Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.6.3.14 (ATP synthase)
 7,042 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

cDNA and genomic clones encoding the complete precursor polypeptide of the gamma-subunit of spinach chloroplast ATP synthase have been isolated and characterised. The longest cDNA (1320 bp), selected from a lambda gt11 spinach cDNA library, encoded a 364 amino acid residue protein (Mr 40,028) that included a putative 41 residue N-terminal transit peptide. All the gamma-subunit cDNAs analysed were derived from the same gene and Southern blot analysis of Bam HI restricted spinach DNA showed only one hybridising band (ca. 15 kb). Analysis of the cloned 15 kb genomic fragment, selected from a lambda EMBL4 spinach DNA library with a cDNA probe, confirmed there was a single gene for the gamma-subunit. Sequencing, primer extension and northern blot analysis showed the gene contains two introns, 1066 and 665 bp in length, a 173 bp 5' untranslated region and a 213 bp 3' untranslated region. A 1450 nucleotide gamma-subunit transcript was detected in RNA from light-grown and dark-grown spinach.
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PMID:The gamma-subunit of spinach chloroplast ATP synthase: isolation and characterisation of cDNA and genomic clones. 215 16

Complementary DNAs encoding nuclear-coded mitochondrial ATP synthase subunit alpha of Drosophila melanogaster and Strongylocentrotus purpuratus were obtained by a combination of library screening and redundant PCR. The entire coding sequence of the precursor polypeptide was inferred for both species. Southern blots to genomic DNA indicated that the gene is almost certainly single-copy in both organisms. Northern blots to RNA from staged developmental series showed that ATP synthase subunit alpha mRNA is represented in the egg, declines in abundance during cleavage, and is replenished by zygotic transcription in both species. However, the extent and timing of these changes differ significantly in the two species studied. Nuclear-coded and mitochondrially encoded ATP synthase genes appear to be temporally co-regulated in Drosophila, but not sea urchin development.
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PMID:Expression of the nuclear gene encoding mitochondrial ATP synthase subunit alpha in early development of Drosophila and sea urchin. 954 69

Unlike most organisms, the mitochondrial DNA (mtDNA) of Chlamydomonas reinhardtii, a green alga, does not encode subunit 6 of F(0)F(1)-ATP synthase. We hypothesized that C. reinhardtii ATPase 6 is nucleus encoded and identified cDNAs and a single-copy nuclear gene specifying this subunit (CrATP6, with eight exons, four of which encode a mitochondrial targeting signal). Although the algal and human ATP6 genes are in different subcellular compartments and the encoded polypeptides are highly diverged, their secondary structures are remarkably similar. When CrATP6 was expressed in human cells, a significant amount of the precursor polypeptide was targeted to mitochondria, the mitochondrial targeting signal was cleaved within the organelle, and the mature polypeptide was assembled into human ATP synthase. In spite of the evolutionary distance between algae and mammals, C. reinhardtii ATPase 6 functioned in human cells, because deficiencies in both cell viability and ATP synthesis in transmitochondrial cell lines harboring a pathogenic mutation in the human mtDNA-encoded ATP6 gene were overcome by expression of CrATP6. The ability to express a nucleus-encoded version of a mammalian mtDNA-encoded protein may provide a way to import other highly hydrophobic proteins into mitochondria and could serve as the basis for a gene therapy approach to treat human mitochondrial diseases.
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PMID:An algal nucleus-encoded subunit of mitochondrial ATP synthase rescues a defect in the analogous human mitochondrial-encoded subunit. 1242 28