{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1363670319923419264.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1146/annurev-genom-082509-141802"}},{"identifier":{"@type":"URI","@value":"https://www.annualreviews.org/doi/pdf/10.1146/annurev-genom-082509-141802"}}],"dc:title":[{"@value":"LINE-1 Elements in Structural Variation and Disease"}],"description":[{"type":"abstract","notation":[{"@value":"<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>"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1383670319923419266","@type":"Researcher","foaf:name":[{"@value":"Christine R. Beck"}],"jpcoar:affiliationName":[{"@value":"Department of Human Genetics,"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670319923419264","@type":"Researcher","foaf:name":[{"@value":"José Luis Garcia-Perez"}],"jpcoar:affiliationName":[{"@value":"Andalusian Stem Cell Bank, Center for Biomedical Research, University of Granada, Armilla, Granada 18100, Spain"},{"@value":"Department of Human DNA Variability, GENYO (Pfizer–University of Granada–Andalusian Government Center for Genomics and Oncology), Granada 18007, Spain"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670319923419265","@type":"Researcher","foaf:name":[{"@value":"Richard M. Badge"}],"jpcoar:affiliationName":[{"@value":"Department of Genetics, University of Leicester, Leicester LE1 7RH, United Kingdom"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670319923419267","@type":"Researcher","foaf:name":[{"@value":"John V. Moran"}],"jpcoar:affiliationName":[{"@value":"Department of Human Genetics,"},{"@value":"Department of Internal Medicine, and"},{"@value":"Howard Hughes Medical Institute, University of Michigan Medical School, Ann Arbor, Michigan 48109-5618;,"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"15278204"},{"@type":"EISSN","@value":"1545293X"}],"prism:publicationName":[{"@value":"Annual Review of Genomics and Human Genetics"}],"dc:publisher":[{"@value":"Annual Reviews"}],"prism:publicationDate":"2011-09-22","prism:volume":"12","prism:number":"1","prism:startingPage":"187","prism:endingPage":"215"},"reviewed":"false","url":[{"@id":"https://www.annualreviews.org/doi/pdf/10.1146/annurev-genom-082509-141802"}],"createdAt":"2011-03-02","modifiedAt":"2021-10-12","relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1050001335841109504","@type":"Article","resourceType":"学術雑誌論文(journal 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