Correction of mucolipidosis III in vitro by gene transfer

M. L. Fowler, Yao-Shan Fan, O. T. Mueller, W. M. Henry, T. B. Shows

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Mucolipidosis II (ML II, I-cell disease) and mucolipidosis III (ML III, pseudo-Hurler polydystrophy) are human autosomal recessive genetic disorders resulting from deficient UDP-N-acetylglucosamine:lysosomal enzyme precursor N-acetylglucosamine-1-phosphotransferase (GNPT) activity. Normally, this enzyme is involved in the processing of most lysosomal enzymes. Cultured fibroblasts from individuals with either disorder are deficient in a broad array of lysosomal enzymes as a result of the diminished GNPT activity. We report the correction of this phenotype by fusing transformed ML III cells generated for this study to lethally irradiated rodent cells. This method of gene transfer does not require selection for the gene of interest, animal models, nor any knowledge of the gene product except a screening method for its presence. It has generated corrected cell hybrids that contain approximately 1% hamster-derived sequences. These cell lines, which contain the hamster analogue to the human phosphotransferase gene, are useful for the molecular cloning of the gene defective in ML II and ML III.

Original languageEnglish
Pages (from-to)236-243
Number of pages8
JournalGenomics
Volume18
Issue number2
DOIs
StatePublished - Jan 1 1993
Externally publishedYes

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Mucolipidoses
Genes
Cricetinae
Enzymes
Uridine Diphosphate N-Acetylglucosamine
Inborn Genetic Diseases
Enzyme Precursors
Hybrid Cells
Molecular Cloning
Rodentia
Phosphotransferases
Animal Models
Fibroblasts
In Vitro Techniques
Phenotype
Cell Line

ASJC Scopus subject areas

  • Genetics

Cite this

Fowler, M. L., Fan, Y-S., Mueller, O. T., Henry, W. M., & Shows, T. B. (1993). Correction of mucolipidosis III in vitro by gene transfer. Genomics, 18(2), 236-243. https://doi.org/10.1006/geno.1993.1461

Correction of mucolipidosis III in vitro by gene transfer. / Fowler, M. L.; Fan, Yao-Shan; Mueller, O. T.; Henry, W. M.; Shows, T. B.

In: Genomics, Vol. 18, No. 2, 01.01.1993, p. 236-243.

Research output: Contribution to journalArticle

Fowler, ML, Fan, Y-S, Mueller, OT, Henry, WM & Shows, TB 1993, 'Correction of mucolipidosis III in vitro by gene transfer', Genomics, vol. 18, no. 2, pp. 236-243. https://doi.org/10.1006/geno.1993.1461
Fowler, M. L. ; Fan, Yao-Shan ; Mueller, O. T. ; Henry, W. M. ; Shows, T. B. / Correction of mucolipidosis III in vitro by gene transfer. In: Genomics. 1993 ; Vol. 18, No. 2. pp. 236-243.
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