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At least 865 records · Page 48Linked to original sources
PubMed1988

Stable polymorphism for mutant eye colour genes in populations of Drosophila melanogaster in two different media.

In previous work analyzing variability of eye colour alleles existing in natural populations of D. melanogaster, it was observed that the number of females heterozygous for some eye colour alleles was greater in a wine cellar population than in populations outside this cellar. In order to determine which mechanisms caused these eye colour alleles to be favored in the heterozygotes, the changes in the frequency of four eye colour alleles frequently seen in the cellar population (se77o, sf77m, cd77o and multichromosomal 77o) was studied in artificial populations. Two different culture media, one supplemented with 10% ethanol and the other without ethanol were used. It was found that each of the four mutants reached similar equilibrium frequencies in both media, though the safranin allele (sf77m) equilibrium frequency was significantly higher in the alcohol medium. A significant excess of heterozygotes were also observed in these populations.

Alleles↗
PubMed1996

Genomic imprinting of chromatin in Drosophila melanogaster.

During gametogenesis, chromosomes may become imprinted with information which facilitates proper expression of the DNA in offspring. We have used a position effect variegation mutant as a reporter system to investigate the possibility of imprinting in Drosophila melanogaster. Genetic crosses were performed in which the variegating gene and a strong modifier of variegation were present either within the same parental genome or in opposite parental genomes in all possible combinations. Our results indicate that the presence of the variegating chromosome and a modifier chromosome in the same parental genome can alter the amount of variegation formed in progeny. The genomic imprinting we observed is not determined by the parental origin of the variegating chromosome but is instead determined by the genetic background the variegating chromosome is subjected to during gametogenesis.

Animals↗
PubMed1978

On the effects of different laser energy sources upon the iris of the pigmented and the albino rabbit.

The irides of pigmented and albino rabbits have been irradiated by a) a CW argon laser beam (exposure duration up to 1 s), b) a 1 ms pulses Nd:YAG laser and c) a 30 ns pulses Q-switched ruby laser. The immediate and long-term pathologies were analysed by scanning and transmission electron microscopy over a period of 13 months. At both the gross and ultrastructural levels, damage configuration may differ considerably, depending on the three modes of irradiation. For each source there are both thermal and mechanical damage components and the significance of mechanical effects increases with decreasing pulse duration for a constant pulse energy. In the argon experiments, tissue destruction is predominantly a consequence of heat, resulting from conduction and convection. The subsequent regeneration of tissue after such heat-induced trauma is fast. The effects of the Nd:YAG laser, at the irradiance levels used in the present study, are again predominantly of a thermal nature and are caused by heating and local evaporation. The pigmented and the nonpigmented iris epithelium are destroyed and widespread decay of the stroma occurs over some months. Such damage never results in full repair. The most prominent feature of Q-switched ruby laser irradiations is their independence of the iris pigment content. In contrast, at the energy levels studied, the argon laser is entirely ineffective, whilst the effect of the Nd:YAG laser is much reduced in the absence of pigment. The consequences of these findings for the clinical applications of such lasers are discussed.

Animals↗
PubMed1976

Experimentally induced variations in the dark adaptation functions of a severe strabismic amblyope.

Dark adaptation curves were determined for an amblyopic and a normal control subject following a variety of preadaptation conditions. Sizable between-eye differences were found in the dark adaptation functions of only the amblyope; the magnitude of such differences varied with this subject's distance from the light preadapting screen and with the effective size of his pupils during the light preadaptation period. Marked differences were also found between the dark adaptation functions of both eyes of the amblyopic subject and those of the normal subject. The preadaptation-dependent changes in the dark adaptation function of the amblyopic subject are hypothesized to result from anomalies of amblyopic eye light adaptation which are referable to disturbances of retinal receptor alignment.

Age Factors↗
PubMed1996

Spectral sensitivity of photoreceptors mediating phase-shifts of circadian rhythms in retinally degenerate CBA/J (rd/rd) and normal CBA/N (+/+)mice.

