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Molecular definition of the Prader — Willi syndrome chromosome region and orientation of the SNRPN gene

Bulting, Karin ; Dlttrich, Bärbel ; Groß, Stephanle ; Greger, Valerle ; Lalande, Marc ; Robinson, Wendy ; Mutirangura, Apiwat ; Ledbetter, David ; Horsthemke, Bernhard

In: Human Molecular Genetics, 1993, vol. 2, no. 12, p. 1991-1994

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    Titre
    • Molecular definition of the Prader — Willi syndrome chromosome region and orientation of the SNRPN gene
    Auteur
    • Bulting, Karin. Instrtut für Humangenetik, Universitatsksikum Essen, Hufelandstrasse 55, D-45122 Essen, Germany, Boston, MA, USA, Zürich, Switzerland, Houston, TX, USA
    • Dlttrich, Bärbel. Instrtut für Humangenetik, Universitatsksikum Essen, Hufelandstrasse 55, D-45122 Essen, Germany, Boston, MA, USA, Zürich, Switzerland, Houston, TX, USA
    • Groß, Stephanle. Instrtut für Humangenetik, Universitatsksikum Essen, Hufelandstrasse 55, D-45122 Essen, Germany, Boston, MA, USA, Zürich, Switzerland, Houston, TX, USA
    • Greger, Valerle. The Howard Hughes Institute and The Children's Hospital Boston, MA, USA
    • Lalande, Marc. The Howard Hughes Institute and The Children's Hospital Boston, MA, USA
    • Robinson, Wendy. Institut für Medizinische Genetik Zürich, Switzerland
    • Mutirangura, Apiwat. Baylor College of Medicine Houston, TX, USA
    • Ledbetter, David. Baylor College of Medicine Houston, TX, USA
    • Horsthemke, Bernhard. Instrtut für Humangenetik, Universitatsksikum Essen, Hufelandstrasse 55, D-45122 Essen, Germany, Boston, MA, USA, Zürich, Switzerland, Houston, TX, USA
    Type de document
    • Postprint
    Langue
    • Anglais
    Publié dans
    • Human Molecular Genetics, 1993, vol. 2, no. 12, p. 1991-1994. Oxford University Press
    Autre version électronique
    Identifiant OAI-PMH
    • oai:doc.rero.ch:298597
    Summary
    The Prader—Willi syndrome and the Angelman syndrome are caused by the loss of function of distinct but closely linked genes on human chromosome 15. Based on a yeast artificial chromosome restriction map and two key patients we have determined that the shortest region of deletion overlap in the Prader—Willi syndrome comprises 320 kb. The region Includes the anonymous DNA marker PW71 (D15S63) and the gene for the small nuclear ribonucleoprotein N (SNRPN). The SNRPN gene maps 130 kb distal to PW71 and is transcribed from centromere to telomere