ArticleMolecular psychiatry2003
beta-1,3-Glucuronyltransferase-1 gene implicated as a candidate for a schizophrenia-like psychosis through molecular analysis of a balanced translocation.
Article in Molecular psychiatry, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 41 citations in OpenAlex.
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- Aberrant glycosylation in schizophrenia: insights into pathophysiological mechanisms and therapeutic potentials.Frontiers in pharmacology · 2024Review
- Gene Expression Profiling in Huntington's Disease: Does Comorbidity with Depressive Symptoms Matter?International journal of molecular sciences · 2020Article
- Seizure protein 6 controls glycosylation and trafficking of kainate receptor subunits GluK2 and GluK3.The EMBO journal · 2020Article
- How Genes Modulate Patterns of Aging-Related Changes on the Way to 100: Biodemographic Models and Methods in Genetic Analyses of Longitudinal Data.North American actuarial journal : NAAJ · 2016Article
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- Regulated expression and neural functions of human natural killer-1 (HNK-1) carbohydrate.Cellular and molecular life sciences : CMLS · 2012Review
- GWAS reveals new recessive loci associated with non-syndromic facial clefting.European journal of medical genetics · 2012Article
- The glucuronyltransferase GlcAT-P is required for stretch growth of peripheral nerves in Drosophila.PloS one · 2011Article
- New copy number variations in schizophrenia.PloS one · 2010Article
- Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype.Molecular syndromology · 2010Article
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- Widespread disruption of repressor element-1 silencing transcription factor/neuron-restrictive silencer factor occupancy at its target genes in Huntington's disease.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2007Article
- Cytogenetics and gene discovery in psychiatric disorders.The pharmacogenomics journal · 2005Review
- Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have mapped and sequenced both chromosome breakpoints of a balanced t(6;11)(q14.2;q25) chromosome translocation that segregates with a schizophrenia-like psychosis. Bioinformatics analysis of the regions revealed a number of confirmed and predicted transcripts. No confirmed transcripts are disrupted by either breakpoint. The chromosome 6 breakpoint region is gene poor, the closest transcript being the serotonin receptor 1E (HTR1E) at 625 kb telomeric to the breakpoint. The chromosome 11 breakpoint is situated close to the telomere. The closest gene, beta-1,3-glucuronyltransferase (B3GAT1 or GlcAT-P), is 299 kb centromeric to the breakpoint. B3GAT1 is the key enzyme during the biosynthesis of the carbohydrate epitope HNK-1, which is present on a number of cell adhesion molecules important in neurodevelopment. Mice deleted for the B3GAT1 gene show defects in hippocampal long-term potentiation and in spatial memory formation. We propose that the translocation causes a positional effect on B3GAT1, affecting expression levels and making it a plausible candidate for the psychosis found in this family. More generally, regions close to telomeres are highly polymorphic in both sequence and length in the general population and several studies have implicated subtelomeric deletions as a common cause of idiopathic mental retardation. This leads us to the hypothesis that polymorphic or other variation of the 11q telomere may affect the activity of B3GAT1 and be a risk factor for schizophrenia and related psychoses in the general population.
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