Retrotransposition and structural variation in the human genome
Open accessAbstract
New assays are revealing that the diploid human genome contains extensive amounts of structural variation. Genome-wide approaches described in three papers in this issue (Beck et al., 2010; Huang et al., 2010; Iskow et al., 2010) paint a dynamic portrait of our genome, revealing a prominent role for repetitive sequences in shaping its structural variation.
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Both germline and somatic L1 activity make substantial contributions to structural variation in human genomes.
“Both germline and somatic L1 activity contribute significantly to structural variation in human genomes (Lupski, 2010).”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Lupski, 2010
Cites
Versalovic, J. A., Koeuth, T., & Lupski, R. L. (1991) · Nucleic Acids Research · doi:10.1093/nar/19.24.6823 · Cited by 3,249 · see citing works
Origins and functional impact of copy number variation in the human genome
The Wellcome Trust Case Control Consortium, Conrad, D. F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T. D., Barnes, C., et al. (2010) · Nature · doi:10.1038/nature08516 · Cited by 1,970 · see citing works
Mechanisms of change in gene copy number
Hastings, P. J., Lupski, J. R., Rosenberg, S. M., & Ira, G. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2593 · Cited by 1,316 · see citing works
Self-citationWhole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
Lupski, J. R., Reid, J. G., Gonzaga-Jauregui, C., Rio Deiros, D., Chen, D. C. Y., Nazareth, L., Bainbridge, M., Dinh, H., Jing, C., Wheeler, D. A., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa0908094 · Cited by 759 · see citing works
Self-citationEwing, A. D., & Kazazian, H. H. (2010) · Genome Research · doi:10.1101/gr.106419.110 · Cited by 301 · see citing works
Complex human chromosomal and genomic rearrangements
Zhang, F., Carvalho, C. M. B., & Lupski, J. R. (2009) · Trends in Genetics · doi:10.1016/j.tig.2009.05.005 · Cited by 267 · see citing works
Self-citationA human dimorphism resulting from loss of an Alu
Edwards, M. C., & Gibbs, R. A. (1992) · Genomics · doi:10.1016/s0888-7543(05)80156-9 · Cited by 66 · see citing works
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CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
Malhotra, D., & Sebat, J. (2012) · Cell · doi:10.1016/j.cell.2012.02.039 · Cited by 854 · see citing works
Long interspersed nuclear element-1 hypomethylation in cancer: biology and clinical applications
Kitkumthorn, N., & Mutirangura, A. (2011) · Clinical Epigenetics · doi:10.1007/s13148-011-0032-8 · Cited by 142 · see citing works
- Authors
- Lupski, J. R.
- Affiliations
- Baylor College of Medicine (US)
- Corresponding author
- Lupski, James R.
- ORCID
- Lupski, James R.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2010-06
- Volume
- 141
- Issue
- 7
- Pages
- 1110-1112
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W1967352352
- Cited by
- 44
- References
- 7
- Citations by year
- 2025: 1 · 2020: 1 · 2019: 1 · 2018: 2 · 2017: 1 · 2016: 4 · 2015: 3 · 2014: 3 · 2013: 5 · 2012: 8
- FWCI
- 5.05
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Keywords
- retrotransposition, structural variants, human genome, repetitive DNA, transposable elements, genome dynamics, diploid genome
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