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1.
Charcot–Marie–Tooth disease (CMT) has been classified into two types, CMT1 and CMT2, demyelinating and axonal forms, respectively. CMT2 has been further subdivided into eight groups by linkage studies. CMT2A is linked to chromosome 1p35–p36 and mutation in the kinesin family member 1B-ß (KIF1B) gene had been reported in one pedigree. However, no mutation in KIF1B was detected in other pedigrees with CMT2A and the mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) gene were recently detected in those pedigrees. MFN2, a mitochondrial transmembrane GTPase, regulates the mitochondrial network architecture by fusion of mitochondria. We studied MFN2 in 81 Japanese patients with axonal or unclassified CMT and detected seven mutations in seven unrelated patients. Six of them were novel and one of them was a de novo mutation. Most mutations locate within or immediately upstream of the GTPase domain or within two coiled-coil domains, which are critical for the functioning or mitochondrial targeting of MFN2. Formation of a mitochondrial network would be required to maintain the functional peripheral nerve axon.  相似文献   

2.
Four coumaronochromones, formosanatins A–D (Fig. 1 and Fig. 2–4), and a flavanone, euchrenone a16 (Fig. 1 and Fig. 2), along with four known compounds, euchretins E and G, euchrestaflavanone A, and daidzein, were isolated from the roots of Euchresta formosana. The structures of Fig. 1 and Fig. 2– Fig. 1 and Fig. 2 were established by spectroscopic analyses.  相似文献   

3.
The effect of factors such as gas recycle rate, bubble size, presence of acetone, and ethanol in the solution/broth were investigated in order to remove butanol from model solution or fermentation broth (also called acetone butanol ethanol or ABE or solvents). Butanol (8 g L–1, model solution, Fig. 2) stripping rate was found to be proportional to the gas recycle rate. In the bubble size range attempted (<0.5 and 0.5–5.0 mm), the bubble size did not have any effect on butanol removal rate (Fig. 3, model solution). In Clostridium beijerinckii fermentation, ABE productivity was reduced from 0.47 g L–1 h–1 to 0.25 g L–1 h–1 when smaller (<0.5 mm) bubble size was used to remove ABE (Fig. 4, results reported as butanol/ABE concentration). The productivity was reduced as a result of addition of an excessive amount of antifoam used to inhibit the production of foam caused by the smaller bubbles. This suggested that the fermentation was negatively affected by antifoam.Mention of trade names of commercial products in this article is solely for the purpose of providing scientific information and does not imply recommendation or endorsement by the United States Department of Agriculture.  相似文献   

4.
Summary This report describes the ontogenesis of tonotopy in the inferior colliculus (IC) of the rufous horseshoe bat (Rhinolophus rouxi). Horseshoe bats are deaf at birth, but consistent tonotopy with a low-to-high frequency gradient from dorsolateral to ventromedial develops from the 2nd up to the 5th week. The representation of the auditory fovea is established in ventro-mediocaudal parts of the IC during the 3rd postnatal week (Fig. 3). Then, a narrow frequency band 5 kHz in width, comprising 16% of the bat's auditory range, captures 50–60 vol% of the IC (Fig. 3c). However, foveal tuning is 10–12 kHz (1/3 octave) lower than in adults; foveal tuning in females (65–68 kHz) is 2–3 kHz higher than in males (62–65 kHz). Thereafter, foveal tuning increases by 1–1.5 kHz per day up to the 5th postnatal week, when the adult hearing range is established (Figs. 4, 5). The increase of sensitivity and of tuning sharpness of single units also follows a low-to-high frequency gradient (Fig. 6).Throughout this development the foveal tuning matches the second harmonic of the echolocation pulses vocalised by these young bats. The results confirm the hypothesis of developmental shifts in the frequency-place code for the foveal high frequency representation in the IC.Abbreviations BF best frequency - CF constant frequency - FM frequency modulation - IC inferior colliculus - IHC inner hair cell; - OHC outer hair cell - RR Rhinolophus rouxi  相似文献   

