ArticleGenome research2010
High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes.
Article in Genome research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 197 papers, 1 of them a synthesis that pooled it.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
197 citing papers in PubMed, 1 synthesis or guideline pooled it, 315 citations in OpenAlex.
- Heritable L1 Retrotransposition Events During Development: Understanding Their Origins: Examination of heritable, endogenous L1 retrotransposition in mice opens up exciting new questions and research directions.BioEssays : news and reviews in molecular, cellular and developmental biology · 2018Pooled it
- LINE-1 Retrotransposons and Amyotrophic Lateral Sclerosis.International journal of molecular sciences · 2026Review
- Pangenome reference assemblies reveal the variation and recent activity of human LINE-1 retrotransposons.bioRxiv : the preprint server for biology · 2026Article
- Loss of SETDB1-mediated H3K9me3 in human neural progenitor cells leads to transcriptional activation of L1 retrotransposons.Nucleic acids research · 2026Article
- Jumping in the human brain: A review on somatic transposition.Fundamental research · 2026Review
- ATRX: From Chromatin Remodeling to Disease.Genesis (New York, N.Y. : 2000) · 2025Review
- LINE-1 retrotransposons mediate cis-acting transcriptional control in human pluripotent stem cells and regulate early brain development.Cell genomics · 2025Article
- Hypomethylating agents increase L1 retroelement expression without inducing novel insertions in myeloid malignancies.Molecular oncology · 2025Article
- Transposable elements as instructors of the immune system.Nature reviews. Immunology · 2025Review
- LINE1 insertion into the NACC2 locus disrupts the HDM2 axis and activates lung oncogenic signaling.NPJ precision oncology · 2025Article
- Article
- Retrotransposon: an insight into neurological disorders from perspectives of neurodevelopment and aging.Translational neurodegeneration · 2025Review
- Detecting transposable elements in long-read genomes using sTELLeR.Bioinformatics (Oxford, England) · 2024Article
- Mapping of long interspersed element-1 (L1) insertions by TIPseq provides information about sub chromosomal genetic variation in human embryos.Journal of assisted reproduction and genetics · 2024Article
- LINE-1 mRNA 3' end dynamics shape its biology and retrotransposition potential.Nucleic acids research · 2024Article
- Locus-level L1 DNA methylation profiling reveals the epigenetic and transcriptional interplay between L1s and their integration sites.Cell genomics · 2024Article
- Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.European journal of human genetics : EJHG · 2024Article
- Evolutionary insights from profiling LINE-1 activity at allelic resolution in a single human genome.The EMBO journal · 2024Article
- LINE-1 retrotransposons drive human neuronal transcriptome complexity and functional diversification.Science advances · 2023Article
- Review
137 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on byJumping genes.2010
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Using high-throughput sequencing, we devised a technique to determine the insertion sites of virtually all members of the human-specific L1 retrotransposon family in any human genome. Using diagnostic nucleotides, we were able to locate the approximately 800 L1Hs copies corresponding specifically to the pre-Ta, Ta-0, and Ta-1 L1Hs subfamilies, with over 90% of sequenced reads corresponding to human-specific elements. We find that any two individual genomes differ at an average of 285 sites with respect to L1 insertion presence or absence. In total, we assayed 25 individuals, 15 of which are unrelated, at 1139 sites, including 772 shared with the reference genome and 367 nonreference L1 insertions. We show that L1Hs profiles recapitulate genetic ancestry, and determine the chromosomal distribution of these elements. Using these data, we estimate that the rate of L1 retrotransposition in humans is between 1/95 and 1/270 births, and the number of dimorphic L1 elements in the human population with gene frequencies greater than 0.05 is between 3000 and 10,000.
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Registered trials
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.