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Human Molecular Genetics Advance Access published online on August 5, 2003
Human Molecular Genetics, doi:10.1093/hmg/ddg260
© 2003 by Oxford University Press
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©2003 Oxford University Press

Article

Perturbations of chromatin structure in human genetic disease: recent advances

Wendy A. Bickmore 1* and Silvère M. van der Maarel 2

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

* To whom correspondence should be addressed. E-mail: w.bickmore{at}hgu.mrc.ac.uk.


  Abstract

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, FSHD, and a case of a-thalassaemia.


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