Disorders of Transcriptional Regulation: An Emerging Category of Multiple

Kosuke Izumi

Accepted: July 13, 2016 by M. Schmid
Published online: September 2, 2016

Abstract:

Some genetic disorders caused by mutations in genes encoding components of the transcriptional machinery as well as proteins involved in epigenetic modification of the genome share many overlapping features, such as facial dysmorphisms, growth problems and developmental delay/intellectual disability. As a basis for some shared phenotypic characteristics in these syndromes, a similar transcriptome disturbance, characterized by global transcriptional dysregulation, is believed to play a major role. In this review article, a general overview of gene transcription is provided, and the current knowledge of the mechanisms underlying some disorders of transcriptional regulation, such as RubinsteinTaybi, Coffin-Siris, Cornelia de Lange, and CHOPS syndromes, are discussed.