The nuclear mutation Ocdts-1 changes the 2-D electrophoretic pattern of Drosophila mitochondria

Søndergaard, Leif

doi:10.1111/j.1601-5223.1986.tb00545.x

Cited by 2 publications

(2 citation statements)

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“…Ocd and mitochondrial function: Speculation that the Ocd mutation had a mitochondrial function was based on the observation of an unidentified aberrant protein in Ocd mitochondria (Sondergaard 1986) and abnormalities in the reaction kinetics of the mitochondrial respiratory chain SCCR activity in Ocd mutants (Sondergaard 1976(Sondergaard , 1979. Interestingly, changes in the activation energy of mitochondrial enzymes in para mutants have also previously been observed (Sondergaard 1976).…”

Section: Discussionmentioning

confidence: 99%

“…This change in activation energy was also observed in wild-type flies, but occurs at a much lower temperature, 8°, below which wild-type flies also eventually succumb to paralysis. Furthermore, 2D gel electrophoresis apparently identified an abnormal pattern of mitochondrial polypeptides in Ocd adults (Sondergaard 1986), further implicating the Ocd gene product in mitochondrial function. However, it is equally possible that the mitochondrial defect is a downstream effect of susceptibility to cold-induced paralysis, rather than a direct result of the Ocd mutations themselves.…”

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The Dominant Cold-SensitiveOut-ColdMutants ofDrosophila melanogasterHave Novel Missense Mutations in the Voltage-Gated Sodium Channel Geneparalytic

et al. 2008

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Here we report the molecular characterization of Out-cold (Ocd) mutants of Drosophila melanogaster, which produce a dominant, X-linked, cold-sensitive paralytic phenotype. From its initial 1.5-Mb cytological location within 13F1-16A2, P-element and SNP mapping reduced the Ocd critical region to ,100 kb and to six candidate genes: hangover, CG9947, CG4420, eIF2a, Rbp2, and paralytic (para). Complementation testing with para null mutations strongly suggests Ocd and para are allelic, as does gene rescue of Ocd semilethality with a wild-type para transgene. Pesticide resistance and electrophysiological phenotypes of Ocd mutants support this conclusion. The para gene encodes a voltage-gated sodium channel. Sequencing the Ocd lines revealed mutations within highly conserved regions of the para coding sequence, in the transmembrane segment S6 of domain III (I1545M and T1551I), and in the linker between domains III and IV (G1571R), the location of the channel inactivation gate. The G1571R mutation is of particular interest as mutations of the orthologous residue (G1306) in the human skeletal muscle sodium channel gene SCN4A are associated with cases of periodic paralysis and myotonia, including the human cold-sensitive disorder paramyotonia congenita. The mechanisms by which sodium channel mutations cause cold sensitivity are not well understood. Therefore, in the absence of suitable vertebrate models, Ocd provides a system in which genetic, molecular, physiological, and behavioral tools can be exploited to determine mechanisms underlying sodium channel periodic paralyses. T HE molecular mechanisms underlying cold sensitivity in metazoans are not well understood, not least because relatively few studies have addressed this question. A few cold-sensitive mutations have been described in Drosophila melanogaster (Siddiqi and Benzer 1976;Sondergaard 1980;Lilly et al. 1994), but again the precise mechanisms by which these specific mutations lead to cold sensitivity have not been elucidated. The objective of this study was to identify the biological processes underlying cold sensitivity.The dominant cold-sensitive paralytic Out-cold (Ocd) mutations of D. melanogaster were originally isolated in a screen for X-linked male-lethal mutations (Sondergaard 1975(Sondergaard , 1979. Further analyses of the male-lethal stocks identified seven lines in which heterozygous mutant females exhibited a dominant cold-sensitive paralysis.

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The Dominant Cold-SensitiveOut-ColdMutants ofDrosophila melanogasterHave Novel Missense Mutations in the Voltage-Gated Sodium Channel Geneparalytic

et al. 2008

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technical knockout, a Drosophila Model of Mitochondrial Deafness

et al. 2001

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Mutations in mtDNA-encoded components of the mitochondrial translational apparatus are associated with diverse pathological states in humans, notably sensorineural deafness. To develop animal models of such disorders, we have manipulated the nuclear gene for mitochondrial ribosomal protein S12 in Drosophila (technical knockout, tko). The prototypic mutant tko25t exhibits developmental delay, bang sensitivity, impaired male courtship, and defective response to sound. On the basis of a transgenic reversion test, these phenotypes are attributable to a single substitution (L85H) at a conserved residue of the tko protein. The mutant is hypersensitive to doxycyclin, an antibiotic that selectively inhibits mitochondrial protein synthesis, and mutant larvae have greatly diminished activities of mitochondrial redox enzymes and decreased levels of mitochondrial small-subunit rRNA. A second mutation in the tko gene, Q116K, which is predicted to impair the accuracy of mitochondrial translation, results in the completely different phenotype of recessive female sterility, based on three independent transgenic insertions. We infer that the tko25t mutant provides a model of mitochondrial hearing impairment resulting from a quantitative deficiency of mitochondrial translational capacity.

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The nuclear mutation Ocdts-1 changes the 2-D electrophoretic pattern of Drosophila mitochondria

Cited by 2 publications

References 21 publications

The Dominant Cold-SensitiveOut-ColdMutants ofDrosophila melanogasterHave Novel Missense Mutations in the Voltage-Gated Sodium Channel Geneparalytic

The Dominant Cold-SensitiveOut-ColdMutants ofDrosophila melanogasterHave Novel Missense Mutations in the Voltage-Gated Sodium Channel Geneparalytic

technical knockout, a Drosophila Model of Mitochondrial Deafness

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