Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1993-02

AUTHORS

Jean Mosser, Anne-Marie Douar, Claude-Olivier Sarde, Petra Kioschis, Robert Feil, Hugo Moser, Anne-Marie Poustka, Jean-Louis Mandel, Patrick Aubourg

ABSTRACT

ADRENOLEUKODYSTROPHY (ALD) is an X-linked disease affecting 1/20,000 males either as cerebral ALD in childhood or as adrenomyeloneuropathy (AMN) in adults1. Childhood ALD is the more severe form, with onset of neurological symptoms between 5–12 years of age. Central nervous system demyelination progresses rapidly and death occurs within a few years. AMN is a milder form of the disease with onset at 15–30 years of age and a more progressive course. Adrenal insufficiency (Addison's disease) may remain the only clinical manifestation of ALD. The principal biochemical abnormality of ALD is the accumulation of very-long-chain fatty acids (VLCFA) because of impaired β-oxidation in peroxisomes1,2. The normal oxidation of VLCFA-CoA in patients' fibroblasts3–5 suggested that the gene coding for the VLCFA-CoA synthetase could be a candidate gene for ALD. Here we use positional cloning to identify a gene partially deleted in 6 of 85 independent patients with ALD. In familial cases, the deletions segregated with the disease. An identical deletion was detected in two brothers presenting with different clinical ALD phenotypes. Candidate exons were identified by computer analysis of genomic sequences6 and used to isolate complementary DNAs by exon connection7 and screening of cDNA libraries. The deduced protein sequence shows significant sequence identity to a peroxisomal membrane protein of Mr 70K that is involved in peroxisome biogenesis and belongs to the ‘ATP-binding cassette’ superfamily of transporters. More... »

PAGES

726-730

Journal

TITLE

Nature

ISSUE

6414

VOLUME

361

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/361726a0

DOI

http://dx.doi.org/10.1038/361726a0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1051671006

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/8441467


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40 schema:description ADRENOLEUKODYSTROPHY (ALD) is an X-linked disease affecting 1/20,000 males either as cerebral ALD in childhood or as adrenomyeloneuropathy (AMN) in adults1. Childhood ALD is the more severe form, with onset of neurological symptoms between 5–12 years of age. Central nervous system demyelination progresses rapidly and death occurs within a few years. AMN is a milder form of the disease with onset at 15–30 years of age and a more progressive course. Adrenal insufficiency (Addison's disease) may remain the only clinical manifestation of ALD. The principal biochemical abnormality of ALD is the accumulation of very-long-chain fatty acids (VLCFA) because of impaired β-oxidation in peroxisomes1,2. The normal oxidation of VLCFA-CoA in patients' fibroblasts3–5 suggested that the gene coding for the VLCFA-CoA synthetase could be a candidate gene for ALD. Here we use positional cloning to identify a gene partially deleted in 6 of 85 independent patients with ALD. In familial cases, the deletions segregated with the disease. An identical deletion was detected in two brothers presenting with different clinical ALD phenotypes. Candidate exons were identified by computer analysis of genomic sequences6 and used to isolate complementary DNAs by exon connection7 and screening of cDNA libraries. The deduced protein sequence shows significant sequence identity to a peroxisomal membrane protein of Mr 70K that is involved in peroxisome biogenesis and belongs to the ‘ATP-binding cassette’ superfamily of transporters.
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49 ALD phenotypes
50 AMN
51 ATP
52 Adults1
53 DNA
54 Mr 70K
55 VLCFA-CoA
56 VLCFA-CoA synthetase
57 abnormalities
58 accumulation
59 acid
60 adrenal insufficiency
61 adrenoleukodystrophy
62 adrenoleukodystrophy gene shares unexpected homology
63 age
64 analysis
65 biochemical abnormalities
66 biogenesis
67 brothers
68 cDNA library
69 candidate exons
70 candidate genes
71 cases
72 cassette
73 central nervous system demyelination
74 cerebral adrenoleukodystrophy
75 childhood
76 childhood adrenoleukodystrophy
77 clinical ALD phenotypes
78 clinical manifestations
79 cloning
80 complementary DNA
81 computer analysis
82 connection7
83 course
84 death
85 deduced protein sequence
86 deletion
87 demyelination
88 different clinical ALD phenotypes
89 disease
90 exon connection7
91 exons
92 familial cases
93 fatty acids
94 form
95 gene shares unexpected homology
96 genes
97 genomic sequences6
98 homology
99 identical deletion
100 identity
101 independent patients
102 insufficiency
103 library
104 long-chain fatty acids
105 males
106 manifestations
107 membrane proteins
108 mild form
109 nervous system demyelination
110 neurological symptoms
111 normal oxidation
112 only clinical manifestation
113 onset
114 oxidation
115 patients
116 patients' fibroblasts3
117 peroxisomal membrane protein
118 peroxisome biogenesis
119 phenotype
120 positional cloning
121 principal biochemical abnormality
122 progressive course
123 protein
124 protein sequences
125 screening
126 sequence
127 sequence identity
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129 severe form
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131 significant sequence identity
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