Saguenay Lac Saint Jean cytochrome oxidase deficiency: sequence analysis of nuclear encoded COX subunits, chromosomal localization and a sequence anomaly in subunit VIc.
A biochemically distinct form of cytochrome oxidase (COX) deficiency found in the Saguenay region of Quebec is an autosomal recessive trait. The cDNA sequences of all 10 nuclear-encoded subunits from a patient's fibroblasts showed normal coding sequence. Sequences for subunit VIc in two atypical patients showed a heterozygous base substitution. Subunit VIc was localized to chromosome 18.
Lee
N
N
Department of Biochemistry, University of Toronto, Ontario, Canada.
Morin
C
C
Mitchell
G
G
Robinson
B H
BH
D000818:Animals; D002417:Cattle; D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18; D018360:Crystallography, X-Ray; D030401:Cytochrome-c Oxidase Deficiency; D018076:DNA, Complementary / Q000032:analysis / Q000235:genetics; D003576:Electron Transport Complex IV / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D007888:Leigh Disease / Q000235:genetics*; D017421:Sequence Analysis; D013329:Structure-Activity Relationship
D018076:DNA, Complementary; D003576:Electron Transport Complex IV