Light-dark cycles are the most important time cue for the circadian system to entrain the endogenous circadian clock to the environmental 24 h cycle. Although photic entrainment of circadian rhythms is mediated by the eye in mammals, photoreceptors implicated in circadian photoreception remain unknown. In our previous study, retinally degenerate CBA/J (rd/rd) mice were found to have lower circadian photosensitivity for phase-shifting the locomotor activity rhythms than normal CBA/N(+/+) mice. In the present study, the spectral sensitivity for phase-shifting the rhythms was examined in order to characterize the photopigments involved in circadian photoreception of these mice. The spectral sensitivity of CBA/J-rd/rd mice clearly fitted to the Dartnall nomogram for a retinal(1)-based pigment with a maximum at 480 nm, while the best fitted nomogram had a maximum at 500 nm in CBA/N- +/+ mice. These results suggest that circadian photopigments involved in CBA/J-rd/rd and CBA/N- +/+ mice may be different.

Animals↗
PubMed1993

Reduced light sensitivity of the circadian clock in a hypopigmented mouse mutant.

Pink-eyed dilution (p/p) is a recessive mutation in mice which results in reduced pigmentation of the retinal pigment epithelium, as well as alterations in visual pathways and function. We investigated whether this mutation also affects light information reaching the circadian clock. Entrainment to a 12 h light 12 h dark cycle and the free-running period in constant darkness were not affected by this mutation. Phase shifts in response to 1 h light pulses consisting of bright white light at either circadian time 16 or 24 also did not differ between mutant and wild-type C57BL/6J mice. However, when 5 min, 502 nm light pulses of 1.2 x 10(-1) microW/cm2 or 4 x 10(-2) microW/cm2 were given at circadian time 16, the mutant mice responded with significantly smaller phase shifts than the wild-type mice. When animals were transferred to constant light, the free-running period of wild-type mice was longer than that of mutant mice, a finding which is consistent with a sensitivity difference between mutant and wild-type mice. Horseradish peroxidase tracing of retinal innervation of the hypothalamic suprachiasmatic nuclei (SCN)--the location of a circadian pacemaker--revealed a reduced innervation of the SCN in mutant mice compared with wild-type mice. The total volume of the SCN, as determined by neutral red stain, was also reduced in mutant mice, although not to as great an extent as the retinal innervation. Taken together, these results indicate that while basic characteristics of circadian clock function are not altered by the pink-eyed dilution mutation, the sensitivity of the clock to light is reduced.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1976

A comparison of the proteins found in developing wild type larvae and developing lethal mutant larvae of Drosophila melanogaster.

Extracts of late larval lethal mutants were compared with extracts of wild type larvae of the same developmental age on double diffusion plates using 16 different antisera. Nearly all of the mutant extracts showed relative antigen concentration differences compared with the wild type and four of the mutants lacked a protein at death found in the wild type of the same developmental age. In each case it was a different protein. The results are discussed by considering the different ways in which mutations can lead to the loss of a protein in developing systems.

Animals↗
PubMed1980

Butyrate suppression of position-effect variegation in Drosophila melanogaster.

The strain of Drosophila melanogaster carrying the inversion of In(1)wm4, which juxtaposes the normal w+ gene to the centromeric heterochromatin, variegages for pigmentation in the eye. This strain was treated with various concentrations of n-butyrate and n-proprionate during the embryonic and larval stages. Concentrations as low as 70 mM markedly suppress the variegated eye phenotype. This suggests that non-acetylated histones play a major role in the phenomenon of position-effect variegation.

Animals↗
PubMed1980

Genetic instability in Drosophila melanogaster: evidence for regulation, excision and transposition at the white locus.

