Interspecific genetic complementation analysis of human and sheep fibroblasts with beta-galactosidase deficiency.
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| Abstract |
Interspecific somatic cell hybrids were analyzed by genetic complementation to determine if a lysosomal storage disease in sheep associated with deficiencies of beta-galactosidase and alpha-neuraminidase was homologous with any of four beta-galactosidase-deficient human diseases. Fibroblasts from beta-galactosidase-deficient sheep, cats, and human patients were fused and assayed histochemically for beta-galactosidase, with 5-bromo-4-chloro-3-indolyl beta-D-galactoside. We observed complementation in heterokaryons consisting of fibroblasts from beta-galactosidase-deficient sheep and fibroblasts from patients with galactosialidosis or mucolipidosis type II, but no complementation in heterokaryons consisting of fibroblasts from beta-galactosidase-deficient sheep and fibroblasts from human or feline GM1 gangliosidosis (type I) or from human mucopolysaccharidosis type IVB fibroblasts. We conclude that the ovine disease is due to a mutation at the genetic locus homologous with that of GM1 gangliosidosis and mucopolysaccharidosis type IVB, suggesting that the primary defect in the ovine disease is a mutation of the beta-galactosidase structural gene.
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| Authors | A J Ahern-Rindell, R D Murnane, D J Prieur |
| Journal | Somatic cell and molecular genetics (Somat Cell Mol Genet) Vol. 15 Issue 6 Pg. 525-33 (Nov 1989) ISSN: 0740-7750 [Print] United States |
| PMID | 2512653 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.) |
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