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Title: Structure and location of the murine adrenoleukodystrophy gene

Abstract

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.

Authors:
 [1]; ;  [2]
  1. Christchurch School of Medicine (New Zealand)
  2. Univ. of Auckland (New Zealand); and others
Publication Date:
OSTI Identifier:
459006
Resource Type:
Journal Article
Journal Name:
Genomics
Additional Journal Information:
Journal Volume: 32; Journal Issue: 3; Other Information: PBD: 5 Mar 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, 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

Citation Formats

Kennedy, M A, Rowland, S A, and Dodd, A. Structure and location of the murine adrenoleukodystrophy gene. United States: N. p., 1996. Web. doi:10.1006/geno.1996.0134.
Kennedy, M A, Rowland, S A, & Dodd, A. Structure and location of the murine adrenoleukodystrophy gene. United States. https://doi.org/10.1006/geno.1996.0134
Kennedy, M A, Rowland, S A, and Dodd, A. 1996. "Structure and location of the murine adrenoleukodystrophy gene". United States. https://doi.org/10.1006/geno.1996.0134.
@article{osti_459006,
title = {Structure and location of the murine adrenoleukodystrophy gene},
author = {Kennedy, M A and Rowland, S A and Dodd, A},
abstractNote = {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.},
doi = {10.1006/geno.1996.0134},
url = {https://www.osti.gov/biblio/459006}, journal = {Genomics},
number = 3,
volume = 32,
place = {United States},
year = {Tue Mar 05 00:00:00 EST 1996},
month = {Tue Mar 05 00:00:00 EST 1996}
}