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Human Molecular Genetics Advance Access published online on August 7, 2006
Human Molecular Genetics, doi:10.1093/hmg/ddl192
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© The Author 2006. Published by Oxford University Press. All rights reserved
Received May 9, 2006
Revised July 10, 2006
Accepted July 25, 2006

Article

Allelic mRNA expression of X-linked monoamine oxidase A (MAOA) in human brain: Dissection of epigenetic and genetic factors

Julia K Pinsonneault 1 *, Audrey C Papp 2, and Wolfgang Sadée 2

1 Department of Pharmacology Program in Pharmacogenomics, College of Medicine and Public Health, Ohio State University, 333 West 10th Ave, Columbus, Ohio, 43210 USA
2 Department of Pharmacology Program in Pharmacogenomics, College of Medicine and Public Health, Ohio State University, Ohio, 43210 USA

* To whom correspondence should be addressed.
Julia K Pinsonneault, E-mail: pinsonneault.2{at}osu.edu


  Abstract

A pVNTR repeat polymorphism located in the promoter region of the X-linked MAOA gene has been associated with mental disorders. To explore the effect of polymorphisms and epigenetic factors on mRNA expression, we have measured allelic expression imbalance (AEI) in female human brain tissue, employing two frequent marker SNPs in exon 8 (T890G) and exon 14 (C1409T) of MAOA. This approach compares one allele against the other in the same subject. AEI ratios ranged from 0.3 to 4 in prefrontal cortex, demonstrating the presence of strong cis-acting factors in mRNA expression. Analysis of CpG methylation in the MAOA promoter region revealed substantial methylation in females but not males. MAOA methylation ratios for the 3- and 4-repeat pVNTR alleles of MAOA did not correlate with X chromosome inactivation ratios, determined at the X-linked androgen receptor locus, suggesting an alternative process of dosage compensation in females. The extent of allelic MAOA methylation was highly variable and correlated with AEI (R2 = 0.5 and 0.7 at two CpG loci), indicating that CpG methylation regulates gene expression. Genetic factors appeared also to contribute to the AEI ratios. Genotyping of 13 MAOA polymorphisms in female subjects showed strong association with a haplotype block spanning from the pVNTR to the marker SNP. Therefore, allelic mRNA expression is affected by genetic and epigenetic events, both with the potential to modulate biogenic amine tone in the CNS.


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