Structure and function of the human chromosome 15 imprinting center.
The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct neurogenetic disorders that are caused by a deficiency of paternal (PWS) or maternal (AS) contributions to chromosome 15. The affected genes are located in an imprinted chromosomal domain of 2 Mb, which is controlled by an imprinting center (IC). The IC has been mapped to a 100-kb region including the SNRPN gene and appears to have a bipartite structure. Mutations of the proximal part of the IC block the paternal-->maternal imprint switch during female gametogenesis, whereas mutations of the distal part of the IC block the maternal-->paternal imprint switch during, male gametogenesis. Imprinting involves differential DNA methylation, which appears to be instrumental in the regulation of gene activity and can be used for diagnostic purposes.
Horsthemke
B
B
Institut für Humangenetik, Universität Klinikum Essen, Germany.
D017204:Angelman Syndrome / Q000235:genetics*; D002843:Chromatin / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000502:physiology*; D019175:DNA Methylation; D017353:Gene Deletion; D006801:Humans; D007173:Imprinting, Psychological / Q000502:physiology*; D009154:Mutation / Q000235:genetics; D011218:Prader-Willi Syndrome / Q000235:genetics*
D002843:Chromatin