CHARACTERIZATION OF THE EXON STRUCTURE OF THE MENKES DISEASE GENE USING VECTORETTE PCR

The gene defective in Menkes disease, an X-linked recessive disturbanc e of copper metabolism, has been isolated and predicted to encode a co pper-binding P-type ATPase. We determined the complete exon-intron str ucture of the Menkes disease gene, which spans about 150 kb of genomic DNA. The gene contains 23 exons, and the ATC: start codon is in the s econd exon. All of the exon-intron boundaries were sequenced and confo rmed to the GT/AT rule, except for the 5' splice site of intron 9. A p reliminary comparison demonstrated a striking similarity between the e xon structures of the Menkes and Wilson disease genes, giving insight into their evolution. (C) 1995 Academic Press, Inc.