Sequence of the human iduronate 2-sulfatase (IDS) gene
- Adelaide Children's Hospital, North Adelaide (Australia)
Deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS; EC 3.1.6.13) results in the storage of the glycosaminoglycans heparan sulfate and dermatan sulfate, which leads to the lysosomal storage disorder mucopolysaccharidosis type II. Three overlapping genomic clones derived from an X-chromosome-specific library containing the entire IDS gene were isolated and the sequences of the intron boundaries and the 5[prime] promoter region were determined. The IDS gene is split into nine exons spanning approximately 24 kb. The potential promoter for IDS lacks a TATA box but contains GC box consensus sequences, consistent with its role as a housekeeping gene. A polypyrimidine-like repeat is found in intron 1. 9 refs., 1 fig., 1 tab.
- OSTI ID:
- 7160489
- Journal Information:
- Genomics; (United States), Journal Name: Genomics; (United States) Vol. 17:3; ISSN GNMCEP; ISSN 0888-7543
- Country of Publication:
- United States
- Language:
- English
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59 BASIC BIOLOGICAL SCIENCES
AMINES
CARBOHYDRATES
CHROMOSOMES
DISEASES
DNA SEQUENCING
ENZYMES
GENES
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
HUMAN X CHROMOSOME
METABOLIC DISEASES
MUCOPOLYSACCHARIDES
ORGANIC COMPOUNDS
POLYSACCHARIDES
PROTEINS
SACCHARIDES
STRUCTURAL CHEMICAL ANALYSIS
X CHROMOSOME