Using Next-Gen Sequencing to Uncover Patterns of Allele-Specific Expression

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SELECTBIO

Allelic imbalance refers to the unequal expression from maternal and paternal chromosomes of non-imprinted genes and has been shown to be a genome-wide phenomenon. Allelic imbalance can now be accurately measured by analyzing abundance of coding heterozygous SNPs from RNA sequencing and can range from 1:2 to more than 1:64; yet the mechanisms involved are not completely understood. In my presentation I will discuss data from next generation sequencing of CD4+ T cells from a pair of monozygotic twins discordant for the autoimmune disorder multiple sclerosis showing differential allelic expression in several genes. In many cases, the index variants are close to transcription factor binding sites in heavily methylated areas of the genome. However, the correlation with differential methylation patterns is not straightforward, thus suggesting a more complex regulatory mechanism is involved in allelic expression.