Structure and function of the human chromosome 15 imprinting center.

@article{Horsthemke1997StructureAF,
  title={Structure and function of the human chromosome 15 imprinting center.},
  author={Bernhard Horsthemke},
  journal={Journal of cellular physiology},
  year={1997},
  volume={173 2},
  pages={237-41}
}
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… CONTINUE READING