Human diseases with underlying defects in chromatin structure and modification

被引：67

作者：

Hendrich, B

Bickmore, W

机构：

[1] Univ Edinburgh, Ctr Genome Res, Edinburgh EH9 3JQ, Midlothian, Scotland

[2] MRC, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

来源：

HUMAN MOLECULAR GENETICS | 2001年 / 10卷 / 20期

关键词：

D O I：

10.1093/hmg/10.20.2233

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

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页码：2233 / 2242

页数：10

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