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Allele specificity of DNA replication timing in the Angelman/Prader–Willi syndrome imprinted chromosomal region

Nature Genetics volume 6, pages 41–46 (1994)Cite this article

Abstract

DNA replication within chromosome 15q11–q13, a region subject to genomic imprinting, was examined by fluorescence in situ hybridization. Asynchronous replication between homologues was observed in cells from normal individuals and in Prader–Willi (PWS) and Angelman syndrome (AS) patients with chromosome 15 deletions but not in PWS patients with maternal uniparental disomy. Opposite patterns of allele–specific replication timing between homologous loci were observed; paternal early/maternal late at D15S63, D15S10 and the γ–aminobutyric acid receptor β3 subunit gene (GABRB3); and maternal early/paternal late at the more distal γ–aminobutyric acid receptor α5 subunit gene (GABRA5). At the most distal locus examined, D15S12, both patterns of allele–specific replication timing were detected.

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Authors and Affiliations

  1. Division of Genetics, Children's Hospital/Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA

    Joan H.M. Knoll, Sou-De Cheng & Marc Lalande

  2. Department of Pathology, Beth Israel Hospital YA309, 330 Brookline Avenue, Boston, Massachusetts, 02215, USA

    Joan H.M. Knoll

  3. Howard Hughes Medical Institute, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA

    Marc Lalande

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  2. Sou-De Cheng
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  3. Marc Lalande
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Knoll, J., Cheng, SD. & Lalande, M. Allele specificity of DNA replication timing in the Angelman/Prader–Willi syndrome imprinted chromosomal region. Nat Genet 6, 41–46 (1994). https://doi.org/10.1038/ng0194-41

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