title: Isolation of a partial candidate gene for Menkes disease by positional cloning.
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.
authors: Department of Pediatrics, Howard Hughes Medical Institute, Ann Arbor, Michigan.
authors: J F
authors: JF
authors: Mercer
authors: J
authors: J
authors: Livingston
authors: B
authors: B
authors: Hall
authors: J A
authors: JA
authors: Paynter
authors: C
authors: C
authors: Begy
authors: S
authors: S
authors: Chandrasekharappa
authors: P
authors: P
authors: Lockhart
authors: A
authors: A
authors: Grimes
authors: M
authors: M
authors: Bhave
authors: D
authors: D
authors: Siemieniak
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics* / Q000378:metabolism; D000595:Amino Acid Sequence; D001483:Base Sequence; D015152:Blotting, Northern; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D027682:Cation Transport Proteins; D002478:Cells, Cultured; D015825:Chromosomes, Fungal; D003001:Cloning, Molecular; D000073840:Copper-Transporting ATPases; D004247:DNA / Q000302:isolation & purification; D016521:Electrophoresis, Gel, Pulsed-Field; D005260:Female; D015723:Gene Library; D015894:Genome, Human; D006801:Humans; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics*; D008670:Metals / Q000378:metabolism*; D008969:Molecular Sequence Data; D010375:Pedigree; D011993:Recombinant Fusion Proteins; D015183:Restriction Mapping; D017386:Sequence Homology, Amino Acid; D014178:Translocation, Genetic
chemical_list: D002352:Carrier Proteins; D027682:Cation Transport Proteins; D008670:Metals; D011993:Recombinant Fusion Proteins; D004247:DNA; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases