Genetic complementation after fusion of Tay-Sachs and Sandhoff cells

George H. Thomas; Harold A. Taylor; Carol S. Miller; Joyce Axelman; Barbara R. Migeon

doi:10.1038/250580a0

Genetic complementation after fusion of Tay-Sachs and Sandhoff cells

George H. Thomas, Harold A. Taylor, Carol S. Miller, Joyce Axelman, Barbara R. Migeon

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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 versa^4,5 (2) in Tay-Sachs disease only Hex A activity is deficient, accompanied by an increase in Hex B activity in certain tissues^1,6, and (3) both Hex A and Hex B activities are missing in Sandhoff disease, another autosomal recessive disorder⁷. But in spite of several theories ^8-11, 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.

Original language	English (US)
Pages (from-to)	580-582
Number of pages	3
Journal	Nature
Volume	250
Issue number	5467
DOIs	https://doi.org/10.1038/250580a0
State	Published - 1974
Externally published	Yes

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title = "Genetic complementation after fusion of Tay-Sachs and Sandhoff cells",

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 theories 8-11, 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.",

author = "Thomas, {George H.} and Taylor, {Harold A.} and Miller, {Carol S.} and Joyce Axelman and Migeon, {Barbara R.}",

year = "1974",

doi = "10.1038/250580a0",

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T1 - Genetic complementation after fusion of Tay-Sachs and Sandhoff cells

AU - Thomas, George H.

AU - Taylor, Harold A.

AU - Miller, Carol S.

AU - Axelman, Joyce

AU - Migeon, Barbara R.

PY - 1974

Y1 - 1974

N2 - 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 theories 8-11, 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.

AB - 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 theories 8-11, 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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Genetic complementation after fusion of Tay-Sachs and Sandhoff cells

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