Huntington disease-linked locus D4S111 exposed as the α-l-iduronidase gene

Marcy E. MacDonald, Hamish S. Scott, William L. Whaley, Thomas Pohl, John J. Wasmuth, Hans Lehrach, C. Phillip Morris, Anne Marie Frischauf, John J. Hopwood, James F. Gusella

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36 Citations (Scopus)

Abstract

α-l-Iduronidase (IDUA) has been intensively studied due to its causative role in mucopolysaccharidosis type I (Hurler, Scheie and Hurler/Scheie syndromes). The recent cloning of a human IDUA cDNA has resulted in a reevaluation of the chromosomal location of this gene. Previously assigned to chromosome 22, IDUA now has been localized to 4p16.3, the region of chromosome 4 associated with Huntington's disease (HD). The existence of a battery of cloned DNA, physical map information, and genetic polymorphism data for this region has allowed the rapid fine mapping of IDUA within the terminal cytogenetic band of 4p. IDUA was found to be coincident with D4S111, an anonymous locus displaying a highly informative multiallele DNA polymorphism. This map location, 1.1×106 bp from the telomere, makes IDUA the most distal cloned gene assigned to 4p. However, it falls within a segment of 4p16.3 that has been eliminated from the HD candidate region, excluding a role for IDUA in this disorder.

Original languageEnglish
Pages (from-to)421-425
Number of pages5
JournalSomatic Cell and Molecular Genetics
Volume17
Issue number4
DOIs
Publication statusPublished or Issued - Jul 1991
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Cell Biology

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