Back to Search Start Over

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

Authors :
Chelly J
Tümer Z
Tønnesen T
Petterson A
Ishikawa-Brush Y
Tommerup N
Horn N
Monaco AP
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.

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