The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients |
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| Authors: | Volkan Seyrantepe Frédérique Tihy Alexey V Pshezhetsky |
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| Institution: | 1. Sainte-Justine Hospital Research Center, University of Montreal, 3175 C?te Ste-Catherine Road, Montreal, QC, Canada, H3T 1C5
2. Department of Pediatrics and Biochemistry, Faculty of Medicine, University of Montreal, Montreal, QC, Canada
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| Abstract: | The candidate gene for Mucopolysaccharidosis (MPS) type IIIC has been localized to the pericentric region of the chromosome 8 by the linkage disequilibrium analysis. To validate the localization of the gene, we rescued the deficient acetyl-coenzyme A: alpha-glucosaminide-N-acetylytransferase activity in the cultured cells of MPS IIIC patients by functional complementation via microcell-mediated chromosome transfer. The introduction of the target human monochromosome completely restored the activity confirming functional localization of the candidate gene on human chromosome 8. |
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