ArticleGenome research2003
Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution.
Article in Genome research, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers.
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Who cites it
63 citing papers in PubMed, 136 citations in OpenAlex.
- Evolution of Highly Repetitive Silk Genes in the Luna Moth, Actias luna.Genome biology and evolution · 2026Article
- Article
- Resolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- An ancestral genomic sequence that serves as a nucleation site for de novo gene birth.PloS one · 2022Article
- 22q11.2 Low Copy Repeats Expanded in the Human Lineage.Frontiers in genetics · 2021Article
- A Model-Driven Quantitative Analysis of Retrotransposon Distributions in the Human Genome.Genome biology and evolution · 2020Article
- Review
- Formation of human long intergenic non-coding RNA genes, pseudogenes, and protein genes: Ancestral sequences are key players.PloS one · 2020Article
- Human Ubiquitin-Specific Peptidase 18 Is Regulated by microRNAsFrontiers in genetics · 2020Article
- Molecular genetics of 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2018Review
- Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.Human molecular genetics · 2018Article
- Article
- A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium.Molecular psychiatry · 2017Article
- Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.American journal of human genetics · 2017Article
- Analysis of Copy Number Variation in the Abp Gene Regions of Two House Mouse Subspecies Suggests Divergence during the Gene Family Expansions.Genome biology and evolution · 2017Article
- An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome.Scientific reports · 2017Article
- Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.Human molecular genetics · 2016Article
- 22q11.2 deletion syndrome.Nature reviews. Disease primers · 2015Review
- Complexity of a small non-protein coding sequence in chromosomal region 22q11.2: presence of specialized DNA secondary structures and RNA exon/intron motifs.BMC genomics · 2015Article
- The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.American journal of human genetics · 2014Article
3 more citing papers are in PubMed but not listed here.
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Low-copy repeats, or segmental duplications, are highly dynamic regions in the genome. The low-copy repeats on chromosome 22q11.2 (LCR22) are a complex mosaic of genes and pseudogenes formed by duplication processes; they mediate chromosome rearrangements associated with velo-cardio-facial syndrome/DiGeorge syndrome, der(22) syndrome, and cat-eye syndrome. The ability to trace the substrates and products of recombination events provides a unique opportunity to identify the mechanisms responsible for shaping LCR22s. We examined the genomic sequence of known LCR22 genes and their duplicated derivatives. We found Alu (SINE) elements at the breakpoints in the substrates and at the junctions in the truncated products of recombination for USP18, GGT, and GGTLA, consistent with Alu-mediated unequal crossing-over events. In addition, we were able to trace a likely interchromosomal Alu-mediated fusion between IGSF3 on 1p13.1 and GGT on 22q11.2. Breakpoints occurred inside Alu elements as well as in the 5' or 3' ends of them. A possible stimulus for the 5' or 3' terminal rearrangements may be the high sequence similarities between different Alu elements, combined with a potential recombinogenic role of retrotransposon target-site duplications flanking the Alu element, containing potentially kinkable DNA sites. Such sites may represent focal points for recombination. Thus, genome shuffling by Alu-mediated rearrangements has contributed to genome architecture during primate evolution.
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