An unstable long tandem duplication which includes the white locus twice, marked with wsp in the left and w17g in the right locus, when kept in males has been found to produce red-eyed sons which have lost the long duplication and with it the wsp and w17g mutants. Such exceptions were produced also when w17g had been exchanged for wa. Stocks originating from these exceptions are unstable, producing: 1) zeste males, also unstable, 2) w- deletions, stable, 3) transpositions of the white locus to sites in other chromosomes. The instability is interpreted as the effect of an IS element, within or adjacent to the white locus, which is supposed to retain a duplication of the proximal zeste interacting part of this locus. According to the orientation of the IS element the duplicated part can be active or inactive, giving a zeste or red eye phenotype. The frequency of exceptional offspring after X-ray treatment of the red and zeste unstable stocks have been compared to stable stocks with corresponding genotypes.

Animals↗
PubMed1994

Gene inactivation in Drosophila mediated by the Polycomb gene product or by position-effect variegation does not involve major changes in the accessibility of the chromatin fibre.

In Drosophila position effect variegation and Polycomb-dependent regulation of homeotic gene expression are phenomena in which genes are inactivated in a clonally inherited manner. In both processes inactivation involves proteins that interact with the chromosome at or close to the position of inactivated genes. Two models have been proposed to explain this form of genetic silencing. In one, cooperative concatamerisation of a large multisubunit protein complex packages the chromatin fibre into a higher order structure, which is inaccessible for the transcription apparatus. In the second, the chromatin fibre is left unaltered but the region to be silenced is assigned to a compartment within the nucleus to which not all transcription factors have access. To distinguish between these types of model we have used the ligation-mediated PCR procedure to quantitate the accessibility of restriction sites in the chromatin fibre in both the active and inactivated forms. By making use of appropriate mutations and tissues we show that the inactivation of genes by Polycomb or by position effect variegation is not accompanied by a substantial change in the accessibility of the fibre. These results favour models in which the inactivation is achieved by sequestration of the silenced region in a particular nuclear compartment rather than by a chromatin packaging model.

Animals↗
PubMed1994

Carnitine suppression of position-effect variegation in Drosophila melanogaster.

Carnitine is a well-known naturally occurring compound, very similar to butyrate, with an essential role in intermediary metabolism mainly at the mitochondrial level. Since butyrate inhibits the enzyme histone deacetylase and is capable of suppressing position-effect variegation in Drosophila melanogaster, we tested a further possible function of carnitine in the nucleus, using an assay for the suppression of position-effect variegation. We tested three physiological forms of carnitine (L-carnitine, L-propionylcarnitine, L-acetylcarnitine) for the ability to suppress two different chromosomal rearrangements, inducing variegation of the white+ and brown+ genes. The results show that the carnitine derivatives are capable of suppressing the position-effect variegation, albeit with different efficiencies. The carnitine derivatives interact lethally with Su-var(2-)1(01), a mutation that induces hyperacetylation of histones, whilst hyperacetylated histones accumulated in both the nuclei of HeLa cells and Drosophila polytene chromosomes treated with the same compounds. These results strongly suggest that the carnitine derivatives suppress position-effect variegation by a mechanism similar to that of butyrate. It is suggested that carnitines may have a functional role in the nucleus, probably at the chromatin level.

Alleles↗
PubMed1994

The determined state of white expression in the Drosophila eye is modified by zeste1 in the wzm family of mutants.

Analysis of the whitezeste mottled (wzm) mutant family suggests that the zeste gene product functions in establishing and stabilizing a transcriptionally active chromatin domain for white locus expression. The z1 mutation reduces expression of paired or proximate copies of white, while single or unpaired copies maintain wild-type levels of expression. The wzm mutation, caused by the insertion of the retrotransposon BEL into the 5' intron of white, alters the zeste-white interaction to produce a mottled eye phenotype in hemizygous z1 wzm males. We have determined the molecular structure of four wzm derivatives. wzl results from the insertion of an additional transposable element into the 5' regulatory region of white. wzvl is a deletion of sequences upstream of the white locus. Two others, whalo and wcres, result from the transposition of wzm plus the entire verticals-roughest region into heterochromatin near the tip of chromosome 3L. They variegate for roughest but not for white; rather, the z1 effect on wzm now causes white expression to become non-autonomous and non-clonal. The analysis of these five mutations shows that the neomorphic zeste1 product, in combination with structural changes imposed by transposons and intercalary heterochromatin, modifies the determination and stability of white expression. We propose that the normal zeste product functions as part of a complex that stimulates transcription by changing chromatin conformation to establish and maintain transcriptionally active domains. The unpairing of homologs is proposed to be one of the initial results of conformational change, providing an explanation for the role of zeste in transvection.

