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Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R207-13. Epub 2003 Aug 5.

Perturbations of chromatin structure in human genetic disease: recent advances.

Author information

1
MRC Human Genetics Unit, Edinburgh EH4 2XU, Scotland, UK. w.bickmore@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, facioscapulohumeral muscular dystrophy and a case of alpha-thalassaemia.

PMID:
12915455
DOI:
10.1093/hmg/ddg260
[Indexed for MEDLINE]

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