Saguenay Lac Saint Jean cytochrome oxidase deficiency: sequence analysis of nuclear encoded COX subunits, chromosomal localization and a sequence anomaly in subunit VIc

N Lee; C Morin; G Mitchell; B H Robinson

doi:10.1016/s0925-4439(98)00003-9

Saguenay Lac Saint Jean cytochrome oxidase deficiency: sequence analysis of nuclear encoded COX subunits, chromosomal localization and a sequence anomaly in subunit VIc

Biochim Biophys Acta. 1998 Feb 27;1406(1):1-4. doi: 10.1016/s0925-4439(98)00003-9.

Authors

N Lee¹, C Morin, G Mitchell, B H Robinson

Affiliation

¹ Department of Biochemistry, University of Toronto, Ontario, Canada.

PMID: 9545512
DOI: 10.1016/s0925-4439(98)00003-9

Abstract

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.

MeSH terms

Animals
Cattle
Chromosome Mapping*
Chromosomes, Human, Pair 18*
Crystallography, X-Ray
Cytochrome-c Oxidase Deficiency*
DNA, Complementary / analysis
DNA, Complementary / genetics
Electron Transport Complex IV / chemistry
Electron Transport Complex IV / genetics*
Humans
Leigh Disease / genetics*
Sequence Analysis
Structure-Activity Relationship

Substances

DNA, Complementary
Electron Transport Complex IV