Chromosomal Localization of the Adrenoleukodystrophy-Related Gene in Man and Mice
Abstract
We report here on the chromosomal mapping of the adrenoleukodystrophy-related (ALDR) gene on both the human and the mouse genomes. This gene encodes a peroxisomal ATP binding cassette transporter, closely related to the transporter identified as responsible for the adrenoleukodystrophy phenotype. ALDR maps on the syntenic region on murine and human autosomes. In addition, we could determine its position in relation to known microsatellite framework markers; this will allow to test its role in Zellweger syndrome and/ or related peroxisomal disorders.
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ALDRP is encoded by the ABCD2 gene, which is located on chromosome 12q11.12.
“The protein is encoded by the ABCD2 gene, which is located on chromosome 12q11.12[Savary et al., 1997].”
From ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) · cites this paper as Savary et al., 1997
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Kemp, S., Pujol, A., Waterham, H. R., van Geel, B. M., Boehm, C. D., Raymond, G. V., Cutting, G. R., Wanders, R. J. A., & Moser, H. W. (2001) · Human Mutation · doi:10.1002/humu.1227 · Cited by 332 · see citing works
Berger, J., Albet, S., Bentejac, M., Netik, A., Holzinger, A., Roscher, A. A., Bugaut, M., & Forss‐Petter, S. (1999) · European Journal of Biochemistry · doi:10.1046/j.1432-1327.1999.00772.x · Cited by 106 · see citing works
- Authors
- Savary, S., Troffer-Charlier, N., Gyapay, G., Mattei, M.-G., & Chimini, G.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Venue
- European Journal of Human Genetics
- Publisher
- Wiley
- Published
- 1997
- Volume
- 5
- Issue
- 2
- Pages
- 99-101
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- OpenAlex
- W4253687176
- Cited by
- 17
- References
- 0
- Citations by year
- 2019: 1 · 2018: 1 · 2013: 1
- FWCI
- 1.13
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- European Journal of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Keywords
- chromosome mapping, Zellweger syndrome, peroxisomal disorders, microsatellite markers, syntenic regions, human and mouse genomes
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Adrenoleukodystrophy, Animals, Chromosome Mapping, Chromosomes, Chromosomes, Human, Pair 12, Humans, Membrane Proteins, Proteins, Zellweger Syndrome, In Situ Hybridization, ATP-Binding Cassette Transporters, Peroxisomal Disorders, Mice
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