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, Vol. 32, Issue 3; Other Information: PBD: 5 Mar 1996
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
GENES
STRUCTURE-ACTIVITY RELATIONSHIPS
GENETIC MAPPING
DNA-CLONING
DNA SEQUENCING
TRANSCRIPTION
BIOLOGICAL EVOLUTION
X CHROMOSOME
NERVOUS SYSTEM DISEASES
GENETICS
BIOLOGICAL MODELS
CARBOXYLIC ACIDS
METABOLISM
PLASMIDS
DESIGN
MALES
HEREDITARY DISEASES
PHENOTYPE
HUMAN X CHROMOSOME
MICE
AMINO ACID SEQUENCE
PROTEINS
DNA HYBRIDIZATION
FLUORESCENCE
POLYMERASE CHAIN REACTION