5.
Summary In spontaneous-choice experiments on the butterfliesAglais urticae L. (Nymphalidae) andPararge aegeria L. (Satyridae) the spectral effectiveness and spectral sensitivity of various behaviors were investigated and compared.Pilot experiments with colored PVC films showed indications of an intensity dependence of the feeding reaction inP. aegeria. Moreover, they revealed a color discrimination independent of this intensity discrimination:P. aegeria distinguishes red from grey shades as well as from black and white (Fig. 3).According to subsequent spontaneous-choice experiments using monochromatic light stimuli, the various visually controlled functional categories of behavior can be assigned to the following spectral regions: 1. The open-space reaction corresponds to the UV and violet region, ca. 320–420 nm, inP. aegeria (Figs. 4, 7). 2. The feeding reaction corresponds to the blue region, ca. 420–500 nm, inA. urticae (Fig. 1) andP. aegeria (Fig. 4), and the yellow region, ca. 550–590 nm, inA. urticae (Fig. 1) and the orange-red region, ca. 570–670 nm, inP. aegeria (Fig. 4).In these experiments with monochromatic light stimuli the intensity dependence of the reactions is also obvious (Figs. 2, 5, 6).The open-space reaction is elicited inP. aegeria by white light dependent on its UV content (Fig. 8). This is also valid for the feeding reaction inP. aegeria (Fig. 5b). To elicit this reaction it was necessary to offer light stimuli simultaneously with the odour stimulus of honey water. As the latter was of the same quality in combination with all light stimuli the results can be attributed definitely to the different effectiveness of the various light stimuli.Pure wavelength-specific behavior can be ruled out inA. urticae andP. aegeria. Wavelength-specific behavior and color vision are probably present simultaneously.Abbreviation RNQ relative number of quanta Supported by the Deutsche Forschungsgemeinschaft Ko 445/5-3  相似文献   

6.
Summary The circadian rhythm of sensitivity in the median eyes ofAndroctonus australis L. can be entrained by exposure of the lateral eyes to a 24-h light-dark rhythm. Presentation of the Zeitgeber to only the anteriormost one of the lateral eyes sufficed (Fig. 1). However, with illumination of an entire group of lateral eyes (Fig. 2), entrainment was obtained at extremely low light intensities — white light at luminance levels of 10–4cd · m–2 (=2.5 · 10–4 lux, cf. Methods).The relatively less marked circadian rhythm of lateral-eye sensitivity is probably controlled via the optic nerve supplying these eyes (Fig. 4).Supported by the Deutsche Forschungsgemeinschaft (F1 77/5-6 and F1 77/7 Schwerpunktprogramm: Biologie der Zeitmessung)  相似文献   

7.
Four mutations in the mitochondrial cytochromeb ofS. cerevisiae have been characterized with respect to growth capacities, catalytic properties, ATP/2e ratio, and transmembrane potential. The respiratory-deficient mutant G137E and the three pseudo-wild type revertants E137 + I147F, E137 + C133S, and E137 + N256K were described previously (Tron and Lemesle-Meunier, 1990; Di Ragoet al., 1990a). The mutant G137E is unable to grow on respiratory substrates but its electron transfer activity is partly conserved and totally inhibited by antimycin A. The secondary mutations restore the respiratory growth at variable degree, with a phosphorylation efficiency of 12–42% as regards the parental wild type strain, and result in a slight increase in the various electron transfer activities at the level of the whole respiratory chain. The catalytic efficiency for ubiquinol was slightly (G137E) or not affected (E137 + I147F, E137 + C133S, and E137 + N256K) in these mutants. Mutation G137E induces a decrease in the ATP/2e ratio (50% of the W.T. value) and transmembrane potential (60% of the W.T. value) at thebc1 level, whereas the energetic capacity of the cytochrome oxidase is conserved. Secondary mutations I147F, C133S, and N256K partly restore the ATP/ 2e ratio and the transmembrane potential at thebc1 complex level. The results suggest that a partial decoupling of thebc1 complex is induced by the cytochromeb point mutation G137E. In the framework of the protonmotive Q cycle, this decoupling can be explained by the existence of a proton wire connecting centers P and N in the wild typebc1 complex which may be amplified or uncovered by the G137E mutation when the bc1 complex is functioning.  相似文献   

