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Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia
Open accessAbstract
The location of a schizophrenia susceptibility locus at chromosome 22q11 has been suggested by genome-wide linkage studies. Additional support was provided by the observation of a higher-than-expected frequency of 22q11 microdeletions in patients with schizophrenia and the demonstration that approximately 20-30% of individuals with 22q11 microdeletions develop schizophrenia or schizoaffective disorder in adolescence and adulthood. Analysis of the extent of these microdeletions by using polymorphic markers afforded further refinement of this locus to a region of approximately 1.5 Mb. Recently, a high rate of 22q11 microdeletions was also reported for a cohort of 47 patients with Childhood Onset Schizophrenia, a rare and severe form of schizophrenia with onset by age 13. It is therefore likely that this 1.5-Mb region contains one or more genes that predispose to schizophrenia. In three independent samples, we provide evidence for a contribution of the PRODH2/DGCR6 locus in 22q11-associated schizophrenia. We also uncover an unusual pattern of PRODH2 gene variation that mimics the sequence of a linked pseudogene. Several of the pseudogene-like variants we identified result in missense changes at conserved residues and may prevent synthesis of a fully functional enzyme. Our results have implications for understanding the genetic basis of the 22q11-associated psychiatric phenotypes and provide further insights into the genomic instability of this region.
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“the DiGeorge critical region 6 and its duplication (DGCR6L) have been shown to interact with the gamma-aminobutyric acid GABA-B1 receptor subunit (Zunner et al., 2010) and to be related to anxiety in children with chromosome 22q11.2 deletion syndrome (Das Chakraborty et al., 2012) as well as to schizophrenia (Liu et al., 2002).”
From Epigenome-wide DNA methylation in unipolar depression: predictive biomarker of antidepressant treatment response? (2024) · cites this paper as Liu et al., 2002
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Mouse Models of 22q11 Deletion Syndrome
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Metadata
- Authors
- Liu, H., Heath, S. C., Sobin, C., Roos, J. L., Galke, B. L., Blundell, M. L., Lenane, M., Robertson, B., Wijsman, E. M., Rapoport, J. L., Gogos, J. A., & Karayiorgou, M.
- Affiliations
- Memorial Sloan Kettering Cancer Center (US)
- Human Neurogenetics Laboratory, The Rockefeller University, New York, NY 10021; Memorial Sloan Kettering Cancer Center, New York, NY 10021; Department of Psychiatry and Weskoppies Hospital, University of Pretoria, Pretoria 0083, Republic of South Africa; Child Psychiatry Branch, National Institute of Mental Health, Bethesda, MD 20892; Department of Psychiatry and Valkenberg Hospital, University of Capetown, Capetown 7925, Republic of South Africa; Division of Medical Genetics and Department of...
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2002-03-12
- Volume
- 99
- Issue
- 6
- Pages
- 3717-3722
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC122590
- OpenAlex
- W2110334080
- Cited by
- 323
- References
- 28
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 3 · 2023: 2 · 2022: 2 · 2021: 3 · 2020: 7 · 2019: 15 · 2018: 9 · 2017: 10 · 2016: 10 · 2015: 7 · 2014: 7 · 2013: 13 · 2012: 8
- FWCI
- 21.34
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (2m01rr000102-41)
- National Center for Research Resources (M01-RR000102, M0-1 RR00102)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- schizophrenia, 22q11.2 deletion syndrome, childhood schizophrenia, missense mutations, genomic instability, chromosome 22q11
- MeSH terms
- Africa, Alleles, Amino Acid Sequence, Child, Chromosomes, Human, Pair 22, Europe, Haplotypes, Humans, Hybrid Cells, Molecular Sequence Data, Mutation, Nuclear Proteins, Phenotype, Proline Oxidase, Proteins, Pseudogenes, Schizophrenia, United States, Genetic Variation, Cohort Studies, Linkage Disequilibrium, Extracellular Matrix Proteins, Sequence Alignment, Age of Onset, Genetic Predisposition to Disease, Mutation, Missense, Polymorphism, Single Nucleotide
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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