The human COX6A1 gene encodes the ubiquitous isoform of cytochrome c oxidas
e (COX) subunit VIa (VIa-L), and is located in a CpG island on chromosome 1
2q24.2. We compared the COX6A1 gene with the published cDNA and several EST
s and concluded that subunit COX VIa-L is synthesized as a preprotein, as a
re other COX subunits. The same transcription start sites were identified b
y primer extension analysis of human brain and lymphoblastoid RNA. Analysis
of the COX6A1 promoter revealed several conserved sequence elements found
in other COX genes, namely binding sites for nuclear respiratory factor 1 (
NRF-1), nuclear respiratory factor 2/GA binding protein (NRF-2/GABP), and y
ing-yang protein 1 (YY1). These conserved elements were shown to bind nucle
ar proteins from HeLa nuclear extracts. COX6A1 cDNA was isolated from a hum
an brain cDNA library, and the sequence was identical to that of human live
r. The expression of this gene was demonstrated by in-situ hybridization in
monkey brain sections with our human brain cDNA. Monocular impulse blockad
e in adult monkeys induced a downregulation of COX6A1 expression in deprive
d visual neurons, suggesting that this subunit gene is regulated by-neurona
l activity. (C) 2000 Elsevier Science B.V. All rights reserved.