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Human diseases with underlying defects in chromatin structure and modification.

TitleHuman diseases with underlying defects in chromatin structure and modification.
Publication TypeJournal Article
Year of Publication2001
AuthorsHendrich B, Bickmore WA
JournalHum Mol Genet
Volume10
Issue20
Pagination2233-42
Date Published2001 Oct 1
ISSN0964-6906
KeywordsChromatin, DNA, Gene Expression Regulation, Gene Silencing, Genetic Diseases, Inborn, Histones, Humans, Molecular Conformation, Transcription, Genetic
Abstract

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.

Alternate JournalHum. Mol. Genet.
PubMed ID11673406