Mobile elements and mammalian genome evolution
Abstract
Mobile elements make up large portions of most eukaryotic genomes. They create genetic instability, not only through insertional mutation but also by contributing recombination substrates, both during and long after their insertion. The combination of whole-genome sequences and the development of innovative new assays to test the function of mobile elements have increased our understanding of how these elements mobilize and how their insertion impacts genome diversity and human disease.
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HERV homology can directly contribute to genomic rearrangements.
“and HERV homology can directly contribute to genomic rearrangements 20.”
From Are human endogenous retroviruses pathogenic? An approach to testing the hypothesis (2013) · cites this paper as [20]
Cites
Human L1 element target‐primed reverse transcription in vitro
Cost, G. J., Feng, Q., Jacquier, A., & Boeke, J. D. (2002) · The EMBO Journal · doi:10.1093/emboj/cdf592 · Cited by 519 · see citing works
Molecular archeology of L1 insertions in the human genome
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“Although the relatively high incidence of these unusual rearrangements may reflect the cellular milieu of the transformed cells used for these studies, molecular and bioinformatic studies have identified rare deletion events associated with L1 and Alu insertions in humans [35–38].”
BackgroundEvidence consistent with human L1 retrotransposition in maternal meiosis I
Brouha, B., Meischl, C., Ostertag, E., de Boer, M., Zhang, Y., Neijens, H., Roos, D., & Kazazian, H. H. (2002) · The American Journal of Human Genetics · doi:10.1086/341722 · Cited by 122 · see citing works
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Ten things you should know about transposable elements
Bourque, G., Burns, K. H., Gehring, M., Gorbunova, V., Seluanov, A., Hammell, M., Imbeault, M., Izsvák, Z., Levin, H. L., Macfarlan, T. S., et al. (2018) · Genome Biology · doi:10.1186/s13059-018-1577-z · Cited by 1,430 · see citing works
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
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Somatic expression of LINE-1 elements in human tissues
Belancio, V. P., Roy-Engel, A. M., Pochampally, R. R., & Deininger, P. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq132 · Cited by 238 · see citing works
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Self-citationAre human endogenous retroviruses pathogenic? An approach to testing the hypothesis
Young, G. R., Stoye, J. P., & Kassiotis, G. (2013) · BioEssays · doi:10.1002/bies.201300049 · Cited by 78 · see citing works
“contribute to genomic rearrangements [20].”
- Authors
- Deininger, P. L., Moran, J. V., Batzer, M. A., & Kazazian, H. H.
- Affiliations
- Tulane University (US)
- University of Michigan (US)
- Louisiana State University (US)
- University of Pennsylvania (US)
- Corresponding author
- Deininger, Prescott L
- Moran, John V
- Batzer, Mark A
- Kazazian, Haig H
- Venue
- Current Opinion in Genetics & Development
- Publisher
- Elsevier BV
- Published
- 2003-12
- Volume
- 13
- Issue
- 6
- Pages
- 651-658
- ISSN
- 0959-437X (ISSN-L)
- OpenAlex
- W2114161855
- Cited by
- 479
- References
- 3
- Citations by year
- 2026: 4 · 2025: 3 · 2024: 15 · 2023: 7 · 2022: 13 · 2021: 13 · 2020: 15 · 2019: 25 · 2018: 23 · 2017: 27 · 2016: 19 · 2015: 22 · 2014: 16 · 2013: 29 · 2012: 22
- FWCI
- 3.25
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Current Opinion in Genetics & Development (publishedVersion)
- PubMed (publishedVersion)
- Civil War Book Review (submittedVersion)
- Funders
- National Institute of General Medical Sciences (R01 GM45398, R01GM045398, R01GM45668, R01GM059290, R01 GM 60518, R01 GM59290, R01GM060518, R01GM045668)
- Topics
- Life Sciences › Agricultural and Biological Sciences › Plant Science › 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
- transposable elements, mammalian genome evolution, insertional mutagenesis, genomic instability, genomic diversity, human disease, transposon mobility
- MeSH terms
- Animals, Eukaryotic Cells, Humans, Mammals, Genetic Variation, Genome, Sequence Analysis, DNA, Retroelements, Evolution, Molecular, Interspersed Repetitive Sequences, Genomic Instability
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