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  • 1
    Electronic Resource
    Electronic Resource
    Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method (1998)
    Springer
    Human genetics 〈Berlin〉 102 (1998), S. 79-86 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Dominant optic atrophy, a hereditary optic neuropathy causing decreased visual acuity, colour vision deficits, a centro-caecal scotoma and optic nerve pallor, has been mapped to a genetic interval of 1.4 cM between loci D3S3669 and D3S3562 on chromosome 3q28-qter. In order to further refine the critical disease interval, and to test the power of haplotype analysis and linkage disequilibrium mapping, we identified a total of 38 families with dominant optic atrophy, unrelated on the basis of genealogy, from a data base of genetic eye disease families originating from the British Isles. They were studied with 12 highly polymorphic microsatellite markers spanning a region of 12 cM around the dominant optic atrophy locus (OPA1). Allelic frequency analysis [chi-squared test, likeli-hood ratio test (LRT) and P values] and haplotype parsimony analysis showed evidence of a founder effect in 36 of the 38 pedigrees. Six markers (D3S3669, D3S1523, D3S3642, D3S2305, D3S3590 and D3S3562), spanning 1.4 cM across the disease-associated region, demonstrated significant linkage disequilibrium by LRT (P 〈 0.05). A peak LRT value of 10.86 (P 〈 0.0005, λ = 0.4) occurred at D3S3669. On linkage disequilibrium multipoint analysis the maximum lod score of 8.01 is achieved at D3S1523, and 95% confidence intervals suggest that OPA1 lies within ca. 400 kb of D3S1523.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050657
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  • 2
    Electronic Resource
    Electronic Resource
    Characterisation of PHSP1, a cDNA encoding a mitochondrial HSP70 fromPisum sativum (1992)
    Springer
    Plant molecular biology 18 (1992), S. 23-32 
    Details
    ISSN: 1573-5028
    Keywords: HSP70 ; mitochondria ; pea ; protein translocation ; cDNA
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract A pea cDNA clone,PHSP1, encoding a member of the HSP70 gene family has been isolated. DNA sequence analysis indicates that the protein encoded byPHSP1 is a homologue of the mitochondrial HSP70 proteins, SSP1 fromSchizosaccharomyces pombe and SSC1 fromS. cerevisiae. It contains an amino-terminal extension of 50 amino acids, rich in basic and hydroxyl amino acids, similar to other plant mitochondrial leader sequences. Western blot analysis indicates that the PHSP1 protein is associated only with mitochondria and not with any other sub-cellular organelle or cytoplasm. Further confirmation of its location within mitochondria was obtained fromin vitro protein translocation experiments into purifiedPisum sativum mitochondria. It was observed that the precursor protein was efficiently imported and that it is processed to produce a protein with anM r of the anticipated size of the mature protein. Results are discussed with respect to the structure and function of the mitochondrial HSP70 protein.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00018453
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  • 3
    Electronic Resource
    Electronic Resource
    Floral expression of a gene encoding an E2-relatedubiquitin-conjugating protein from Arabidopsis thaliana (1994)
    Springer
    Plant molecular biology 26 (1994), S. 445-451 
    Details
    ISSN: 1573-5028
    Keywords: ubiquitin ; Arabidopsis ; flower ; senescense
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract An Arabidopsis thaliana gene (UBC6) encoding a homologue to ubiquitin-conjugating enzymes has been isolated which is capable of encoding a protein of 183 amino acids of ca. 21 kDa. Northern analysis indicates that the gene is expressed in flowers, seeds and, to a somewhat lesser extent, in 10-day seedlings but not in mature leaves, callus and pre-flowering plants. This pattern of expression is confirmed using transgenic Arabidopsis plants containing a UBC6 promoter-GUS gene fusion construct. These plants displey GUS activity in mature anthers prior to dehiscence, in developing embryos, sepals and the style after pollination.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00039553
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  • 4
    Electronic Resource
    Electronic Resource
    Structure and Function of the Plant Alternative Oxidase: Its Putative Role in the Oxygen Defence Mechanism (1997)
    Springer
    Bioscience reports 17 (1997), S. 319-333 
    Details
    ISSN: 1573-4935
    Keywords: Plant alternative oxidase ; mitochondria ; oxidative stress ; active oxygen species
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract Current understanding of the structure and function of the plant alternative oxidase is reviewed. In particular, the role of the oxidase in the protection of tissues against oxidative stress is developed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1027388729586
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  • 5
    Electronic Resource
    Electronic Resource
    Dibutylchloromethyltin chloride, a potent inhibitor of electron transport in plant mitochondria (1980)
    Springer
    Journal of bioenergetics and biomembranes 12 (1980), S. 309-323 
    Details
    ISSN: 1573-6881
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology , Physics
    Notes: Abstract Dibutylchloromethyl tin chloride (DBCT) inhibits coupled and uncoupled respiration of mitochondria from potato tubers, cauliflower florets and etiolated mung bean hypocotyls with succinate andl-malate but not with external NADH or TMPD/ascorbate as substrates. Using potato and cauliflower mitochondria, DBCT at 200 pmole/mg of protein gives complete inhibition only in KCl-based media and at pH 6.8. DBCT has no effect on the internal pH of mung bean mitochondria, but does cause a decrease in the membrane potential. Electron transport through the alternative oxidase is not inhibited, neither is the ATP-synthase system. DBCT appears to interact with the functionally-distinct pool of ubiquinone associated with the oxidation of succinate andl-malate.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00744691
