Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene.

Two distinct loci for the 24-kDa subunit of the mitochondrial NADH:ubiquinone oxidoreductase (complex I of the respiratory chain) were detected in the human genome: a transcribed gene from chromosome 18 and an inactive locus on chromosome 19. Cosmid clones containing the functional gene (NDUFV2) and the pseudogene (NDUFV2P1) were isolated. The NDUFV2 gene spans approximately 20 kb and contains 8 exons. Refined mapping of both NDUFV2 genes by FISH resulted in an assignment of the NDUFV2 gene to 18p11.2-p11.31 and of the NDUFV2P1 gene to 19q13.3-qter. The nucleotide sequence of the NDUFV2P1 pseudogene differs from the cDNA sequence by the lack of the methionine initiator codon, an additional 165 bp of the first intron sequence, and a 1-nucleotide deletion.