8.
Summary Omega-type I-neurons (ON/1) (Fig. 1A) were recorded intracellularly with the prothoracic ganglion kept at temperatures of either 8–9°, or 20–22° or 30–33 °C and the forelegs with the tympanal organs kept at ambient temperature (20–22 °C). The neurons were stimulated with synthetic calling songs (5 kHz carrier frequency) with syllable periods (SP in ms) varying between 20 and 100, presented at sound intensities between 40 and 80 dB SPL. The amplitude and duration of spikes as well as response latency decreased at higher temperatures (Figs. 1 B, 2, 6). At lower prothoracic temperatures (8–9 °C) the neuron's responses to songs with short SP (20 ms) failed to copy single syllables, or with moderate SP (40 ms) copied the syllable with low signal to noise ratio (Fig. 3). The auditory threshold of the ON/1 type neuron, when tested with the song model, was temperature-dependent. At 9° and 20 °C it was between 40 and 50 dB SPL and at 33 °C it was less than 40 dB SPL (Fig. 4). For each SP, the slope of the intensity-response function was positively correlated with temperature, however, at low prothoracic temperatures the slope was lower for songs with shorter SPs (Fig. 5). The poor copying of the syllabic structure of the songs with short SPs at low prothoracic temperatures finds a behavioral correlate because females when tested for phonotaxis on a walking compensator responded best to songs with longer SPs at a similar temperature.Abbreviations epsps excitatory postsynaptic potentials - ON/1 omega-type I-neuron - SP syllable period - SPL sound pressure level  相似文献   

9.
Summary Drosophila have 3 types of retinal receptors, R1–6, R7 and R8. Using visual mutant strains lacking function in one or two receptor types, spectral preference in walking fast (30 s) phototaxis was measured. High correlations for intensity-response functions were obtained (Fig. 2 and 5). With a 467 nm choice standard, which could saturate R1–6, white-eyed strains with only R8 or with R1–6 plus R8 functional exhibited similar spectral sensitivities with a broad peak at visible wavelengths (Fig. 3) not unlike the electrophysiological characterization of R8 (Fig. 1). Strains with R7 plus R8 or with all receptors intact exhibited similar functions with a high ultraviolet (UV) peak (Fig. 4), like the electrophysiological characterization of R7 plus R8. The presence of R1–6 did not alter the profiles mediated by R8 alone or by R7 plus R8.With a 572 nm standard, which should maintain R1–6 function, white- and red-eyed wild-type strains with all receptors intact exhibited similar UV dominated spectral sensitivities, probably from R7 plus R8, with weak visible secondary peaks possibly from R1–6 or R8 (Fig. 6). However, even with a very dim 572 nm standard or with no standard at all, unequivocal evidence for R1–6 input was not found and intensity-response function correlations were low. This finding and other recent studies suggest that specific phototactic or optomotor tasks and conditions (e.g., adaptation level) determine the extent to which each receptor input is utilized.Spectral preference with a bright 365 nm standard was difficult to measure because of the strong UV preference in phototaxis. In pilot studies, an ocelliless strain showed strong fast phototaxis.Supported by NSF grants BMS-74-12817 and BNS-76-11921. We thank D. Lakin, A. Ivanyshyn, R. Greenberg, M. Chapin, D. Fritzberg, and W. Hamilton for technical assistance. We also thank R. Schümperli for suggestions, for his permission to redraw his data and for confirming the conversions we made.  相似文献   

