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| ISOLATION OF A PARTIAL CANDIDATE GENE FOR MENKES DISEASE BY POSITIONAL CLONING |
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| Author(s): MERCER JFB, LIVINGSTON J, HALL B, PAYNTER JA, BEGY C, CHANDRASEKHARAPPA S, LOCKHART P, GRIMES A, BHAVE M, SIEMIENIAK D, GLOVER TW |
| Source: NATURE GENETICS Volume: 3 Issue: 1 Pages: 20-25 Published: JAN 1993 |
| Times Cited: 487 References: 23 |
| Abstract: 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. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV MICHIGAN, HOWARD HUGHES MED INST, DEPT PEDIAT, ANN ARBOR, MI 48109 USA
2. UNIV MICHIGAN, HOWARD HUGHES MED INST, DEPT HUMAN GENET, ANN ARBOR, MI 48109 USA
3. UNIV MICHIGAN, CTR GENOME, ANN ARBOR, MI 48109 USA
4. MURDOCH UNIV, SCOBIE & CLAIRE MACKINNON TRACE ELEMENT LAB, MURDOCH, WA 6150 AUSTRALIA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: KF372 |
| ISSN: 1061-4036 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |