in lung cells is associated with the inflammatory response and gene activation in idiopathic pulmonary fibrosisPreprint

Rostami, M. R., & Bradić, M. (2020) · Research Square · doi:10.21203/rs.3.rs-80034/v1

Redox / methylation signaling

Trivedi, M. S. (2013) · Digital Repository Service (Northeastern University) · doi:10.17760/d20198517

Jumping genes

de Souza, N. (2010) · Nature Methods · doi:10.1038/nmeth0810-579

Faculty Opinions recommendation of Somatic retrotransposition alters the genetic landscape of the human brain.

Robertson, S. P. (2012) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.13368962.15768160

Faculty Opinions recommendation of Haplotype-resolved diverse human genomes and integrated analysis of structural variation.

Tang, F. (2021) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.739619698.793585652

Faculty Opinions recommendation of p53 genes function to restrain mobile elements.

Attardi, L. D. (2017) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.726037451.793537675

sideRETRO: uma ferramenta de bioinformática dedicada à identificação deinserções polimórficas, germinativas ou somáticas, de pseudogenes processados

Miller, T. L. A. (2022) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.46.2022.tde-26082022-132302

IRescue: uncertainty-aware quantification of transposable elements expression at single cell levelPreprint

Polimeni, B., Marasca, F., Ranzani, V., & Bodega, B. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.09.16.508229

Functional characterisation of DHX proteins in the regulation of RNA metabolism and genome stability

Falk, R. R. (2023) · eDiss (Georg-August-Universität Göttingen) · doi:10.53846/goediss-10037

Naturally occurring T-cell-mediated antitumor immune response to LINE-1 antigens in mice that can be enhanced by vaccination and TLR5 agonistPreprint

Leonova, K. I., Gleiberman, A. S., Jaravine, V., Trageser, N. H., Novototskaya-Vlasova, K. A., Antoch, M. P., Kurnasov, O. V., Osterman, A. L., Andrianova, E. L., & Gudkov, A. V. (2023) · Research Square · doi:10.21203/rs.3.rs-3252820/v1

การศึกษาเครือข่ายควบคุมยีนโดยภาวะเหนือพันธุกรรมที่เกี่ยวข้องกับโรคออทิซึมสเปกตรัมด้วยการวิเคราะห์ระดับเมธิเลชันของรีโทรทรานสโพซอนไลน์วัน

ตั้งสุวรรณศรี, ช. (2017) · Chula Digiverse · doi:10.58837/chula.the.2017.823

Young LINE1 reshapes stem cell fate

Zhao, X., & Lü, X. (2023) · Chinese Science Bulletin (Chinese Version) · doi:10.1360/tb-2023-1012

Additional file 1 of Genetic analysis of 55 cases with fetal skeletal dysplasia

Bai, Y., Sun, Y., Liu, N., Wang, L., Jiao, Z., Hou, Y., Duan, H., Li, Q., Zhu, X., Meng, J., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21532576

Evaluation of Integrated SARS-CoV-2 Genome Presence in PBMC, Oropharyngeal, and Nasopharyngeal Samples of COVID-19 Patients

Khanaliha, K., Donyavi, T., Monavari, S. H., Khatami, A., Nahand, J. S., Kiani, S. J., Tavakoli, A., Ramshyny, M., & Bokharaei‐Salim, F. (2024) · Jundishapur Journal of Microbiology · doi:10.5812/jjm-145397

Bi-directional Transcription, Double-Stranded RNA and the Implications on Genome Evolution

Al-Hashimi, S., Sadeq, S., & Werner, A. (2024) · Springer eBooks · doi:10.1007/978-3-031-59286-7_4

Mapping of long interspersed element-1 (L1) insertions by TIPseq provides information about sub chromosomal genetic variation in human embryos

Kohlrausch, F. B., Wang, F., McKerrow, W., Grivainis, M., Fenyo, D., & Keefe, D. L. (2024) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-024-03176-9

Northern blotting of endogenous full-length human-specific LINE-1 RNA

Alkailani, M. I. (2024) · Biology Methods and Protocols · doi:10.1093/biomethods/bpae036

Accelerated genome shuffling associated with rapid evolution of sexual conflict in seed beetlesPreprint

Chen, W., Zhao, J., Lin, M., Liu, C., Xie, L., Wang, L., Zhang, X., Liao, Y., & Chen, J. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.02.24.639998

Deregulation of L1 retrotransposon-encoded protein expression in oral cancer recurrencePreprint

Kundu, S., Ganguly, M., Mukherjee, K., Sarkar, G., Usmani, S. A., Dhingra, V., Durgapal, P., Tyagi, A. K., Goodier, J. L., & Mandal, P. K. (2025) · Research Square · doi:10.21203/rs.3.rs-6319447/v1

MORC2 directs transcription-dependent CpG methylation of human LINE-1 transposons in early neurodevelopmentPreprint

