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Expression of the PRKCA Gene and Overview of the Gene Region

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posted on 2013-02-22, 08:44 authored by Janna Saarela, Suvi P Kallio, Daniel Chen, Alexandre Montpetit, Anne Jokiaho, Eva Choi, Rosanna Asselta, Denis Bronnikov, Matthew R Lincoln, A. Dessa Sadovnick, Pentti J Tienari, Keijo Koivisto, Aarno Palotie, George C Ebers, Thomas J Hudson, Leena Peltonen

(A) RT-PCR analysis of expression of the PRKCA gene in isolated human cells.

(B) Relative levels of the PRKCA gene expression in CD4⁻ blood mononuclear cells in individuals with one (n[controls] = 4, n[MS] = 3) or two copies (n[controls] = 4, n[MS] = 5) of the “risk” MS haplotype. Ct(PRKCA) values are normalized against mean of Ct(HMBS) and Ct(β-actin) and are shown on the y-axis and the number of putative disease haplotypes (rs887797–rs1010544: C-A) in the x-axis. (Ct = number of amplification cycles required to reach the selected signal threshold, thus higher Ct values mean lower relative expression levels). Expression in MS cases is shown with black diamonds and in healthy controls with white squares (average ± SD are given for all individuals as horizontal lines).

(C) UCSC Human Genome Browser view of the critical region of the PRKCA gene (chr17:61,980,000–62,158,000). The genomic DNA region covered by haplotype blocks 4–7 (in Canadians) and blocks 4–9 (in Finns) is indicated on top. The ruler shows map positions on chromosome 17 (UCSC Genome Browser, April, 2004). Names and positions of the SNPs used in the haplotype analysis are shown above the ruler. The names of the mRNA clones corresponding to the PRKCA gene variants are shown on the left and to the three other mRNA clones beside them in the middle. The spliced and unspliced ESTs, respectively, are shown in the middle of the figure. Conservation between species and the repeat masker are indicated below.