Structure and Location of the Murine Adrenoleukodystrophy Gene

Kennedy, Martin A.; Rowland, Shelley A.; Miller, Allison L.; Morris, Christine M.; Neville, Louise A.; Dodd, Andrew; Fifield, Wendy J.; Love, Donald R.

doi:10.1006/geno.1996.0134

Cited by 8 publications

(4 citation statements)

References 3 publications

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“…The ALDR gene is composed of 10 exons and 9 introns of highly variable size. This structure mirrors exactly that of the human and mouse ALD genes 17,18 with a perfect conservation of positions of splice sites (Figure 1b). The size of the coding sequence in exons 2-10 is quite homogeneous, whilst the first exon encodes 313 amino acids (42% of the whole protein) and contains four out of the six predicted transmembrane segments (Figure 1B).…”

supporting

confidence: 67%

Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP)

et al. 1998

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ALDR is one of the four genes encoding an ATP Binding Cassette (ABC) hemitransporter of the peroxisomal membrane so far identified in mammalian cells. The best known of these is X-ALD, whose dysfunction has been causally associated with X-linked adrenoleukodystrophy. ALDR and X-ALD protein product are closely related and we show here that this striking conservation is maintained at the genomic level. Although extending to a larger genomic region, the organisation of the mouse ALDR gene mirrors exactly that of X-ALD. This supports further the hypothesis that among the four known peroxisomal ABC hemi-transporters ALDRP is the most likely candidate as a modifier contributing to the phenotypic variability of X-linked adrenoleukodystrophy.

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supporting

confidence: 67%

Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP)

et al. 1998

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“…Besides, a recent study aiming to obtain mutant BV-2 cells for the Trem2 gene also faced with triallelic mutations associated with cell multinuclearity and aneuploidy including trisomy of chromosome 17 [26]. Moreover, while Abcd1 is located on the X chromosome [27], Abcd2 is on the chromosome 15 [28], a chromosome whose trisomy is frequently found in murine cell lines, probably due to the location of c-myc [29].…”

Section: Crispr-cas9 Knockout Of Abcd1 and Abcd2 In Bv-2 Cellsmentioning

confidence: 99%

CRISPR/Cas9-mediated knockout of Abcd1 and Abcd2 genes in BV-2 cells: novel microglial models for X-linked Adrenoleukodystrophy

Raas

Gondcaille

Hamon

et al. 2019

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biolog

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“…The resulting construct, containing full-length mouse X-ALD cDNA, was then in vitro transcribed by T7 RNA polymerase (Ambion, Austin, TX) in the presence of [␣-32 p]UTP (Amersham) and used as a probe. A phage clone (4-1) with a 13-kb insert containing exons 1-4 of the mouse X-ALD gene (35) was isolated. Fluorescence in situ hybridization was performed to confirm its location on the X chromosome (data not shown).…”

mentioning

confidence: 99%