Journal article

ISOLATION OF A PARTIAL CANDIDATE GENE FOR MENKES DISEASE BY POSITIONAL CLONING

JFB MERCER, J LIVINGSTON, B HALL, JA PAYNTER, C BEGY, S CHANDRASEKHARAPPA, P LOCKHART, A GRIMES, M BHAVE, D SIEMIENIAK, TW GLOVER

NATURE GENETICS | NATURE PUBLISHING CO | Published : 1993

Abstract

Menkes disease is an X-linked recessive disorder of copper metabolism resulting in death in early infancy. The gene has been mapped to band Xq13 based, in part, on a translocation breakpoint in a female with the disease, which was found to lie within 300 kilobases (kb) of the PGK-1 locus, allowing the isolation of a YAC clone spanning the breakpoint. Phage subclones from the breakpoint region were isolated and used to screen cDNA libraries. cDNA clones were found which detect an 8 kb transcript from normal individuals but show diminished or absent hybridization in Menkes disease patients. Partial sequence of the cDNA shows a unique open reading frame containing putative metal binding motifs ..

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