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Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

Nature Genetics volume 14, pages 163–170 (1996)Cite this article

Abstract

Imprinting on human chromosome 15 is regulated by an imprinting centre, which has been mapped to a 100–kb region including exon 1 of SNRPN. From this region we have identified novel transcripts, which represent alternative transcripts of the SNRPN gene. The novel exons lack protein coding potential and are expressed from the paternal chromosome only. We have also identified intragenic deletions and a point mutation in patients who have Angelman or Prader–Willi syndrome due to a parental imprint switch failure. This suggests that imprint switching on human chromosome 15 may involve alternative SNRPN transcripts.

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Author notes

  1. Shinji Saitoh

    Present address: Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan

Authors and Affiliations

  1. Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstrasse 55, D-45122, Essen, Germany

    Bärbel Dittrich, Karin Buiting & Bernhard Horsthemke

  2. Deutsches Krebsforschungszen-trum, Heidelberg, Germany

    Bernd Korn & Annemarie Poustka

  3. Institute of Child Health, London, UK

    Sarah Rickard & Jessica Buxton

  4. Department of Genetics, Case Western Reserve University and Center for Human Genetics, University Hospitals of Cleveland, Cleveland, Ohio, USA

    Shinji Saitoh & Robert D. Nicholls

  5. Kinderklinik, Universität Mainz, Mainz, Germany

    Andreas Winterpacht & Bernhard Zabel

Authors
  1. Bärbel Dittrich
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  2. Karin Buiting
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  3. Bernd Korn
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  4. Sarah Rickard
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  5. Jessica Buxton
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  6. Shinji Saitoh
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  7. Robert D. Nicholls
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  11. Bernhard Horsthemke
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Correspondence to Bernhard Horsthemke.

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Dittrich, B., Buiting, K., Korn, B. et al. Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet 14, 163–170 (1996). https://doi.org/10.1038/ng1096-163

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