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Imprinting centers, chromatin structure, and disease

✍ Scribed by Hidenobu Soejima; Joseph Wagstaff

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
115 KB
Volume
95
Category
Article
ISSN
0730-2312

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✦ Synopsis

Abstract

Two regions that best exemplify the role of genetic imprinting in human disease are the Prader–Willi syndrome/Angelman syndrome (PWS/AS) region in 15q11‐q13 and the Beckwith–Wiedemann syndrome (BWS) region in 11p15.5. In both regions, cis‐acting sequences known as imprinting centers (ICs) regulate parent‐specific gene expression bidirectionally over long distances. ICs for both regions are subject to parent‐specific epigenetic marking by covalent modification of DNA and histones. In this review, we summarize our current understanding of IC function and IC modification in these two regions. © 2005 Wiley‐Liss, Inc.

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