THE HUMAN MITOCHONDRIAL ELONGATION-FACTOR TU (EF-TU) GENE - CDNA SEQUENCE, GENOMIC LOCALIZATION, GENOMIC STRUCTURE, AND IDENTIFICATION OF APSEUDOGENE

The human mitochondrial elongation factor Tu (EF-Tu) is nuclear-encode d and functions in the translational apparatus of mitochondria. The co mplete human EF-Tu cDNA sequence of 1677 base pairs (bp) with a 101 bp 5'-untranslated region, a 1368 bp coding region, and a 207 bp 3'-untr anslated region, has been determined and updated. The predicted protei n from this cDNA sequence is similar to 49.8 kDa in size and is compos ed of 455 amino acids (aa) with a putative N-terminal mitochondrial le ader sequence of similar to 50 aa residues. The predicted amino acid s equence shows high similarity to other EF-Tu protein sequences from ox , yeast, and bacteria, and also shows limited similarity to human cyst olic elongation factor 1 alpha. The complete size of this cDNA (1677 b p) obtained by cloning and sequencing was confirmed by Northern blot a nalysis, which showed a single transcript (mRNA) of similar to 1.7 kb in human liver. The genomic structure of this EF-Tu gene has been dete rmined for the first time. This gene contains nine introns with a pred icted size of similar to 3.6 kilobases (kb) and has been mapped to chr omosome 16p11.2. In addition, an intronless pseudogene of similar to 1 .7 kb with 92.6% nucleotide sequence similarity to the EF-Tu gene has also been identified and mapped to chromosome 17q11.2. (C) 1997 Elsevi er Science B.V.