ArticleMobile DNA2011
Alu pair exclusions in the human genome.
Article in Mobile DNA, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 22 citations in OpenAlex.
- Inverted Alu repeats in loop-out exon skipping across hominoid evolution.Nucleic acids research · 2026Article
- Direct identification ofbioRxiv : the preprint server for biology · 2025Article
- Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanism.American journal of human genetics · 2024Article
- Protein innovation through template switching in the Saccharomyces cerevisiae lineage.Scientific reports · 2021Article
- Purifying selection of long dsRNA is the first line of defense against false activation of innate immunity.Genome biology · 2020Article
- Structural variation and its potential impact on genome instability: Novel discoveries in the EGFR landscape by long-read sequencing.PloS one · 2020Article
- Chromatin organization modulates the origin of heritable structural variations in human genome.Nucleic acids research · 2019Article
- Single-strand annealing between inverted DNA repeats: Pathway choice, participating proteins, and genome destabilizing consequences.PLoS genetics · 2018Article
- Sequence Analysis and Characterization of Active Human Alu Subfamilies Based on the 1000 Genomes Pilot Project.Genome biology and evolution · 2015Article
- Analysis of western lowland gorilla (Gorilla gorilla gorilla) specific Alu repeats.Mobile DNA · 2013Article
- Detecting Alu insertions from high-throughput sequencing data.Nucleic acids research · 2013Article
- Article
- Multiple cellular mechanisms prevent chromosomal rearrangements involving repetitive DNA.Critical reviews in biochemistry and molecular biologyReview
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundThe human genome contains approximately one million Alu elements which comprise more than 10% of human DNA by mass. Alu elements possess direction, and are distributed almost equally in positive and negative strand orientations throughout the genome. Previously, it has been shown that closely spaced Alu pairs in opposing orientation (inverted pairs) are found less frequently than Alu pairs having the same orientation (direct pairs). However, this imbalance has only been investigated for Alu pairs separated by 650 or fewer base pairs (bp) in a study conducted prior to the completion of the draft human genome sequence.
resultsWe performed a comprehensive analysis of all (> 800,000) full-length Alu elements in the human genome. This large sample size permits detection of small differences in the ratio between inverted and direct Alu pairs (I:D). We have discovered a significant depression in the full-length Alu pair I:D ratio that extends to repeat pairs separated by ≤ 350,000 bp. Within this imbalance bubble (those Alu pairs separated by ≤ 350,000 bp), direct pairs outnumber inverted pairs. Using PCR, we experimentally verified several examples of inverted Alu pair exclusions that were caused by deletions.
conclusionsOver 50 million full-length Alu pairs reside within the I:D imbalance bubble. Their collective impact may represent one source of Alu element-related human genomic instability that has not been previously characterized.
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What OpenQuestion holds
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.