Am J Hum Genet. 1990 Nov;47(5):802-7.

Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3.

Scott HS, Ashton LJ, Eyre HJ, Baker E, Brooks DA, Callen DF, Sutherland GR, Morris CP, Hopwood JJ.

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Department of Chemical Pathology, Adelaide Children's Hospital, Australia.

Abstract

The lysosomal hydrolase alpha-L-iduronidase (IDUA) is one of the enzymes in the metabolic pathway responsible for the degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate. In humans a deficiency of IDUA leads to the accumulation of glycosaminoglycans, resulting in the lysosomal storage disorder mucopolysaccharidosis type I. A genomic subclone and a cDNA clone encoding human IDUA were used to localize IDUA to chromosome 4p16.3 by in situ hybridization and this was confirmed by Southern blot analysis. This localization is different from that of a previous report mapping IDUA to chromosome 22 and places the gene for IDUA in the same region of chromosome 4 as the Huntington disease gene. Measurement of expressed human IDUA activity in human-mouse hybrid cell lines confirmed that IDUA is on chromosome 4.

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PMCID:: PMC1683689

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Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. [Somat Cell Mol Genet. 1991]
Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.
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Cited by 6 PubMed Central articles

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Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3.

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