Emery-dreifuss muscular dystrophy, nuclear cell signaling and chromatin remodeling

The physiological control of transcription is mediated by protein–DNA and protein–protein interactions at promoter elements, through the nuclear commitment of a wide spectrum of transcription factors (TFs) generated in response to signaling pathways. However, the regulatory elements are necessary but not sufficient to support expression in the biological context. The extent to which genes are activated and/or suppressed, in fact, depends on the chromatin structure that provides the linkage between gene organization and components of transcriptional control (Stein et al., 1999). The conceptual and experimental basis for involvement of multiple parameters of nuclear organization in transcriptional control has been greatly improved in recent years. In this paper, we will address some key findings that account for the molecular mechanisms that mediate chromatin remodeling as a prerequisite of gene transcription. We will also consider the possibility that modifications in these mechanisms could be causally related to compromised gene expression under pathological conditions, namely in a group of human muscular dystrophies.