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LINE-1 Elements in Structural Variation and Disease
Open accessAbstract
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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“New retrotransposon insertions probably account for the majority of smaller events, with short (300 basepairs) Alu repeat insertions occurring at a rate of 0.05 per generation (Cordaux and Batzer, 2009) and longer (1000–9000 bp) L1 insertions occurring at a rate of 0.01–0.05. per generation (Beck et al., 2011).”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Beck et al., 2011
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Metadata
- 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)
- 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
- 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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