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Human Molecular Genetics Advance Access originally published online on August 5, 2003
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Human Molecular Genetics, 2003, Vol. 12, Review Issue 2 R207-R213
DOI: 10.1093/hmg/ddg260
© 2003 Oxford University Press

Perturbations of chromatin structure in human genetic disease: recent advances

Wendy A. Bickmore1,* and Silvère M. van der Maarel2

1MRC Human Genetics Unit, Crewe Road, Edinburgh EH4 2XU, Scotland, UK and 2Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Wassenaarsweg 72, 2333 AL Leiden, The Netherlands

Received June 30, 2003; Accepted July 13, 2003

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.

* To whom correspondence should be addressed. Tel: +44 1313322471; Fax: +44 1314678456; Email: w.bickmore{at}hgu.mrc.ac.uk


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