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Structure and function correlations at the imprinted mouse Snrpn locus

J M Gabriel1, T A Gray, L Stubbs

  • 1Department of Genetics, Case Western Reserve University School of Medicine and Center for Human Genetics, University Hospitals of Cleveland, 10900 Euclid Avenue, Cleveland, Ohio 44106-4955, USA.

Mammalian Genome : Official Journal of the International Mammalian Genome Society
|September 24, 1998
PubMed
Summary
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The human SNRPN gene, linked to Prader-Willi syndrome, shows conserved imprinting mechanisms with mouse Snrpn. DNA methylation in the Snrpn promoter is crucial for maintaining this imprinting.

Area of Science:

  • Genetics
  • Genomic Imprinting
  • Molecular Biology

Background:

  • The human SNRPN gene is located in the chromosomal region 15q11-q13, associated with Prader-Willi syndrome (PWS) and Angelman syndrome (AS).
  • SNRPN is a candidate gene for PWS due to its paternal-only expression and its role in the imprinting center that regulates allele-specific gene expression.
  • The imprinting center in 15q11-q13 is reset during spermatogenesis, influencing gene expression patterns in offspring.

Purpose of the Study:

  • To investigate the structural and functional conservation of the imprinted SNRPN locus between humans and mice.
  • To explore the role of DNA methylation in the establishment and maintenance of Snrpn imprinting in mice.
  • To determine if imprinting mechanisms for SNRPN are conserved across species.

Main Methods:

Related Experiment Videos

  • Comparative gene structure analysis of human SNRPN and murine Snrpn.
  • Characterization of the imprinted murine Snrpn locus on mouse Chromosome 7C.
  • Analysis of DNA methylation patterns at the Snrpn promoter in mouse embryonic stem cells and adult tissues.

Main Results:

  • The mouse Snrpn gene exhibits a highly conserved structure with the human SNRPN gene, featuring ten exons over 22 kb.
  • Differential methylation was observed at the Snrpn promoter in mouse cells, indicating its involvement in imprinting.
  • Conserved G-rich repeats in the first intron of both human and mouse genes may be implicated in establishing DNA methylation patterns.

Conclusions:

  • The structural and imprinted features of human SNRPN and mouse Snrpn are highly conserved.
  • DNA methylation at the Snrpn promoter plays a significant role in the somatic establishment and/or maintenance of imprinting.
  • Imprinting mechanisms governing the SNRPN/Snrpn locus are conserved between humans and mice.