Human diseases with underlying defects in chromatin structure and modification.
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.
Hendrich
B
B
Centre for Genome Research, University of Edinburgh, Roger Land Building, Edinburgh EH9 3JQ, Scotland, UK. brian.hendrich@ed.ac.uk
Bickmore
W
W
D002843:Chromatin / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D005786:Gene Expression Regulation; D020868:Gene Silencing; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006657:Histones / Q000235:genetics; D006801:Humans; D008968:Molecular Conformation; D014158:Transcription, Genetic
D002843:Chromatin; D006657:Histones; D004247:DNA