Regulation of RNA polymerase II-mediated transcriptional elongation: Implications in human disease

Expression of protein-coding genes is primarily regulated at the level of transcription. Most of the earlier studies focussed on understanding the assembly of the pre-initiation complex at the promoter of genes and subsequent initiation of transcription as the regulatory steps in transcription. However, research over the last decade has demonstrated the significance of regulating transcription of genes at the elongation stage. Several new proteins have been identified that control this step and our knowledge about their functions is expanding rapidly. Moreover, an increasing body of evidence suggests that a dysfunction of these transcription elongation factors is related to several diseases. Here, we review the latest advances in our understanding about the in vivo roles of the transcription elongation factors and their link with diseases. © 2016 IUBMB Life, 68(9):709-716, 2016.