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Occurrence of two missense mutations in Cu‐ATPase of the macular mouse, a menkes disease model
Author(s) -
Ohta Yuriko,
Shiraishi Noriyuki,
Nishikimi Morimitsu
Publication year - 1997
Publication title -
iubmb life
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.132
H-Index - 113
eISSN - 1521-6551
pISSN - 1521-6543
DOI - 10.1080/15216549700204721
Subject(s) - menkes disease , missense mutation , atp7a , mutant , atpase , microbiology and biotechnology , biology , complementary dna , mutation , transmembrane domain , gene , northern blot , genetics , chemistry , biochemistry , copper , transporter , enzyme , copper metabolism , organic chemistry
We have investigated the genetic defect of the Cu‐ATPase gene (Atp7a) in the macular mouse, a genetic model of classical Menkes disease. Northern blot analysis showed that its placenta and kidney possess a normal amount of the Cu‐ATPase mRNA of the normal size; sequencing analysis revealed two missense mutations, His674Arg and Ser1381Pro, in a PCR‐amplified cDNA for mutant Cu‐ATPase. The latter mutation was suspected to affect the function of the ATPase, because it lies in the transmembrane segment that is thought to form a channel for the transportation of copper ions.