ArticleEuropean journal of human genetics : EJHG2013
Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements.
Article in European journal of human genetics : EJHG, 2013. 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, 23 citations in OpenAlex.
- DNA Replication Errors Drive Genome-Wide Small Inverted Triplication Dynamics.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci.Cell genomics · 2024Article
- Cruciform DNA Structures Act as Legible Templates for Accelerating Homologous Recombination in Transgenic Animals.International journal of molecular sciences · 2022Article
- Accurate detection of complex structural variations using single-molecule sequencing.Nature methods · 2018Article
- Mechanisms underlying structural variant formation in genomic disorders.Nature reviews. Genetics · 2016Review
- Methylomic analysis of salivary DNA in childhood ADHD identifies altered DNA methylation in VIPR2.Journal of child psychology and psychiatry, and allied disciplines · 2016Article
- Human inversions and their functional consequences.Briefings in functional genomics · 2015Review
- Double, Double Toil and Trouble.Molecular syndromology · 2015Article
- Absence of heterozygosity due to template switching during replicative rearrangements.American journal of human genetics · 2015Article
- Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.PLoS genetics · 2015Article
- Targeting of vasoactive intestinal peptide receptor 2, VPAC2, a secretin family G-protein coupled receptor, to primary cilia.Biology open · 2013Article
- Definition and refinement of the 7q36.3 duplication region associated with schizophrenia.Scientific reports · 2013Article
- Search for missing schizophrenia genes will require a new developmental neurogenomic perspective.Journal of genetics · 2013Review
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Authors and funding
3 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Submicroscopic structural variations, including deletions, duplications, inversions and more complex rearrangements, are widespread in normal human genomes. Inverted segmental duplications or highly identical low-copy repeat (LCR) sequences can mediate the formation of inversions and more complex structural rearrangements through non-allelic homologous recombination. In a patient with 7q36 inverted duplication/terminal deletion, we demonstrated the central role of a pair of short inverted LCRs in the vasoactive intestinal peptide receptor gene (VIPR2)-LCRs in generating the rearrangement. We also revealed a relatively common VIPR2-LCR-associated inversion polymorphism disrupting the gene in almost 1% of healthy subjects, and a small number of complex duplications/triplications. In genome-wide studies of several thousand patients, a significant association of rare microduplications with variable size, all involving VIPR2, with schizophrenia was recently described, suggesting that altered vasoactive intestinal peptide signaling is likely implicated in the pathogenesis of schizophrenia. Genetic testing for VIPR2-LCR-associated inversions should be performed on available cohorts of psychiatric patients to evaluate their potential pathogenic role.
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