A new human gene (DXS1357E) with ubiquitous expression, located in Xq28 adjacent to the adrenoleukodystrophy gene
Abstract
We have isolated a new human gene (DXS1357E; laboratory name: CDM) localized in Xq28. This gene is transcribed from the same CpG island as the adrenoleukodystrophy gene (ALD) and oriented in the opposite direction. It encodes a 1.5-kb transcript that exhibits ubiquitous expression and contains a single open reading frame. The 246 deduced amino acid sequence suggests the presence of membrane-associated segments and a weak similarity with the rod-like tail portion of heavy chain myosins from different species. The DXS1357E gene may be a candidate for one of the many diseases mapping to this region. A preliminary analysis did not show rearrangements of the gene in 19 independent patients with Emery-Dreifuss muscular dystrophy.
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Combined deletion or dysfunction of both ABCD1 and BCAP31 causes contiguous ABCD1 DXS1357E deletion syndrome (CADDS).
“The combined deletion or dysfunction of both ABCD1 and BCAP31 (initial name DXS1375E [32]) causes contiguous ABCD1 DXS1357E deletion syndrome (CADDS).”
From Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy (2022) · cites this paper as [32]
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Mallack, E. J., Gao, K., Engelen, M., & Kemp, S. (2022) · Cells · doi:10.3390/cells11020283 · Cited by 60 · see citing works
“The combined deletion or dysfunction of both ABCD1 and BCAP31 (initial name DXS1375E [32]) causes contiguous ABCD1 DXS1357E deletion syndrome (CADDS).”
Background
- Authors
- Mosser, J., Sarde, C.-O., Vicaire, S., Yates, J. R. W., & Mandel, J.-L.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Venue
- Genomics
- Publisher
- Elsevier BV
- Published
- 1994-07
- Volume
- 22
- Issue
- 2
- Pages
- 469-471
- ISSN
- 0888-7543 (ISSN-L)
- OpenAlex
- W2069272922
- Cited by
- 27
- References
- 0
- Citations by year
- 2025: 2 · 2024: 1 · 2022: 2 · 2021: 1 · 2020: 1 · 2017: 1 · 2013: 1 · 2012: 1
- FWCI
- 0.63
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Genomics (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- Xq28, gene isolation, CpG islands, Emery-Dreifuss muscular dystrophy, gene orientation
- MeSH terms
- Adrenoleukodystrophy, Amino Acid Sequence, Base Sequence, Chromosome Mapping, Genes, Humans, Membrane Proteins, Molecular Sequence Data, Proteins, Protein Biosynthesis, X Chromosome, Gene Expression, Open Reading Frames, Sequence Homology, Amino Acid, DNA, Complementary
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