GENOMIC STRUCTURE OF THE HUMAN NDUFS8 GENE CODING FOR THE IRON-SULFURTYKY SUBUNIT OF THE MITOCHONDRIAL NADH-UBIQUINONE OXIDOREDUCTASE

The structural organization of the NDUFS8 gene coding for the TYKY sub unit of the human mitochondrial NADH:ubiquinone oxidoreductase (Comple x I) has been determined by sequencing of a genomic fragment cloned fr om a cosmid library. The NDUFS8 gene is located on chromosome 11q13 im mediately downstream of the ALDH7 isoform gene. It spans about 6 kb an d contains seven exons ranging in size from 51 to 186 bp. Three CCAAT box sequence motifs are present upstream of the transcription start. S pl and NRF1 binding site motifs are present in the first intron. Expre ssion of the gene is ubiquitous but predominant in heart and skeletal muscle. Immunodetection of the TYKY subunit in placental mitochondria after two-dimensional gel electrophoresis revealed that the mature pro tein has a molecular mass of 22 kDa and a pi in the range of 4.9-5.0. (C) 1998 Elsevier Science B.V. All rights reserved.