title: Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease.
abstract: ATP7B is a copper-transporting P-type ATPase defective in the copper transport disorder, Wilson disease (WND). We have sequenced the 5' UTR and promoter region of ATP7B in 37 unrelated WND patients in whom partial sequencing of the coding region and intron/exon boundaries of the gene had failed to identify one or both disease-causing mutations. Three patients were found to be heterozygous for a 15 bp deletion between nucleotides -424 and -441. This deletion had been previously identified as the most common mutation in Sardinian WND patients. Two novel single-nucleotide changes were also identified within the 5' UTR and promoter of ATP7B; however, these were found at a similar frequency in control chromosomes and are apparently normal variants. These results suggest that mutations in regulatory elements of ATP7B are uncommon in patients of European ancestry, except in Sardinia.
authors: Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
authors: L M
authors: LM
authors: Cullen
authors: L
authors: L
authors: Prat
authors: D W
authors: DW
authors: Cox
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics*; D000251:Adenosine Triphosphatases / Q000235:genetics*; D001483:Base Sequence; D002170:Canada; D027682:Cation Transport Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis; D014644:Genetic Variation; D006527:Hepatolenticular Degeneration / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007558:Italy / Q000208:ethnology; D008969:Molecular Sequence Data; D009841:Oligonucleotides; D011401:Promoter Regions, Genetic; D017384:Sequence Deletion; D006113:United Kingdom
chemical_list: D020121:5' Untranslated Regions; D027682:Cation Transport Proteins; D009841:Oligonucleotides; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases