ArticleGenetics2004
Natural genetic variation caused by transposable elements in humans.
Article in Genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 96 papers.
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Who cites it
96 citing papers in PubMed.
- Evidence of emerging transcriptome mediators of Alzheimer's disease in canine cognitive dysfunction.Brain pathology (Zurich, Switzerland) · 2026Article
- Comparative Genomics of Fungi in Nectriaceae Reveals Their Environmental Adaptation and Conservation Strategies.Journal of fungi (Basel, Switzerland) · 2024Article
- Review
- Integrating whole-genome sequencing with multi-omic data reveals the impact of structural variants on gene regulation in the human brain.Nature neuroscience · 2022Article
- AnNAR genomics and bioinformatics · 2022Article
- Transposable elements that have recently been mobile in the human genome.BMC genomics · 2021Article
- Complex Transposon Insertion as a Novel Cause of Pompe Disease.International journal of molecular sciences · 2021Article
- Gene family amplification facilitates adaptation in freshwater unionid bivalve Megalonaias nervosa.Molecular ecology · 2021Article
- Haplotypic Associations and Differentiation of MHC Class II Polymorphic Alu Insertions at Five Loci With HLA-DRB1 Alleles in 12 Minority Ethnic Populations in China.Frontiers in genetics · 2021Article
- A SINE-VNTR-International journal of molecular sciences · 2020Article
- Insertion of Telomeric Repeats in the Human and Horse Genomes: An Evolutionary Perspective.International journal of molecular sciences · 2020Article
- The Role of SINE-VNTR-Alu (SVA) Retrotransposons in Shaping the Human Genome.International journal of molecular sciences · 2019Article
- Identification of an active miniature inverted-repeat transposable element mJing in rice.The Plant journal : for cell and molecular biology · 2019Article
- Retrotransposons in the development and progression of amyotrophic lateral sclerosis.Journal of neurology, neurosurgery, and psychiatry · 2019Review
- The impact of transposable element activity on therapeutically relevant human stem cells.Mobile DNA · 2019Review
- The Role of Transposable Elements in Speciation.Genes · 2018Review
- To ERV Is Human: A Phenotype-Wide Scan Linking Polymorphic Human Endogenous Retrovirus-K Insertions to Complex Phenotypes.Frontiers in genetics · 2018Article
- Integrating networks and comparative genomics reveals retroelement proliferation dynamics in hominid genomes.Science advances · 2017Article
- Natural Variation in the Distribution and Abundance of Transposable Elements Across the Caenorhabditis elegans Species.Molecular biology and evolution · 2017Article
- SVA retrotransposons as potential modulators of neuropeptide gene expression.Neuropeptides · 2017Review
36 more citing papers are in PubMed but not listed here.
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Authors and funding
5 authors.
Funding
Abstract
Transposons and transposon-like repetitive elements collectively occupy 44% of the human genome sequence. In an effort to measure the levels of genetic variation that are caused by human transposons, we have developed a new method to broadly detect transposon insertion polymorphisms of all kinds in humans. We began by identifying 606,093 insertion and deletion (indel) polymorphisms in the genomes of diverse humans. We then screened these polymorphisms to detect indels that were caused by de novo transposon insertions. Our method was highly efficient and led to the identification of 605 nonredundant transposon insertion polymorphisms in 36 diverse humans. We estimate that this represents 25-35% of approximately 2075 common transposon polymorphisms in human populations. Because we identified all transposon insertion polymorphisms with a single method, we could evaluate the relative levels of variation that were caused by each transposon class. The average human in our study was estimated to harbor 1283 Alu insertion polymorphisms, 180 L1 polymorphisms, 56 SVA polymorphisms, and 17 polymorphisms related to other forms of mobilized DNA. Overall, our study provides significant steps toward (i) measuring the genetic variation that is caused by transposon insertions in humans and (ii) identifying the transposon copies that produce this variation.
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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.