10.
Summary The mean serum sodium, chloride and potassium concentrations and serum osmotic pressure of freshwaterA. dieffenbachii are 140.4 mmol 1–1,114.0 mmol 1–1, 6.66 mmol 1–1 and 307.7 mOsmol respectively. Gill tissue from freshwater specimens has a water content of 4234 mg g dry wt–1 (80.9% wet wt), a chloride space of 1852 mg water g dry wt–1 (35.2% wet wt) and an intracellular volume of 2449 mg water g dry wt (46.0% wet wt). Estimates of the intracellular sodium and potassium concentrations for the gill tissue of freshwater eels gave values of 28.9 mmol kg intracellular water–1 and 126.5 mmol kg intracellular water–1 respectively. On transfer of the fish to sea water serum concentrations of sodium and chloride and serum osmotic pressure show rapid initial increases followed by a more gradual decline eventually stabilising at new levels some 100 hours after transfer (Fig. 1). The serum sodium, chloride and potassium concentrations and serum osmotic pressure of seawater-adaptedA. dieffenbaehii are 162.8 mmol 1–1, 151.0 mmol 1–1, 6.70 mmol 1–1 and 376.9 mOsmol respectively.On transfer to sea water the water content and chloride space of the gill tissue is reduced and the intracellular volume is initially decreased but is rapidly restored to its original value (Fig. 2, 3). At the same time intracellular sodium and potassium concentrations are increased but the latter is fairly rapidly restored to pre-transfer levels (Fig. 4).The changes in intracellular potassium concentration can be explained largely by the changes in intracellular volume but intracellular sodium concentrations remain high on transfer because of the increased serum sodium concentration. The initial increases in serum concentrations on transfer to sea water are caused partly by the removal of water and partly by the addition of sodium and chloride ions to the internal body fluids.  相似文献   

11.
Summary A medium was found in which manganese efficiently induces erythromycin-resistant mitochondrial mutations, and which is suitable for measuring Mn2+ uptake and the labelling of DNA (Fig. 1). Mn2+ uptake is stimulated by glucose and slowed down by cycloheximide (Fig. 2). Mg2+ competes with Mn2+ uptake much stronger than does Zn2+ (Fig. 3). All of the conditions which favour Mn2+ uptake also favour induction of erythromycin-resistant mutations (Tables 3, 4).Mn2+ strongly inhibits protein synthesis (Table 1). Nuclear DNA replication is also strongly inhibited by this cation, while mitochondrial DNA replication is only weakly inhibited during the first 3 h of labelling, but there is small if any increase of the label incorporation between the 3rd and 6th h of labelling (Table 2). The relation between label incorporation into mitDNA and mutation induction by manganese is not straightforward (Table 5).From among 11 divalent cations tested, only Mn2+ was capable of inducing mitochondrial erythromycin-resistant mutations (Table 6).  相似文献   

12.
Summary Rat liver mitochondrial polyribosomes were isolated free from cytoplasmic ribonucleoprotein contaminations in a number of criteria (sedimentation and buoyant density patterns, ribosomal RNA composition). Heterogeneous poly A containing RNA from mitochondrial polysomes was purified by two-stage cellulose chromatography. This RNA was in vitro labelled with125I up to specific activity ~106–107 cts.min–1.µg –1 and used for hybridization experiments with separate complementary strands of mitochondrial DNA and nuclear DNA fragments. The proportions of mitochondrial poly A containing RNA that is complementary to heavy and light strands of mtDNA were respectively 31.5% and 8.3%. Besides, a significant RNA fraction was complementary to unique sequences of nuclear DNA (2–3 copies per haploid genome). The hybrids that were formed possessed a high Tm indicative of a perfect base pairing. A dual intracellular origin of mitochondrial messenger RNA is discussed.  相似文献   

13.
Summary The chemical carcinogen N-acetoxy-N-2-acetylaminofluorene induces mainly frameshift mutations, which occur within two types of sequences (mutation hot spots): –1 frameshift mutations within contiguous guanine sequences and –2 frameshift mutations within alternating GC sequences such as the NarI and BssHII restriction site sequences. We have investigated the genetic control of mutagenesis at these sequences by means of a reversion assay using plasmids pW17 and pX2, which contain specific targets for contiguous guanine and alternating GC sequences, respectively. Our results suggest that mutations at these hot spot sequences are generated by two different genetic pathways, both involving induction of SOS functions. The two pathways differ both in their LexA-controlled gene and RecA protein requirements. In the mutation pathway that acts at contiguous guanine sequences, the RecA protein participates together with the umuDC gene products. In contrast, RecA is not essential for mutagenesis at alternating GC sequences, except to cleave the LexA repressor. The LexA-regulated gene product(s), which participate in this latter mutational pathway, do not involve umuDC but another as yet uncharacterized inducible function. We also show that wild-type RecA and RecA430 proteins exert an antagonistic effect on mutagenesis at alternating GC sequences, which is not observed either in the presence of activated RecA (RecA*), RecA730 or RecA495 proteins, or in the complete absence of RecA as in recA99. It is concluded that the –1 mutation pathway presents the same genetic requirements as the pathway for UV light mutagenesis, while the –2 mutation pathway defines a distinct SOS pathway for frameshift mutagenesis.  相似文献   

