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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer-Verlag

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DOI

10.1016/0090-8258(88)90196-5

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1432-1203

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The microcellmediated transfer of human chromosom

Authors: Volkan Seyrantepe Frédérique Tihy Alexey V Pshezhetsky
Publish Date: 2006/06/17
Volume: 120, Issue: 2, Pages: 293-296
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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 acetylcoenzyme A αglucosaminideNacetylytransferase activity in the cultured cells of MPS IIIC patients by functional complementation via microcellmediated chromosome transfer The introduction of the target human monochromosome completely restored the activity confirming functional localization of the candidate gene on human chromosome 8We thank Dr Eric A Shoubridge and Dr Isle Ogilvie for the help in MTCC studies We also thank Dr Andrei Verner and the genotyping facilities of Genome Quebec and McGill University Innovation Center for the assistance in performing the genotyping studies We thank Manon Baril and Louise L’Écuyer for their technical assistance and Dr Emmanuel Lemyre for helpful comments VS is a recipient of a postdoctoral fellowship from SainteJustine Hospital Research Center and AVP is a National Investigator of FRSQ This study has been partially supported by an operating grant from the Sanfilippo Children’s Research Foundation to AVP

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