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Imprinted genes in the Prader-Willi deletion

U Francke1

  • 1Department of Genetics, Beckman Center for Molecular and Genetic Medicine, CA 94305-5323, USA.

Novartis Foundation Symposium
|May 27, 1998
PubMed
Summary

Prader-Willi syndrome (PWS) arises from paternal deletions on chromosome 15q, impacting multiple genes. A newly identified gene, IPW, is paternally expressed and crucial for PWS, potentially functioning as an untranslated RNA.

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Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Genomic Imprinting

Background:

  • Prader-Willi syndrome (PWS) and Angelman syndrome result from parent-of-origin deletions on chromosome 15q.
  • PWS is caused by paternal deletions or maternal uniparental disomy, leading to the loss of paternally expressed genes.
  • SNRPN, a gene silenced in PWS, is involved in brain spliceosome function.

Purpose of the Study:

  • To identify additional imprinted genes within the PWS critical region.
  • To investigate the role of these genes in the pathogenesis of Prader-Willi syndrome.

Main Methods:

  • Systematic search for imprinted genes in the PWS region.
  • Analysis of gene expression patterns in PWS.
  • Comparative genomic analysis between human and mouse.

Main Results:

  • Discovery of a paternally expressed transcript, IPW (imprinted in the Prader-Willi region).
  • Identification of a conserved mouse homologue, Ipw, highly expressed in the brain.
  • IPW and Ipw lack conserved open reading frames, suggesting a role as untranslated RNAs.

Conclusions:

  • IPW is a novel imprinted gene in the PWS region, consistently silenced in PWS.
  • IPW and Ipw may function as non-coding RNAs regulating gene expression in cis.
  • These findings contribute to understanding the molecular mechanisms underlying Prader-Willi syndrome.

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