The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients.
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.
Seyrantepe
Volkan
V
Sainte-Justine Hospital Research Center, University of Montreal, 3175 Côte Ste-Catherine Road, Montreal, QC, Canada. volkan.seyrantepe@recherche-ste-justine.qc.ca
Tihy
Frédérique
F
Pshezhetsky
Alexey V
AV
D000818:Animals; D001191:Arylamine N-Acetyltransferase / Q000172:deficiency / Q000235:genetics*; D002459:Cell Fusion; D045744:Cell Line, Tumor; D002478:Cells, Cultured; D002898:Chromosomes, Human, Pair 8; D005347:Fibroblasts / Q000378:metabolism*; D005816:Genetic Complementation Test; D006801:Humans; D006822:Hybrid Cells; D009084:Mucopolysaccharidosis III / Q000235:genetics*; D051381:Rats; D012867:Skin / Q000166:cytology*
D001191:Arylamine N-Acetyltransferase