Dorazehi, F., Francesconi, C., Pandiloski, N., Castilla‐Vallmanya, L., Albecka, A., Koutounidou, S., Mohan, S. B., Adami, A., Katsikas, A., Matijević, J., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.06.11.658943

Methylation of LINE-1 Retroelement in People with Type 1 Diabetes

Katsanou, A., Kostoulas, C., Liberopoulos, E. N., Tsatsoulis, A. A., Georgiou, I. A., & Tigas, S. K. (2025) · Genes · doi:10.3390/genes16070759 · Cited by 1

Pan-cancer analysis reveals context-dependent roles of LINE-1 ORF1p in immune regulation and copy number alterationsPreprint

Kaparos, E. I., Zhang, W., Miyanaga, R., McKerrow, W., Boeke, J. D., Davoli, T., Mita, P., Ruggles, K. V., & Fenyö, D. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.10.03.680361 · Cited by 1

Image-based DNA sequencing encoding for detecting low-mosaicism somatic mobile element insertions

Tan, M., Lin, Z., Chen, Z., Zhou, H., Park, J., He, Z., Lee, E. A., Gao, Z., & Zhu, X. (2025) · Nature Communications · doi:10.1038/s41467-025-64237-w

Direct identification of de novo mobile element insertions from single molecule sequencing of human spermPreprint

Li, S., Gozashti, L., Connelly, C., Goubert, C., Aston, K., Gleeson, J. G., Quinlan, A. R., Yang, X., & Sudmant, P. H. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.10.25.684559 · Cited by 1

In vitro fertilization–conceived offspring exhibit altered Long Interspersed Nuclear Elements-1 retrotransposition dynamics associated with long-term disease risks

Li, J., Huang, J., Zhang, Z., Xian, J., Liu, Y., Zhang, Q., Chen, H., Guo, Y., & Li, Y. (2026) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2026.05.005

Transposable Elements and Gene Duplication

Makałowska, I., & Ryczek, N. (2025) · Epigenetics and human health · doi:10.1007/978-3-032-04125-8_2

Transposable elements in aging: From biomarkers to effectors

Fuentes-Iglesias, A., García-Vílchez, R., & Guallar, D. (2025) · Advances in genetics · doi:10.1016/bs.adgen.2025.11.001

Retrotransposons as both “architects” and “saboteurs” in the nervous system

Izquierdo‐Useros, N., Dierssen, M., Clotet, B., Elizalde‐Torrent, A., & Carriba, P. (2025) · Advances in genetics · doi:10.1016/bs.adgen.2025.11.002 · Cited by 2

Transposable elements in human cancer: Regulation, activation, and genomic consequences

Diaz-Portal, L., Sotelo-Fonseca, J. E., & Rodriguez-Martin, B. (2025) · Advances in genetics · doi:10.1016/bs.adgen.2025.11.004 · Cited by 1

Additional file 5 of Exploratory analysis of L1 retrotransposons expression in autism

Spirito, G., Filosi, M., Domenici, E., Mangoni, D., Gustincich, S., & Sanges, R. (2024) · Figshare · doi:10.6084/m9.figshare.26600515

Additional file 1 of Early maternal care restores LINE-1 methylation and enhances neurodevelopment in preterm infants

Fontana, C., Marasca, F., Provitera, L., Mancinelli, S., Pesenti, N., Sinha, S., Passera, S., Abrignani, S., Mosca, F., Lodato, S., et al. (2021) · Figshare · doi:10.6084/m9.figshare.13719589

Additional file 1 of Frequency and methylation status of selected retrotransposition competent L1 loci in amyotrophic lateral sclerosis

Savage, A. L., Lopez, A. I., Iacoangeli, A., Bubb, V. J., Smith, B. N., Troakes, C., Alahmady, N., Koks, S., Schumann, G. G., Al‐Chalabi, A., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13237698

Additional file 2 of Early maternal care restores LINE-1 methylation and enhances neurodevelopment in preterm infants

Fontana, C., Marasca, F., Provitera, L., Mancinelli, S., Pesenti, N., Sinha, S., Passera, S., Abrignani, S., Mosca, F., Lodato, S., et al. (2021) · Figshare · doi:10.6084/m9.figshare.13719592

LINE-1 Retrotransposition in Human Genomic Variation.

Beck, C. R. (2012) · Deep Blue (University of Michigan)

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

The role of L1 retrotransposition in human genomic variability

Ewing, A. D. (2010) · Scholarly Commons (University of Pennsylvania)

Active *L1 elements in the human genome

Brouha, B. (2003) · Scholarly Commons (University of Pennsylvania)

Pangenome reference assemblies reveal the variation and recent activity of human LINE-1 retrotransposonsPreprint

Yang, L., Nematbakhsh, S., Norseen, A., & McLaughlin, R. N. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.05.14.725010