The gene coding for a sphingolipid activator protein,SAP-1, is on human chromosome 10 |
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Authors: | K. Inui F. T. Kao S. Fujibayashi C. Jones H. G. Morse M. L. Law D. A. Wenger |
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Affiliation: | (1) Department of Pediatrics, University of Colorado School of Medicine, 80262 Denver, CO, USA;(2) Eleanor Roosevelt Institute for Cancer Research, 80262 Denver, CO, USA;(3) Department of Biochemistry, Biophysics and Genetics, University of Colorado School of Medicine, 80262 Denver, CO, USA |
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Abstract: | Summary SAP-1 is a sphingolipid activator protein found in human tissues required for the enzymatic hydrolysis of GM1 ganglioside and sulfatide. It appears to be missing in patients who have a genetic lipidosis resembling juvenile metachromatic leukodystrophy. Using rabbit antibodies against human SAP-1 it could be visualized in extracts from cultured human skin fibroblasts after sodium dodecylsulfate-polyacrylamide gel electrophoresis, followed by electroblotting to nitrocellulose membrane and immunochemical staining (Western blotting). A series of 23 human-Chinese hamster ovary cell hybrids containing different human chromosomes were examined. The parent Chinese hamster ovary cells did not have a reacting protein in the region of human SAP-1. Only in the eight hybrid clones containing human chromosome 10 was a reacting protein identified. Other chromosomes were excluded by this method. Therefore the gene for SAP-1 and the genetic mutation resulting in a fatal lipidosis are located on human chromosome 10.Present address: Department of Pediatrics, Osaka University Medical School, Fukushima-Ku, Osaka, Japan |
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