| First Author | Chelly J | Year | 1993 |
| Journal | Nat Genet | Volume | 3 |
| Issue | 1 | Pages | 14-9 |
| PubMed ID | 8490646 | Mgi Jnum | J:3568 |
| Mgi Id | MGI:52080 | Doi | 10.1038/ng0193-14 |
| Citation | Chelly J, et al. (1993) Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein [see comments]. Nat Genet 3(1):14-9 |
| abstractText | 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. |
