LINE-1 Retrotransposition Activity in Human Genomes
By C. Beck, Pam Collier, Catriona Macfarlane, Maika Malig, J. Kidd, Evan E. Eichler, Richard Badge, J. V. Moran. Cell, 2010
618 citations recorded by the source corpus.
Summary Long Interspersed Element-1 (LINE-1 or L1) sequences comprise the bulk of retrotransposition activity in the human genome; however, the abundance of highly active or ‘hot’ L1s in the human population remains largely unexplored. Here, we used a fosmid-based, paired-end DNA sequencing strategy to identify 68 full-length L1s which are differentially present among individuals but are absent from the human genome reference sequence. The majority of these L1s were highly active in a cultured cell retrotransposition assay. Genotyping 26 elements revealed that two L1s are only found in Africa and that two more are absent from the H952 subset of the Human Genome Diversity Panel. Therefore, these results suggest that ‘hot’ L1s are more abundant in the human population than previously appreciated, and that ongoing L1 retrotransposition continues to be a major source of inter-individual genetic variation.
Subfields: Molecular Biology, Plant Science
View Paper: https://www.semanticscholar.org/paper/67ee6ac6542db4f561b8ca3111a1b988d0d18f4a
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In Molecular Biology
- Evan E. Eichler
- Oliver Stegle
- Gad Getz
- Mark Gerstein
- Matthew Meyerson
- John S. Mattick
- Jana Ebler
- Ira M. Hall
In Plant Science
Citations in the corpus
- Advances in understanding cancer genomes through second-generation sequencing (2010, background): “Other novel types of alterations in cancer may include rearrangements of repetitive elements, and recent studies have suggested that active retrotransposons in the human genome might contribute to cancer, so whole-genome sequencing would be informative in this regar”
- Haplotype-resolved diverse human genomes and integrated analysis of structural variation (2021, background): “Of these sequences, 23% show evidence of activity because they are part of a database of 198 FL-L1s that are active in vitro (31, 32), in human populations (33), and in cancers (34–36).”
- Somatic retrotransposition alters the genetic landscape of the human brain (2011, background): “Several recent studies have catalogued retrotransposon insertions in the human germ line and tumors 6,16,23-24 .”