14.
Summary The mobility and the electric charge of screening pigment granules of the mealmoth superposition eye were determined electrophoretically in buffer solutions. In potassium phosphate buffer the mobility of the negatively charged granules is linearly dependent on the pH in the range from 4.8 to 7.7 (Fig. 2), and in veronal buffer from pH= 2.3 to pH=7.5 (Fig. 3). At pH=6.6 the values of the effective charge per granule vary between 9.4·10–17 C and 2.0·10–16 C, those of the real charge between 2.4·10–14 C and 5.6·10–14 C (Table 1, Appendix). For equal electric fields, the mobility of the granules decreases with increasing ionic strength, and it remains the same for > 0.075 mol/1 (Fig. 4).  相似文献   

15.
Summary After purine staration the recombination proficient (Rec+) strains of E. coli K-12 tested were sensitized to inactivation by gamma-rays (Figs. 1–4). No such change was noted in the Rec strains tested (Fig. 5). These results suggest that purine starvation may sensitize cells to ionizing radiation by inhibiting repair controlled by the recA, recB and recC genes.This paper was reported in part at the Fourteenth Annual meeting of the Biophysical Society in Baltimore, Md., 25–27 February 1970.  相似文献   

16.
Paromomycin is an aminocyclitol aminoglycoside antibiotic used for the treatment of leishmaniasis. In view of the central role of mitochondria in cellular energetics and metabolism, its effect onin vivomitochondrial activities ofLeishmania donovanipromastigotes—the parasite flagellate form—was investigated. The approach used flow cytometry, amperometric measure of O2consumption, and, as a global estimate of mitochondrial dehydrogenases, thiazolyl blue reduction (MTT test); somein vitrocontrols were also made. When added to promastigote cultures for 24–72 h at 150–200 μM(= LC50), paromomycin doubled the generation time, inhibited respiration, and lowered its associated electric potential difference across mitochondrial membranes, as measured by rhodamine 123 fluorescence. The chemical analogue neomycin was ineffective. Furthermore, thein vivomitochondrial dehydrogenase activities were lower, seemingly because of the shortage of respiratory substrates. Indeed, succinate addition to paromomycin-treated cultures partly restored mitochondrial membrane potential. However, no immediate effect of paromomycin on respiration was observed, neither inhibition of redox chain nor increase of membrane permeability (uncoupling). It is proposed that paromomycin acts at a metabolic level upstream of the respiratory chain itself. This would have the observed delayed consequence because the cell energy supply would progressively decline since it depends upon the proton gradient—viz., membrane potential—generated by respiration. In conclusion, paromomycin is an antibiotic affecting the cell's energetic metabolism; the respiratory dysfunction it induces may be a crucial aspect of its action againstLeishmaniaand possibly other cells.  相似文献   

17.
    
Summary In a search for new aerobic-growth deficiency mutations affecting mitochondrial energy-conservation two mit mutations, namely pho-8 and pho-9, have been isolated.The two mutations are allelic with each other, but not allelic with the previously known pho1 mutations although close linkage is indicated.Allelism studies define three distinct PHO loci clustered in this region which also includes the drugresistance loci OSS1, OLI2 and OLI4. The existence of phenotypically-distinct markers makes the region amenable to fine-structure mapping.  相似文献   

18.
N-2-acetylaminofluorene has been shown efficiently to induce both –1 and –2 frameshift mutations in Escherichia coli as well as in mammalian cells. In E. coli, the genetic characteristics of –1 and –2 frameshift mutations were found to be distinct. The –1 frameshift mutation pathway occurs at monotonous runs of G residues (i.e. GGGGG). This pathway exhibits the same genetic requirements as UV light-induced base substitution mutagenesis. Indeed, optimal mutagenesis requires the expression of both UmuDC and the activated form of RecA. The –2 frameshift mutation pathway operates at short alternating GpC sequences, such as the NarI sequence (i.e. GGCGCCGGCC). In contrast to the –1 frameshift mutation pathway, optimal induction does not require the UmuDC and RecA proteins. This pathway involves a LexA-repressed function tentatively called Npf (for NarI processing factor). In this paper, we show that MucAB efficiently stimulates the –2 frameshift mutation pathway. However, unlike the Npf pathway, MucAB-mediated stimulation requires expression of the RecA protein.  相似文献   

