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. Chiocco; Xuguang Zhu; Donna Walther; Olga Pletnikova; Juan C. Troncoso; George R. Uhl; Qing Rong Liu

doi:10.3109/10826084.2010.482449

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. Chiocco, Xuguang Zhu, Donna Walther, Olga Pletnikova, Juan C. Troncoso, George R. Uhl, Qing Rong Liu

School of Medicine

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

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.

Original language	English (US)
Pages (from-to)	1809-1826
Number of pages	18
Journal	Substance Use and Misuse
Volume	45
Issue number	11
DOIs	https://doi.org/10.3109/10826084.2010.482449
State	Published - Jun 2010

Keywords

Alternative splicing
Gene regulation
Phosphatase
SNP association

ASJC Scopus subject areas

Medicine (miscellaneous)
Health(social science)
Public Health, Environmental and Occupational Health
Psychiatry and Mental health

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Chiocco, M. J., Zhu, X., Walther, D., Pletnikova, O., Troncoso, J. C., Uhl, G. R., & Liu, Q. R. (2010). 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. Substance Use and Misuse, 45(11), 1809-1826. https://doi.org/10.3109/10826084.2010.482449

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. / Chiocco, Matthew J.; Zhu, Xuguang; Walther, Donna et al.
In: Substance Use and Misuse, Vol. 45, No. 11, 06.2010, p. 1809-1826.

Research output: Contribution to journal › Article › peer-review

Chiocco, MJ, Zhu, X, Walther, D, Pletnikova, O, Troncoso, JC, Uhl, GR & Liu, QR 2010, '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', Substance Use and Misuse, vol. 45, no. 11, pp. 1809-1826. https://doi.org/10.3109/10826084.2010.482449

Chiocco MJ, Zhu X, Walther D, Pletnikova O, Troncoso JC, Uhl GR et al. 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. Substance Use and Misuse. 2010 Jun;45(11):1809-1826. doi: 10.3109/10826084.2010.482449

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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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author = "Chiocco, {Matthew J.} and Xuguang Zhu and Donna Walther and Olga Pletnikova and Troncoso, {Juan C.} and Uhl, {George R.} and Liu, {Qing Rong}",

note = "Funding Information: We thank Judith Hess, Feely Carillo, and Brenda Campbell for assistance with collection of the NIDA clinical samples studied here and cite financial support from NIH IRP (NIDA). We also thank Dr. Florence Theberge and Dr. Maria Flavia Barbano for the abstract translations to French and Spanish, respectively.",

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AB - 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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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

Abstract

Keywords

ASJC Scopus subject areas

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