Imprinting centers, chromatin structure, and disease.
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.
Soejima
Hidenobu
H
Division of Molecular Biology and Genetics, Department of Biomolecular Sciences, Saga Medical School, Saga, Japan.
Wagstaff
Joseph
J
D002843:Chromatin / Q000737:chemistry*; D018392:Genomic Imprinting; D006801:Humans; D011218:Prader-Willi Syndrome / Q000235:genetics; D011487:Protein Conformation
D002843:Chromatin