| First Author | Mercer JF | Year | 1993 |
| Journal | Nat Genet | Volume | 3 |
| Issue | 1 | Pages | 20-5 |
| PubMed ID | 8490647 | Mgi Jnum | J:3592 |
| Mgi Id | MGI:52104 | Doi | 10.1038/ng0193-20 |
| Citation | Mercer JF, et al. (1993) Isolation of a partial candidate gene for Menkes disease by positional cloning [see comments]. Nat Genet 3(1):20-5 |
| abstractText | Menkes disease is an X-linked recessive disorder of copper metabolism resulting in death in early infancy. The gene has been mapped to band Xq13 based, in part, on a translocation breakpoint in a female with the disease, which was found to lie within 300 kilobases (kb) of the PGK-1 locus, allowing the isolation of a YAC clone spanning the breakpoint. Phage subclones from the breakpoint region were isolated and used to screen cDNA libraries. cDNA clones were found which detect an 8 kb transcript from normal individuals but show diminished or absent hybridization in Menkes disease patients. Partial sequence of the cDNA shows a unique open reading frame containing putative metal binding motifs which have been found in heavy metal resistance genes in bacteria. This gene is a strong candidate for the Menkes disease gene. |
