Perturbations of chromatin structure in human genetic disease: recent advances.
Gene expression studies in mammals and simpler eukaryotes have highlighted the central role that chromatin structure and modifications play in both the activation and repression of transcription. Aberrant chromatin structure can cause human genetic disease. Here we discuss recent progress in understanding the molecular mechanisms that underlie three human genetic diseases linked to perturbations of chromatin structure: ICF syndrome, facioscapulohumeral muscular dystrophy and a case of alpha-thalassaemia.
Bickmore
Wendy A
WA
MRC Human Genetics Unit, Edinburgh EH4 2XU, Scotland, UK. w.bickmore@hgu.mrc.ac.uk
van der Maarel
Silvere M
SM
D002843:Chromatin / Q000737:chemistry* / Q000235:genetics; D019175:DNA Methylation; D015870:Gene Expression; D020868:Gene Silencing / Q000502:physiology; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016372:RNA, Antisense / Q000502:physiology
D002843:Chromatin; D016372:RNA, Antisense