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


TUMER Z., VURAL B. , TONNESEN T., CHELLY J., MONACO A., HORN N.

GENOMICS, cilt.26, sa.3, ss.437-442, 1995 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 26 Konu: 3
  • Basım Tarihi: 1995
  • Doi Numarası: 10.1016/0888-7543(95)80160-n
  • Dergi Adı: GENOMICS
  • Sayfa Sayıları: ss.437-442

Özet

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 ATC: 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. (C) 1995 Academic Press, Inc.