Structure and location of the murine adrenoleukodystrophy gene
- Christchurch School of Medicine (New Zealand)
- Univ. of Auckland (New Zealand); and others
X-linked adrenoleukodystrophy (ALD) is a degenerative neurological disease characterized by the accumulation of very long chain fatty acids in various tissues and demyelination of the central nervous system. The human gene responsible for the disease encodes a membrane-bound ATP-binding transporter protein that is located in peroxisomes. We isolated the mouse adrenoleukodystrophy gene, determined its structure, and mapped it both cytogentically and genetically. The mouse gene is very similar in structure to the human gene, consisting of 10 exons arranged over a 22-kb genomic region. We localized it in band B of the mouse X chromosome by fluorescence in situ hybridization analysis and, using a new microsatellite repeat polymorphism, determined the map location as 47 cM from the X centromere. We found evidence for other sequences in the mouse genome related to the 3{prime} end of Aldgh. This study paves the way for the construction of gene-targeting plasmids that may be used to develop an animal model of ALD. 35 refs., 5 figs.
- OSTI ID:
- 459006
- Journal Information:
- Genomics, Journal Name: Genomics Journal Issue: 3 Vol. 32; ISSN 0888-7543; ISSN GNMCEP
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
AMINO ACID SEQUENCE
BIOLOGICAL EVOLUTION
BIOLOGICAL MODELS
CARBOXYLIC ACIDS
DESIGN
DNA HYBRIDIZATION
DNA SEQUENCING
DNA-CLONING
FLUORESCENCE
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN X CHROMOSOME
MALES
METABOLISM
MICE
NERVOUS SYSTEM DISEASES
PHENOTYPE
PLASMIDS
POLYMERASE CHAIN REACTION
PROTEINS
STRUCTURE-ACTIVITY RELATIONSHIPS
TRANSCRIPTION
X CHROMOSOME