Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

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 isol...

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Veröffentlicht in:Nature genetics 1993-01, Vol.3 (1), p.14-19
Hauptverfasser: Chelly, Jamel, Tümer, Zeynep, Tønnesen, Tønne, Petterson, Anne, Ishikawa-Brush, Yumiko, Tommerup, Niels, Horn, Nina, Monaco, Anthony P.
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container_title Nature genetics
container_volume 3
creator Chelly, Jamel
Tümer, Zeynep
Tønnesen, Tønne
Petterson, Anne
Ishikawa-Brush, Yumiko
Tommerup, Niels
Horn, Nina
Monaco, Anthony P.
description 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.
doi_str_mv 10.1038/ng0193-14
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subjects Adenosine Triphosphatases - genetics
Adenosine Triphosphatases - metabolism
Agriculture
Amino Acid Sequence
Animal Genetics and Genomics
Base Sequence
Biomedical and Life Sciences
Biomedicine
Blotting, Southern
Cancer Research
Carrier Proteins - genetics
Carrier Proteins - metabolism
Cation Transport Proteins
cDNA
Cells, Cultured
Cloning, Molecular
Copper-transporting ATPases
DNA
Female
Gene Function
genes
genes products
heavy metal-binding protein
Human Genetics
Humans
Male
man
Menkes disease
Menkes Kinky Hair Syndrome - genetics
Metals - metabolism
Molecular Sequence Data
nucleotide sequence
predictions
Recombinant Fusion Proteins
Sequence Homology, Amino Acid
X Chromosome
title Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein
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