19.
Summary The Saccharomyces cerevisiae nuclear gene NAM2 codes for mitochondrial leucyl-tRNA synthetase (mLRS). Herbert et al. (1988, EMBO J 7:473–483) proposed that this protein is involved in mitochondrial RNA splicing. Here we present the construction and analyses of nine mutations obtained by creating two-codon insertions within the NAM2 gene. Three of these prevent respiration while maintaining the mitochondrial genome. These three mutants: (1) display in vitro a mLRS activity ranging from 0%–50% that of the wild type: (2) allow in vivo the synthesis of several mitochondrially encoded proteins; (3) prevent the synthesis of the COXII protein but not of its mRNA; (4) abolish the splicing of the group I introns bI4 and aI4; and (5) affect significantly the excision of the group I introns bI2, bI3 and aI3. Importation of the bI4 maturase from the cytoplasm into mitochondria in a nam2 mutant strain does not restore the excision of the introns bI4 and aI4 implying that the splicing deficiency does not result from the absence of the bI4 maturase. We conclude that the mLRS is a splicing factor essential for the excision of the group I introns bI4 and aI4 and probably important for the excision of other group I introns.  相似文献   

20.
Summary The tonotopic organization of the inferior colliculus (IC) in two echolocating bats,Hipposideros speoris andMegaderma lyra, was studied by multiunit recordings.InHipposideros speoris frequencies below the range of the echolocation signals (i.e. below 120 kHz) are compressed into a dorsolateral cap about 400–600 m thick. Within this region, neuronal sheets of about 4–5 m thickness represent a 1 kHz-band.In contrast, the frequencies of the echolocation signals (120–140 kHz) are overrepresented and occupy the central and ventral parts of the IC (Fig. 3). In this region, neuronal sheets of about 80 m thickness represent a 1 kHz-band. The largest 1 kHz-slabs (400–600 m) represent frequencies of the pure tone components of the echolocation signals (130–140 kHz).The frequency of the pure tone echolocation component is specific for any given individual and always part of the overrepresented frequency range but did not necessarily coincide with the BF of the thickest isofrequency slab. Thus hipposiderid bats have an auditory fovea (Fig. 10).In the IC ofMegaderma lyra the complete range of audible frequencies, from a few kHz to 110 kHz, is represented in fairly equal proportions (Fig. 7). On the average, a neuronal sheet of 30 m thickness is dedicated to a 1 kHz-band, however, frequencies below 20 kHz, i.e. below the range of the echolocation signals, are overrepresented.Audiograms based on thresholds determined from multiunit recordings demonstrate the specific sensitivities of the two bat species. InHipposideros speoris the audiogram shows two sensitivity peaks, one in the nonecholocating frequency range (10–60 kHz) and one within the auditory fovea for echolocation (130–140 kHz).Megaderma lyra has extreme sensitivity between 15–20 kHz, with thresholds as low as –24 dB SPL, and a second sensitivity peak at 50 kHz (Fig. 8).InMegaderma lyra, as in common laboratory mammals, Q10dB-values of single units do not exceed 30, whereas inHipposideros speoris units with BFs within the auditory fovea reach Q10dB-values of up to 130.InMegaderma lyra, many single units and multiunit clusters with BFs below 30 kHz show upper thresholds of 40–50 dB SPL and respond most vigorously to sound intensities below 30 dB SPL (Fig. 9). Many of these units respond preferentially or exclusively to noise. These features are interpreted as adaptations to detection of prey-generated noises.The two different tonotopic arrangements (compare Figs. 3 and 7) in the ICs of the two species are correlated with their different foraging behaviours. It is suggested that pure tone echolocation and auditory foveae are primarily adaptations to echo clutter rejection for species foraging on the wing close to vegetation.Abbreviations BF Best frequency - CF constant frequency - FM frequency modulated - IC inferior colliculus - HS Hipposideros speoris  相似文献   

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