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Human Molecular Genetics, 2001, Vol. 10, No. 20 2233-2242
© 2001 Oxford University Press

Human diseases with underlying defects in chromatin structure and modification

Brian Hendrich+ and Wendy Bickmore1

Centre for Genome Research, University of Edinburgh, Roger Land Building, Edinburgh EH9 3JQ, Scotland, UK and 1MRC Human Genetics Unit, Crewe Road, Edinburgh EH4 2XU, Scotland, UK

Chromatin structure is important for regulating gene expression and for the proper condensation and segregation of chromosomes during cell division. Several human genetic diseases have been found to be due to mutations in genes producing proteins known or suspected to be involved in maintaining or modifying chromatin structure. Here we describe these ‘chromatin diseases’ and review what is known about the associated chromatin proteins in light of recent advances in the understanding of chromatin components, modification and function.

+ To whom correspondence should be addressed. Tel: +44 131 650 5890; Fax: +44 131 650 7773; Email: brian.hendrich@ed.ac.uk Correspondence may also be addressed to W.Bickmore. Tel: +44 131 332 2471; Fax: +44 131 343 2620; Email: w.bickmore@hgu.mrc.ac.uk


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