Alleles↗
PubMed1978

Familial occurrence of a syndrome with mental retardation, nasal hypoplasia, peripheral dysostosis, and blue eyes in Japanese siblings.

Two Japanese siblings, a 2-year-old girl and a 7-month-old boy, had a syndrome of mental retardation, severe nasal hyp9plasia, peripheral dysostosis, and blue eyes. The mother showed nasal hyp9plasia of lesser degree and a mild form of peripheral dysostosis. This disorder bears a striking similarity to acrodysostosis, but in view of certain novel features its relationship to the disease is uncertain. The mode of inheritance could be either dominant with variable expressivity or autosomal recessive.

Bone Diseases, Developmental↗
PubMed1995

Reflective organelles in the anterior pigment epithelium of the iris of the European starling Sturnus vulgaris.

The ultrastructure and chemical composition of reflective organelles in the anterior pigment epithelium of the iris of the European starling Sturnus vulgaris were examined. The reflective organelles produced a diffuse white reflectance at the iris mid-section which was visible only when the stroma was removed. The pigment granules were clear, angular, and birefringent under the light microscope. In electron micrographs the granules were irregular in shape and density, sometimes crystalline in appearance, but more often they were lost during sectioning or staining. Guanine was abundant in the modified pigment epithelium of the starling, but not in the pigment epithelia of other birds that lacked birefringent granules. Pteridines, such as xanthopterin and leucopterin, were present in small amounts. Pteridines were also present in the iris stroma which had no reflective organelles. The reflective organelles in the starling pigment epithelium resemble both the reflecting platelets of lower vertebrate chromatophores and the reflective granules in the tapeta of various vertebrates. Possible derivation of the organelles from these sources is discussed.

Animals↗
PubMed1985

Excision of copia element in a revertant of the white-apricot mutation of Drosophila melanogaster leaves behind one long-terminal repeat.

The spontaneous mutation white-apricot (wa) in Drosophila melanogaster has a considerably lighter eye colour than the wild-type, and is caused by the insertion of a copia transposable element into a small intron of the white gene. We have analyzed an X-ray induced wa revertant (waR59K1), whose eye pigmentation is incompletely restored, by in situ hybridization, Southern blotting and sequencing analysis. At the site where copia had originally inserted, we found one long terminal repeat of copia, flanked by a 5 bp duplication with the same polarity as the direction of transcription of the white locus. These results suggest that the wa reversion is due to homologous recombination between the two long terminal repeats of copia.

Animals↗
PubMed1977

Heterochromatin of the Drosophila melanogaster Y chromosome as modifier of position effect variegation: the time of its action.

Addition of heterochromatin suppresses while subtraction enhances position effect variegation. The heterochromatin-sensitive period has been determined in white/white-apricot variegated eyes of YSWa/Wa; Dp (1,3)W264-58 flies. When such larvae, carrying a Y-short (YS) arm at the distal end of one X chromosome, are X-rayed, mitotic recombination leads to one daughter cell with two YS arms and an adjacent daughter cell with no YS arm. When induced after clonal initiation, the frequency of dark clones developing from daughter cells with two YS arms is significantly higher than the frequency of dark clones in the rest of the eye; and this frequency is even higher when induced before clonal initiation. The modifying action of the Y-heterochromatin is exerted, therefore, during and after clonal initiation. Surprisingly, the frequency of dark clones developing from cells with no YS arm is not lower than the frequency of dark clones in the rest of the eye.

Animals↗