ArticleProceedings of the National Academy of Sciences of the United States of America2006
Extensive individual variation in L1 retrotransposition capability contributes to human genetic diversity.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
61 citing papers in PubMed, 107 citations in OpenAlex.
- Article
- Opposing roles of pseudokinases NRBP1 and NRBP2 in regulating L1 retrotransposition.Nature communications · 2025Article
- Pan-cancer multi-omic model of LINE-1 activity reveals locus heterogeneity of retrotransposition efficiency.Nature communications · 2025Article
- Causes and Consequences of Varying Transposable Element Activity: An Evolutionary Perspective.Annual review of genomics and human genetics · 2024Review
- Evolutionary insights from profiling LINE-1 activity at allelic resolution in a single human genome.The EMBO journal · 2024Article
- Review
- Retrotransposon insertions associated with risk of neurologic and psychiatric diseases.EMBO reports · 2023Article
- Intragenic L1 Insertion: One Possibility of Brain Disorder.Life (Basel, Switzerland) · 2022Review
- Somatic retrotransposition in the developing rhesus macaque brain.Genome research · 2022Article
- Patterns of piRNA Regulation in Drosophila Revealed through Transposable Element Clade Inference.Molecular biology and evolution · 2022Article
- Article
- Role of long interspersed nuclear element-1 in the regulation of chromatin landscapes and genome dynamics.Experimental biology and medicine (Maywood, N.J.) · 2021Review
- Genome-wide analysis of European sea bass provides insights into the evolution and functions of single-exon genes.Ecology and evolution · 2021Article
- Measuring and interpreting transposable element expression.Nature reviews. Genetics · 2020Review
- A potential new mechanism for pregnancy loss: considering the role of LINE-1 retrotransposons in early spontaneous miscarriage.Reproductive biology and endocrinology : RB&E · 2020Review
- Comparative Genomics Analysis Reveals High Levels of Differential Retrotransposition among Primates from the Hominidae and the Cercopithecidae Families.Genome biology and evolution · 2019Article
- Pedigree-based estimation of human mobile element retrotransposition rates.Genome research · 2019Article
- Dynamic Methylation of an L1 Transduction Family during Reprogramming and Neurodifferentiation.Molecular and cellular biology · 2019Article
- Novel Discovery of LINE-1 in a Korean Individual by a Target Enrichment Method.Molecules and cells · 2019Article
- The impact of transposable element activity on therapeutically relevant human stem cells.Mobile DNA · 2019Review
1 more citing papers are in PubMed but not listed here.
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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Despite being scarce in the human genome, active L1 retrotransposons continue to play a significant role in its evolution. Because of their recent expansion, many L1s are not fixed in humans, and, when present, their mobilization potential can vary among individuals. Previously, we showed that the great majority of retrotransposition events in humans are caused by highly active, or hot, L1s. Here, in four populations of diverse geographic origins (160 haploid genomes), we investigated the degree of sequence polymorphism of three hot L1s and the extent of individual variation in mobilization capability of their allelic variants. For each locus, we found one previously uncharacterized allele in every three to five genomes, including some with nonsense and insertion/deletion mutations. Single or multiple nucleotide substitutions drastically affected the retrotransposition efficiency of some alleles. One-third of elements were no longer hot, and these so-called cool alleles substantially increased the range of individual susceptibility to retrotransposition events. Adding the activity of the three elements in each individual resulted in a surprising degree of variation in mobilization capability, ranging from 0% to 390% of a reference L1. These data suggest that individual variation in retrotransposition potential makes an important contribution to human genetic diversity.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.