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Genetic complementation after fusion of Tay-Sachs and Sandhoff cells

Nature volume 250, pages 580–582 (1974)Cite this article

Abstract

THE N-acetyl-β-D-glucosaminidase (hexosaminidase) activity in cultured human fibroblasts consists of at least three components (A, B and C)1–3. At least two of these (designated Hex A and Hex B) seem to be closely related, for (1) antiserum against Hex A reacts against Hex B, and vice versa4,5 (2) in Tay-Sachs disease only Hex A activity is deficient, accompanied by an increase in Hex B activity in certain tissues1,6, and (3) both Hex A and Hex B activities are missing in Sandhoff disease, another autosomal recessive disorder7. But in spite of several theories8–11, the precise relationship between these components remains unknown, as does the nature of the genetic and biochemical relationships between the two diseases. To investigate these questions we have fused Tay-Sachs with Sandhoff fibroblasts and obtained cultures containing heterokaryons which produce a hexosaminidase which is absent from the parent lines. It has the electrophoretic and heat lability characteristics of the Hex A found in normal fibroblasts.

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Authors and Affiliations

  1. Department of Pediatrics, Johns Hopkins University School of Medicine,

    GEORGE H. THOMAS, HAROLD A. TAYLOR JUN., CAROL S. MILLER, JOYCE AXELMAN & BARBARA R. MIGEON

  2. The John F. Kennedy Institute, Baltimore, Maryland, 21205

    GEORGE H. THOMAS, HAROLD A. TAYLOR JUN., CAROL S. MILLER, JOYCE AXELMAN & BARBARA R. MIGEON

Authors
  1. GEORGE H. THOMAS
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  2. HAROLD A. TAYLOR JUN.
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  5. BARBARA R. MIGEON
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THOMAS, G., TAYLOR, H., MILLER, C. et al. Genetic complementation after fusion of Tay-Sachs and Sandhoff cells. Nature 250, 580–582 (1974). https://doi.org/10.1038/250580a0

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