Journal Article

Human diseases with underlying defects in chromatin structure and modification

Brian Hendrich and Wendy Bickmore

in Human Molecular Genetics

Volume 10, issue 20, pages 2233-2242
Published in print October 2001 | ISSN: 0964-6906
Published online October 2001 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/10.20.2233
Human diseases with underlying defects in chromatin structure and modification

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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.

Journal Article.  9320 words.  Illustrated.

Subjects: Genetics and Genomics

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