Mechanisms of imprinting of the Prader-Willi/Angelman region.

  title={Mechanisms of imprinting of the Prader-Willi/Angelman region.},
  author={Bernhard Horsthemke and Joseph Wagstaff},
  journal={American journal of medical genetics. Part A},
  volume={146A 16},
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurodevelopmental disorders, each caused by several genetic and epigenetic mechanisms involving the proximal long arm of chromosome 15. Lack of a functional paternal copy of 15q11-q13 causes PWS; lack of a functional maternal copy of UBE3A, a gene within 15q11-q13, causes AS. This region of chromosome 15 contains a number of imprinted genes that are coordinately regulated by an imprinting center (PWS/AS-IC) that contains… CONTINUE READING
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