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  • 6
    Electronic Resource
    Electronic Resource
    Structure-function relationships of the alternative oxidase of plant mitochondria: A model of the active site (1995)
    Springer
    Journal of bioenergetics and biomembranes 27 (1995), S. 367-377 
    Details
    ISSN: 1573-6881
    Keywords: Alternative oxidase ; sequence homology ; hydroxo-bridged di-iron center proteins ; mitochondria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology , Physics
    Notes: Abstract A major characteristic of plant mitochondria is the presence of a cyanide-insensitive alternative oxidase which catalyzes the reduction of oxygen to water. Current information on the properties of the oxidase is reviewed. Conserved amino acid motifs have been identified which suggest the presence of a hydroxo-bridged di-iron center in the active site of the alternative oxidase. On the basis of sequence comparison with other di-iron center proteins, a structural model for the active site of the alternative oxidase has been developed that has strong similarity to that of methane monoxygenase. Evidence is presented to suggest that the alternative oxidase of plant mitochondria is the newest member of the class II group of di-iron center proteins.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02109999
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  • 7
    Electronic Resource
    Electronic Resource
    Introduction (1995)
    Springer
    Journal of bioenergetics and biomembranes 27 (1995), S. 365-366 
    Details
    ISSN: 1573-6881
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02109998
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  • 8
    Electronic Resource
    Electronic Resource
    Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG (1999)
    Springer
    Documenta ophthalmologica 98 (1999), S. 153-173 
    Details
    ISSN: 1573-2622
    Keywords: ERG ; photoreceptors ; retinoschisis ; XLRS1
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Intensity-series rod and cone ERGs were recorded in 19 patients with XLRS and 26 control eyes. All patients were examined by one ophthalmologist and diagnosed on the basis of fundus appearance and evidence of the disease in other males in the same family. Mutations in the XLRS1 gene have been identified in 15 of the patients. Dark-adapted ERGs were significantly different from controls for all test conditions and for both a-wave and b-wave responses. Abnormalities were detectable in all patients but there was considerable variation in the severity of abnormality. One third of the patients had the dark-adapted `negative-wave' response typically associated with inner retinal disorder, but about one third showed only mild depression of the b-wave while the remainder had abnormally low a-waves in addition to depressed b-waves. Light-adapted responses were also affected and both a-wave and b-wave responses differed significantly from controls, but the `negative-wave' response was not seen in any patient. The severity of the ERG abnormality did not correlate with the classification of fundus appearance or patient age suggesting that retinal function is relatively stable throughout life. The severity of ERG abnormalities did not correlate with the type of mutation and responses could differ between affected males within the same family. These results indicate considerable heterogeneity of ERG response without clinical, age or genetic correlate. The abnormal a-wave responses indicate that photoreceptor as well as inner retinal layer function may be affected in XLRS, at least in some patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1002432919073
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  • 9
    Electronic Resource
    Electronic Resource
    Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY (1998)
    Springer
    Mammalian genome 9 (1998), S. 784-787 
    Details
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. Autosomal dominant optic atrophy (OPA1) maps to Chromosome (Chr) 3q28, and the disease interval has been refined to within 1.4 cM, flanked by the markers D3S3669 and D3S3562. HRY, the human homolog of the Drosophila segmentation gene, hairy, maps by in situ hybridization to the chromosomal region 3q28-q29. We screened for mutations in HRY in 36 patients from 18 pedigrees with dominant optic atrophy and a group of normal control individuals. Heteroduplex mutation analysis and direct sequencing of all four coding exons and one upstream putative untranslated exon were performed. No disease-associated sequence alterations were identified. A polymorphism in the untranslated region of exon 2 was found, with four alleles. PCR amplification of this part of exon 2 in four of the pedigrees affected by autosomal dominant optic atrophy mapping to chromosome 3q, followed by haplotype analysis, showed recombination between HRY and OPA1 in one pedigree. This allows us to genetically position HRY in relation to known microsatellite markers in the region, placing HRY telomeric to marker D3S3562 and centromeric to D3S1305. This is outside the published critical disease interval for dominant optic atrophy. We have, therefore, excluded HRY as the gene for dominant optic atrophy by sequence analysis, mapped it genetically, and identified a polymorphism in our population.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003359900867
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