Literature DB >> 20590401

Fine mapping of calcineurin (PPP3CA) gene reveals novel alternative splicing patterns, association of 5'UTR trinucleotide repeat with addiction vulnerability, and differential isoform expression in Alzheimer's disease.

Matthew J Chiocco1, Xuguang Zhu, Donna Walther, Olga Pletnikova, Juan C Troncoso, George R Uhl, Qing-Rong Liu.   

Abstract

Fine mapping of calcineurin (PPP3CA) gene identified single nucleotide polymorphisms (SNPs) and simple sequence repeat polymorphisms that are associated with addiction vulnerability. A trinucleotide repeat marker, located in the 5'untranslated region (5'UTR) of the PPP3CA mRNA, exhibited significantly different genotype and allele frequencies between abusers and controls in the NIDA African-American sample. The polymorphism showed allelic-specific expression in mRNA extracted from postmortem brain specimens. Novel alternatively spliced isoforms of PPP3CA were identified and their expressions were found altered in brain regions of postmortem Alzheimer's disease patients. These data underscore the importance of calcineurin gene in the molecular mechanism of addiction and Alzheimer's diseases.

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Year:  2010        PMID: 20590401      PMCID: PMC3031160          DOI: 10.3109/10826084.2010.482449

Source DB:  PubMed          Journal:  Subst Use Misuse        ISSN: 1082-6084            Impact factor:   2.164


  25 in total

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5.  Genome-wide association study of opioid dependence: multiple associations mapped to calcium and potassium pathways.

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6.  Transcriptome analyses of chronic traumatic encephalopathy show alterations in protein phosphatase expression associated with tauopathy.

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7.  Neurexin 3 transmembrane and soluble isoform expression and splicing haplotype are associated with neuron inflammasome and Alzheimer's disease.

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9.  Association of the PPP3CA c.249G>A variant with clinical outcomes of tacrolimus-based therapy in kidney transplant recipients.

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Review 10.  Anti-Inflammatory and Pro-Autophagy Effects of the Cannabinoid Receptor CB2R: Possibility of Modulation in Type 1 Diabetes.

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