Characterization of the exon structure of the Menkes disease gene using vectorette PCR

Z Tümer, B Vural, T Tønnesen, J Chelly, A P Monaco, N Horn

Abstract

The gene defective in Menkes disease, an X-linked recessive disturbance of copper metabolism, has been isolated and predicted to encode a copper-binding P-type ATPase. We determined the complete exon-intron structure of the Menkes disease gene, which spans about 150 kb of genomic DNA. The gene contains 23 exons, and the ATG start codon is in the second exon. All of the exon-intron boundaries were sequenced and conformed to the GT/AT rule, except for the 5' splice site of intron 9. A preliminary comparison demonstrated a striking similarity between the exon structures of the Menkes and Wilson disease genes, giving insight into their evolution.

Original languageEnglish
JournalGenomics
Volume26
Issue number3
Pages (from-to)437-42
Number of pages6
ISSN0888-7543
DOIs
Publication statusPublished - 10 Apr 1995
Externally publishedYes

Keywords

  • Adenosine Triphosphatases/genetics
  • Amino Acid Sequence
  • Base Sequence
  • Carrier Proteins/genetics
  • Cation Transport Proteins
  • Copper-Transporting ATPases
  • DNA, Complementary
  • Exons
  • Genetic Vectors
  • Hepatolenticular Degeneration/genetics
  • Humans
  • Introns
  • Menkes Kinky Hair Syndrome/genetics
  • Molecular Sequence Data
  • Polymerase Chain Reaction/methods
  • Recombinant Fusion Proteins
  • Sequence Deletion

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