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Imprinting defects on human chromosome 15.

B Horsthemke1, K Buiting

  • 1Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany. b.horsthemke@uni-essen.de

Cytogenetic and Genome Research
|April 1, 2006
PubMed
Summary

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) result from faulty chromosome 15 gene imprinting. Aberrant imprinting, sometimes due to imprinting center microdeletions, offers insights into gene regulation mechanisms.

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Area of Science:

  • Genetics
  • Neurogenetics
  • Epigenetics

Background:

  • Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurogenetic disorders.
  • Both PWS and AS arise from the loss of function of imprinted genes on chromosome 15.
  • A subset of PWS and AS cases result from aberrant imprinting and gene silencing.

Purpose of the Study:

  • To investigate the mechanisms underlying imprinting defects in PWS and AS.
  • To identify factors involved in imprint erasure, resetting, and maintenance.
  • To characterize the role of the 15q imprinting center (IC) in regulating gene imprinting.

Main Methods:

  • Analysis of imprinting defects in patients with PWS and AS.
  • Identification of microdeletions within the SNURF-SNRPN locus.
  • Confirmation and extension of findings in mouse models (knock-out and transgenic).

Main Results:

  • Imprinting defects in PWS involve a maternal imprint on the paternal chromosome.
  • Imprinting defects in AS involve a paternal imprint on the maternal chromosome.
  • Microdeletions at the 5' end of the SNURF-SNRPN locus define the 15q imprinting center (IC) in ~10% of imprinting defect cases.
  • The majority of imprinting defects occur without DNA sequence changes, suggesting stochastic errors or environmental factors.

Conclusions:

  • Imprinting defects in PWS and AS provide a model for studying epigenetic regulation.
  • The 15q imprinting center (IC) is crucial for regulating imprinted gene domains.
  • Further research is needed to elucidate the causes of imprinting defects occurring without DNA sequence alterations.

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