The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients

Hum Genet. 2006 Sep;120(2):293-6. doi: 10.1007/s00439-006-0211-4. Epub 2006 Jun 17.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Arylamine N-Acetyltransferase / deficiency
  • Arylamine N-Acetyltransferase / genetics*
  • Cell Fusion
  • Cell Line, Tumor
  • Cells, Cultured
  • Chromosomes, Human, Pair 8*
  • Fibroblasts / metabolism*
  • Genetic Complementation Test
  • Humans
  • Hybrid Cells
  • Mucopolysaccharidosis III / genetics*
  • Rats
  • Skin / cytology*

Substances

  • Arylamine N-Acetyltransferase

Associated data

  • OMIM/252900
  • OMIM/252920
  • OMIM/252930
  • OMIM/252940