Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader–Willi syndrome

@article{Runte2004ExclusionOT,
  title={Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader–Willi syndrome},
  author={M. Runte and R. Varon and D. Horn and B. Horsthemke and K. Buiting},
  journal={Human Genetics},
  year={2004},
  volume={116},
  pages={228-230}
}
  • M. Runte, R. Varon, +2 authors K. Buiting
  • Published 2004
  • Biology, Medicine
  • Human Genetics
  • Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurogenetic disorders caused by the loss of function of imprinted genes in 15q11–q13. The maternally expressed UBE3A gene is affected in AS. Four protein-encoding genes (MKRN3, MAGEL2, NDN and SNURF-SNRPN) and several small nucleolar (sno) RNA genes (HBII-13, HBII-436, HBII-85, HBII-438A, HBII-438B and HBII-52) are expressed from the paternal chromosome only but their contribution to PWS is unclear. To examine the role of the… CONTINUE READING

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