{"doi":"10.1146/annurev-genom-082509-141802","title":"LINE-1 Elements in Structural Variation and Disease","abstract":"<jats:p> 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. </jats:p>","journal":"Annual Review of Genomics and Human Genetics","year":2011,"id":32729,"datarank":10.02461773596939,"base_score":6.432940092739179,"endowment":6.432940092739179,"self_citation_contribution":0.964941013910877,"citation_network_contribution":9.059676722058512,"self_endowment_contribution":0.964941013910877,"citer_contribution":9.059676722058512,"corpus_percentile":null,"corpus_rank":null,"citation_count":621,"citer_count":200,"citers_with_citation_signal":200,"citers_with_endowment":200,"datacite_reuse_total":18,"is_dataset":false,"is_dataset_confidence":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":172705,"name":"José Luis Garcia-Perez","orcid":null,"position":1,"is_corresponding":false},{"id":172706,"name":"Richard M. Badge","orcid":null,"position":2,"is_corresponding":false},{"id":172707,"name":"John V. Moran","orcid":null,"position":3,"is_corresponding":false},{"id":19742,"name":"Christine R. Beck","orcid":"0000-0001-7821-8489","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":6.432940092739179,"endowment":6.432940092739179,"datacite_reuse_total":18,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"21801021","pmcid":"PMC4124830","openalex_id":"https://openalex.org/W2114924552","authors":[],"funders":[{"funder_name":"NIGMS NIH HHS","grant_id":"R01 GM060518","title":null},{"funder_name":"PHS HHS","grant_id":"T32000040","title":null},{"funder_name":"NIGMS NIH HHS","grant_id":"GM060518","title":null},{"funder_name":"NIGMS NIH HHS","grant_id":"T32 GM007544","title":null},{"funder_name":"Wellcome Trust","grant_id":"075163/Z/04/Z","title":null},{"funder_name":"NIGMS NIH HHS","grant_id":"R01 GM082970","title":null},{"funder_name":"NHGRI NIH HHS","grant_id":"T32 HG000040","title":null},{"funder_name":"NIGMS NIH 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Trust","grant_id":"","title":null}],"total_grants":13,"fwci":35.9914,"citation_percentile":0.99837903,"influential_citations":26,"citation_trend":[{"year":2012,"count":20},{"year":2013,"count":35},{"year":2014,"count":28},{"year":2015,"count":44},{"year":2016,"count":48},{"year":2017,"count":54},{"year":2018,"count":43},{"year":2019,"count":46},{"year":2020,"count":42},{"year":2021,"count":53},{"year":2022,"count":40},{"year":2023,"count":41},{"year":2024,"count":38},{"year":2025,"count":57},{"year":2026,"count":27}],"oa_status":"closed","license":null,"oa_locations":[{"url":"https://europepmc.org/articles/pmc4124830?pdf=render","host_type":"GREEN"},{"url":"https://www.annualreviews.org/doi/pdf/10.1146/annurev-genom-082509-141802","host_type":"publisher"},{"url":"https://doi.org/10.1146/annurev-genom-082509-141802","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/21801021","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4124830","host_type":"repository"},{"url":"http://hdl.handle.net/2381/22064","host_type":"repository"}],"fields_of_study":["Chromosomal and Genetic Variations","CRISPR and Genetic Engineering","RNA and protein synthesis mechanisms","Biology","Medicine","Disease","Genetic Variation","Genome, Human","Humans","Long Interspersed Nucleotide Elements","Retroelements"],"mesh_terms":["Disease","Humans","Genetic Variation","Genome, Human","Retroelements","Long Interspersed Nucleotide Elements"],"keywords":["Retrotransposon","Transposable element","Genome","Human genome","Biology","Interspersed repeat","Structural variation","Computational biology","Evolutionary biology","Genetics","Genomics","Genome evolution","Alu element","DNA sequencing","DNA","Gene"],"sdg_mappings":[],"linked_datasets":[{"doi":"10.6084/m9.figshare.13237698.v1","title":"Additional file 1 of Frequency and methylation status of selected retrotransposition competent L1 loci in amyotrophic lateral sclerosis","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.13237698","title":"Additional file 1 of Frequency and methylation 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