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

人类基因组的概念正在发生变化。比以前认为的更多的基因组区域被转录成RNA。识别和进一步表征这些转录区域，人类转录组，将是至关重要的理解其在健康和疾病中的作用。约8%的人类基因组由人类内源性逆转录病毒（HERV）组成。HERV由于内在启动子和转录调节子而对人类转录组有显著贡献。HERV转录本存在于每个人体组织中，许多HERV基因座似乎保留了转录活性。然而，对健康和疾病中单个HERV基因座的转录活性和调控知之甚少。为了更好地理解HERV对人类转录组的贡献，以及它们在人类疾病中的潜在作用，我们将比较分析正常和患病人类组织和细胞类型中HERV基因座的转录。我们的研究将大大有助于填补正在进行的人类转录组特征国际倡议的关键空白。此外，我们的研究还将允许评估转录的HERV在调节潜在临床相关基因中的作用，可能揭示RNA水平上的临床标志物并鉴定临床相关的基因组区域。

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.