STRUCTURE OF THE HUMAN GENE (COX6A2) FOR THE HEART MUSCLE ISOFORM OF CYTOCHROME-C-OXIDASE SUBUNIT VIA AND ITS CHROMOSOMAL LOCATION IN HUMANS, MICE, AND CATTLE/

We have mapped the gene for the heart/muscle isoform of cytochrome c o xidase (COX) subunit VIa in three mammalian species and isolated the h uman COX6AH gene (HGMW-approved symbol COX6A2). The bovine gene was ma pped by somatic cell hybrid mapping panels to bovine chromosome BTA 25 with 94-95% concordance. The mouse gene (Cox6ah) was mapped using an interspecific backcross panel from the cross (C57BL/6J x Mus spretus)F -1 x Mus spretus probed with the mouse COX VIa-H cDNA. Cox6ah was loca ted on distal chromosome 7, between D7Mit8 and D7Mit13. From the regio ns of known gene conservation among these three species, we predicted that human COX6AH would be located on chromosome 16p. We hybridized a human x rodent mapping panel of somatic cell hybrids with the human cD NA to confirm this assignment. These data taken together indicated tha t the human COX6AH gene is located on the short arm of chromosome 16 a nd facilitated the isolation of the human gene from a chromosome 16-en riched library. The human COX6AH gene spans about 1 kb and contains th ree exons and two small introns. The sequences of the proximal 5' flan king regions of COX6AH genes are highly conserved between human, bovin e, and rodent. (C) 1997 Academic Press.