Transcriptional derepression as a cause of genetic diseases

Transcription of DNA into mRNA is a highly regulated process directed by a complex molecular machine comprising more than 100 proteins. Regulation of transcription occurs by both positive (transcriptional activation) and negative (transcriptional repression) mechanisms. Recently, inappropriate transcriptional derepression has been found as the underlying basis of several human genetic diseases. The putative target genes, whose inappropriate expression is thought to cause disease, have remained elusive but are being searched for intensively.