Characteristics of individual postmortem human cortex tissue samples and experimental outcomes. Age and gender are listed with the sample number (M, male; F, female). The expected genetic ratio is the number of maternal copies of 15q11-q13 to paternal copies (M:P). The percentage maternal allele-specific methylation in the fluorescent signal for both maternal and paternal melting peaks at the imprinting center of the Prader-Willi locus by methylation-sensitive high-resolution melting-curve analysis is shown in column 5 and then converted to a M:P ratio in column 6. Column 7 shows the M:P methylation ratio after normalization to control brain, with the average control (CTRL) set to 1.0. Columns 8 to 10 show the individual transcript levels normalized to CTRL brain. Protein levels are listed in columns 11 and 12. Each individual transcript and protein level was compared to the expected number of expressed copies relative to unaffected CTRL brain tissues. The data in columns 7 to 12 were then color-coded with a heat map used to visualize the fold changes as higher or lower than expected based on copy number and parental origin. Red is higher than and purple is lower than expected by copy number, with each intensity increase giving a 20% increase or decrease, respectively. *Case 7041 came from an individual who was on a respirator just prior to sample collection.
Scoles et al. Molecular Autism 2011 2:19 doi:10.1186/2040-2392-2-19