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Huntington disease-linked locusD4S111 exposed as the α-l-iduronidase gene

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Somatic Cell and Molecular Genetics

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.

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Authors and Affiliations

  1. Neurogenetics Laboratory, Massachusetts General Hospital and Department of Genetics, Harvard Medical School, 02114, Boston, Massachusetts

    Marcy E. MacDonald, William L. Whaley & James F. Gusella

  2. Lysosomal Diseases Research Unit, Department of Chemical Pathology, Adelaide Children's Hospital, 5006, North Adelaide, S.A., Australia

    Hamish S. Scott, C. Phillip Morris & John J. Hopwood

  3. EMBL, P.O. Box 1022.40, D6900, Heildelberg, Germany

    Thomas Pohl

  4. Department of Biological Chemistry, University of California, 92717, Irvine, California

    John J. Wasmuth

  5. Imperial Cancer Research Fund, Lincoln's Inn Fields, WC2A 3PX, London, UK

    Hans Lehrach & Anne-Marie Frischauf

Authors
  1. Marcy E. MacDonald
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  2. Hamish S. Scott
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  3. William L. Whaley
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  4. Thomas Pohl
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  5. John J. Wasmuth
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  6. Hans Lehrach
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  7. C. Phillip Morris
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  8. Anne-Marie Frischauf
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  9. John J. Hopwood
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  10. James F. Gusella
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MacDonald, M.E., Scott, H.S., Whaley, W.L. et al. Huntington disease-linked locusD4S111 exposed as the α-l-iduronidase gene. Somat Cell Mol Genet 17, 421–425 (1991). https://doi.org/10.1007/BF01233067

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  • DOI: https://doi.org/10.1007/BF01233067

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