Digital RNA Allelotyping Reveals Tissue-Specific and Allele-Specific Gene Expression in Human

摘要: We developed a digital RNA allelotyping method for quantitatively interrogating allele-specific gene expression. This involves ultra-deep sequencing of padlock captured SNPs from the transcriptome. characterized four cell lines established two human subjects in Personal Genome Project. Approximately 11–22% heterozygous mRNA-associated show expression each line; and 4.3–8.5% are tissue-specific, suggesting presence tissue-specific cis-regulation. When applied to pairs sibling embryonic stem lines, were more similar than genetically unrelated lines. found that variation allelic ratios among different is primarily explained by genetic variations, much so specific tissue types or culturing conditions. Comparison expressed on sense anti-sense transcripts suggested determined cis-regulatory mechanisms transcripts.