title: Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease.
abstract: The putative copper and ATP-binding domains of the human Menkes disease gene were used as probes to screen a human liver cDNA library at reduced stringency. Sixty-five clones which remained positive after tertiary screening were subcloned and sequenced. One of these cDNA clones contains an open reading frame with 65% amino acid homology to the Menkes protein. Southern blot analysis localizes this cDNA to the region of the Wilson disease locus on chromosome 13. This cDNA detects a 7.5 kB transcript which is present in human liver and cell lines devoid of the Menkes transcript and which is absent in liver from a patient with Wilson disease. These data suggest that this cDNA is a candidate gene for Wilson disease and that the protein encoded at this locus is a member of the P-type ATPase family.
authors.affiliation: Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110.
authors.forename: Y
authors.initials: Y
authors.lastname: Yamaguchi
authors.forename: M E
authors.initials: ME
authors.lastname: Heiny
authors.forename: J D
authors.initials: JD
authors.lastname: Gitlin
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13; D003300:Copper / Q000378:metabolism*; D015342:DNA Probes; D018076:DNA, Complementary / Q000235:genetics; D015723:Gene Library; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D008099:Liver / Q000378:metabolism; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000032:analysis; D017386:Sequence Homology, Amino Acid
chemical_list: D002352:Carrier Proteins; D015342:DNA Probes; D018076:DNA, Complementary; D012333:RNA, Messenger; D003300:Copper; D000251:Adenosine Triphosphatases