Molecular cloning and characterization of the human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene
Journal Article
·
· American Journal of Human Genetics
OSTI ID:133828
- University Hospital, Nijmegen (Netherlands); and others
The mitochondrial NADH:ubiquinone oxidoreductase (complex I) of the respiratory chain is composed of at least 41 individual proteins. Seven are encoded for by the mitochondrial genome and 34 are of nuclear origin. Mutations in the mitochondrial encoded subunits have been observed in a number of different mitochondrial encephalomyopathies. In order to investigate the contribution of mutations in the nuclearly encoded subunits, we started to characterize the human gene for the 24 kDa flavoprotein fragment, one of the three key subunits of complex I. Two gene loci were detected with a human cDNA as a probe using somatic cell hybrids, one on chromosome 18 and one on chromosome 19. Cosmid clones were isolated containing the two genes. Using FISH analysis the map position was further refined to 18p11.2-18p11.31 and 19qter, respectively. RNA studies showed that only the chromosome 18 gene was expressed. This gene spans approximately 20 kb and consists of 8 exons. Exon and flanking intron sequences were characterized. The pseudogene differs from the intact cDNA by the lack of the methionine initiator codon. Currently, we are testing patients with complex I deficiencies for mutations in their 24 kDa gene.
- OSTI ID:
- 133828
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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