ArticleTranslational psychiatry2012
Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome.
Article in Translational psychiatry, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 30 citations in OpenAlex.
- Integrative analysis of genetics, epigenetics and RNA expression data reveal three susceptibility loci for smoking behavior in Chinese Han population.Molecular psychiatry · 2024Article
- Epigenome-Wide DNA Methylation in Unipolar Depression: Predictive Biomarker of Antidepressant Treatment Response?The international journal of neuropsychopharmacology · 2024Article
- Article
- Genomic map of candidate human imprint control regions: the imprintome.Epigenetics · 2022Article
- Early deviant behaviour as a dimension trait and endophenotype in schizophrenia.The South African journal of psychiatry : SAJP : the journal of the Society of Psychiatrists of South Africa · 2022Review
- Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.BMC medical genomics · 2021Article
- Spatiotemporal 22q11.21 Protein Network Implicates DGCR8-Dependent MicroRNA Biogenesis as a Risk for Late-Fetal Cortical Development in Psychiatric Diseases.Life (Basel, Switzerland) · 2021Article
- Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot.Journal of genetics · 2021Article
- Genotypic and phenotypic variability of 22q11.2 microdeletions - an institutional experience.AIMS molecular science · 2021Article
- Review
- CNVs and Chromosomal Aneuploidy in Patients With Early-Onset Schizophrenia and Bipolar Disorder: Genotype-Phenotype Associations.Frontiers in psychiatry · 2020Article
- In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?Journal of neurodevelopmental disorders · 2019Review
- The Genetics and Epigenetics of 22q11.2 Deletion Syndrome.Frontiers in genetics · 2019Review
- Two approaches reveal a new paradigm of 'switchable or genetics-influenced allele-specific DNA methylation' with potential in human disease.Cell discovery · 2017Article
- Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.Human genetics · 2016Article
- Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms.Journal of neurodevelopmental disorders · 2015Article
- 22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis.Neuropsychiatric disease and treatment · 2013Review
- Implications of COMT long-range interactions on the phenotypic variability of 22q11.2 deletion syndrome.Nucleus (Austin, Tex.)Article
Corrections and comments
- Erratum issuedChakraborty, D [corrected to Das Chakraborty, R]
Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
Chromosome 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans. It is typified by highly variable symptoms, which might be explained by epigenetic regulation of genes in the interval. Using computational algorithms, our laboratory previously predicted that DiGeorge critical region 6 (DGCR6), which lies within the deletion interval, is imprinted in humans. Expression and epigenetic regulation of this gene have not, however, been examined in 22q11DS subjects. The purpose of this study was to determine if the expression levels of DGCR6 and its duplicate copy DGCR6L in 22q11DS subjects are associated with the parent-of-origin of the deletion and childhood psychopathologies. Our investigation showed no evidence of parent-of-origin-related differences in expression of both DGCR6 and DGCR6L. However, we found that the variability in DGCR6 expression was significantly greater in 22q11DS children than in age and gender-matched control individuals. Children with 22q11DS who had anxiety disorders had significantly lower DGCR6 expression, especially in subjects with the deletion on the maternal chromosome, despite the lack of imprinting. Our findings indicate that epigenetic mechanisms other than imprinting contribute to the dysregulation of these genes and the associated childhood psychopathologies observed in individuals with 22q11DS. Further studies are now needed to test the usefulness of DGCR6 and DGCR6L expression and alterations in the epigenome at these loci in predicting childhood anxiety and associated adult-onset pathologies in 22q11DS subjects.
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