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Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.
- Source :
-
Nature genetics [Nat Genet] 1993 Jan; Vol. 3 (1), pp. 14-9. - Publication Year :
- 1993
-
Abstract
- Menkes disease is a lethal-X linked recessive disorder associated with copper metabolism disturbance. We have recently mapped two chromosome breakpoints related to this disease in a 1 megabase yeast artificial chromosome contig at Xq13.3. We now report the construction of a phage contig and the isolation of candidate partial cDNAs for the Menkes disease gene. The candidate gene expresses an 8 kb message in all investigated tissues, and deletions were detected in 16% of 100 unrelated Menkes patients. The deduced partial protein sequence shared the GMTCXXC motif with bacterial metal resistance operons, suggesting a potential heavy metal binding protein. These findings should lead to more accurate prenatal diagnosis of this severe disease and a better understanding of the cellular homeostasis of essential heavy metals.
- Subjects :
- Adenosine Triphosphatases metabolism
Amino Acid Sequence
Base Sequence
Blotting, Southern
Carrier Proteins metabolism
Cells, Cultured
Cloning, Molecular
Copper-Transporting ATPases
DNA
Female
Humans
Male
Molecular Sequence Data
Sequence Homology, Amino Acid
X Chromosome
Adenosine Triphosphatases genetics
Carrier Proteins genetics
Cation Transport Proteins
Menkes Kinky Hair Syndrome genetics
Metals metabolism
Recombinant Fusion Proteins
Subjects
Details
- Language :
- English
- ISSN :
- 1061-4036
- Volume :
- 3
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Nature genetics
- Publication Type :
- Academic Journal
- Accession number :
- 8490646
- Full Text :
- https://doi.org/10.1038/ng0193-14