Towards a thorough description of transcribed Human Endogenous Retrovirus loci - and their potential involvement - in Health and Disease

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The notion of the human genome is changing. Many more genome regions than previously thought are transcribed into RNA. Identification and further characterization of those transcribed regions, the human transcriptome, will be essential to comprehend its role in health and disease. About 8% of the human genome is comprised of human endogenous retroviruses (HERVs). HERVs contribute significantly to the human transcriptome because of intrinsic promoters and transcriptional regulators. HERV transcripts are found in every human tissue and many HERV loci seem to have retained transcriptional activity. Yet, very little is known about transcriptional activity and regulation of individual HERV loci in health and disease. To better comprehend the contribution of HERVs to the human transcriptome, and their potential roles in human diseases, we will comparatively analyse transcription of HERV loci in normal and diseased human tissues and cell types. Our 4research will significantly contribute to filling a crucial gap in ongoing international initiatives for characterizing the human transcriptome. Furthermore, our research will also allow to asses the role of transcribed HERVs in regulating genes of potential clinical relevance, likely reveal clinical markers on the RNA level and identify clinically relevant genome regions.