Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.

Literature DB >> 1832239

Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.

M E MacDonald¹, H S Scott, W L Whaley, T Pohl, J J Wasmuth, H Lehrach, C P Morris, A M Frischauf, J J Hopwood, J F Gusella.

Abstract

alpha-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 X 10(6) 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.

Entities: Disease Gene Species

Mesh：

Substances：
Iduronidase

Year: 1991 PMID： 1832239 DOI： 10.1007/bf01233067

Source DB: PubMed Journal: Somat Cell Mol Genet ISSN： 0740-7750

Keyword Cloud
Cited

10 in total

1. PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease.

Authors: H S Scott; P V Nelson; J J Hopwood; C P Morris
Journal: Nucleic Acids Res Date: 1991-11-25 Impact factor: 16.971

2. PCR of a KpnI RFLP in the alpha-L-iduronidase (IDUA) gene.

Authors: H S Scott; P V Nelson; J J Hopwood; C P Morris
Journal: Nucleic Acids Res Date: 1991-10-25 Impact factor: 16.971

Review 3. Toward the complete genomic map and molecular pathology of human chromosome 4.

Authors: O Riess; B Winkelmann; J T Epplen
Journal: Hum Genet Date: 1994-07 Impact factor: 4.132

4. Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes.

Authors: T Koizumi; M MacDonald; M Búcan; J J Hopwood; C P Morris; H S Scott; J F Gusella; J H Nadeau
Journal: Mamm Genome Date: 1992 Impact factor: 2.957

Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.

1. PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease.

2. PCR of a KpnI RFLP in the alpha-L-iduronidase (IDUA) gene.

Review 3. Toward the complete genomic map and molecular pathology of human chromosome 4.

4. Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes.

5. Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome.

6. Human alpha-L-iduronidase: cDNA isolation and expression.

7. Isolation and characterization of new highly polymorphic DNA markers from the Huntington disease region.

8. Synteny conservation of the Huntington's disease gene and surrounding loci on mouse Chromosome 5.

9. PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene.

10. Omics approaches to individual variation: modeling networks and the virtual patient.