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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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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LINE-1 Elements in Structural Variation and Disease

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