SEARCH · PubMed Health

Results for “Eye Color”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 163 records · Page 9Linked to original sources

PubMed1984

Transformation of white locus DNA in drosophila: dosage compensation, zeste interaction, and position effects.

P-element-mediated DNA transformation was used to generate transformants carrying segments of DNA from the white locus of D. melanogaster. The vast majority of transduced copies of an 11.7 or a 14.3 kb segment of DNA from white successfully rescued the white- eye-color phenotype when inserted in many different chromosomal locations. However, two transformants with abnormal eye pigmentation--apparently a consequence of the genomic positions of the transduced white gene--were also recovered. In all seven cases tested, autosomal insertions of white, which is dosage-compensated in its normal location on the X chromosome, retained the property of dosage compensation. In contrast to the relative insensitivity of eye-color pigmentation and dosage compensation to genomic position, the transduced white DNA segments differed widely in their interactions with the zeste mutation, ranging from greater than normal repression by zeste to insensitivity to the presence of zeste.

Animals↗

PubMed1994

Unusual properties of regulatory DNA from the Drosophila engrailed gene: three "pairing-sensitive" sites within a 1.6-kb region.

We have previously shown that a 2-kb fragment of engrailed DNA can suppress expression of a linked marker gene, white, in the P element vector CaSpeR. This suppression is dependent on the presence of two copies of engrailed DNA-containing P elements (P[en]) in proximity in the Drosophila genome (either in cis or in trans). In this study, the 2-kb fragment was dissected and found to contain three fragments of DNA which could mediate white suppression [called "pairing-sensitive sites" (PS)]. A PS site was also identified in regulatory DNA from the Drosophila escargot gene. The eye colors of six different P[en] insertions in the escargot gene suggest an interaction between P[en]-encoded and genome-encoded PS sites. I hypothesize that white gene expression from P[en] is repressed by the formation of a protein complex which is initiated at the engrailed PS sites and also requires interactions with flanking genomic DNA. Genes were sought which influence the function of PS sites. Mutations in some Polycomb and trithorax group genes were found to affect the eye color from some P[en] insertion sites. However, different mutations affected expression from different P[en] insertion sites and no one mutation was found to affect expression from all P[en] insertion sites examined. These results suggest that white expression from P[en] is not directly regulated by members of the Polycomb and trithorax group genes, but in some cases can be influenced by them. I propose that engrailed PS sites normally act to promote interactions between distantly located engrailed regulatory sites and the engrailed promoter.

Animals↗

PubMed1978

Effects of stimulus size, intensity, color, and eye strain on autokinetic movement: an error signal and noise analysis.

In two experiments, with a total of 116 male and female undergraduate S s, predictions were tested from the following hypothesized explanation of autokinetic movement (AKM): undetected eye drifts lead to movement of the AKM target across the retina; this movement or error signal leads to the initiation of a cancelling response, and the AKM is directly due to CNS monitoring of the efferent responses or signals sent to the eye muscles with subsequent detection of these signals against a background of efferent noise. The error signal variables studied were stimulus color (yellow or blue-green), stimulus intensity (dim or bright), and stimulus size (1.0 or .1 deg visual angle). Small, dim lights foveally viewed and yellow as opposed to blue-green lights led to significantly more error signals and hence more AKM as measured by mean number of perceived direction changes. Also, increasing retinal displacement by changing viewing angle (from zero to 60 deg) or increasing displacement by increasing diopter strength of prisms (from zero to 30) decreased AKM as measured by number of direction changes, and this effect is due at least in part to the increase in efferent noise caused by the increases in eye muscle tension involved. It was concluded that retinal displacement affects both error signal and noise variables in the AKM and, presumably, in the perception of real movement as well.

Color Perception↗

PubMed1988

Genetics of an unstable white mutant in Drosophila simulans: reversion, suppression and somatic instability.

A spontaneous white mutation, white-milky (wmky) of Drosophila simulans is moderately unstable and is associated with a 16-kb long DNA insertion into the white gene. wmky, which is an unstable mutation found in D. simulans, has been genetically analyzed. Among nine spontaneous, partial reversions toward wild type, five were white locus mutations. They are phenotypically different from each other and three show eye color sexual dimorphism indicating a failure of the dosage compensation mechanism. Two w locus mutations whose eye color appeared identical between males and females were also isolated. Of the other back-mutants, three were associated with a recessive suppressor of wmky and one was a semidominant suppressor. These suppressor loci are located on the third chromosome at map positions about 90 and 120, respectively. The suppressor mutations demonstrate specific effects on w locus mutations derived from wmky which lack in the gene dosage compensation. Somatic instability was detected at the frequency of 5.6 X 10(-4) in wmky flies heterozygous for the recessive suppressor and the frequency was increased 10-fold when the suppressor mutation was placed in a different genetic background.

Alleles↗

PubMed1998

Mariner transposition and transformation of the yellow fever mosquito, Aedes aegypti.

The mariner transposable element is capable of interplasmid transposition in the embryonic soma of the yellow fever mosquito, Aedes aegypti. To determine if this demonstrated mobility could be utilized to genetically transform the mosquito, a modified mariner element marked with a wild-type allele of the Drosophila melanogaster cinnabar gene was microinjected into embryos of a kynurenine hydroxylase-deficient, white-eyed recipient strain. Three of 69 fertile male founders resulting from the microinjected embryos produced families with colored-eyed progeny individuals, a transformation rate of 4%. The transgene-mediated complementation of eye color was observed to segregate in a Mendelian manner, although one insertion segregates with the recessive allele (female-determining) of the sex-determining locus, and a separate insertion is homozygous lethal. Molecular analysis of selected transformed families demonstrated that a single complete copy of the construct had integrated independently in each case and that it had done so in a transposase-mediated manner. The availability of a mariner transformation system greatly enhances our ability to study and manipulate this important vector species.

Aedes↗

PubMed1977

Mechanism of suppression in Drosophila. V. Localization of the purple mutant of Drosophila melanogaster in the pteridine biosynthetic pathway.

The suppressible eye color mutant purple (pr) of Drosophila melanogaster is known to be unable to synthesize a wild-type complement of pteridine eye pigments. This study measures the reduced levels of drosopterins, sepiapterin, and an unidentified presumed pteridine in pr and prbw. Pteridine analyses in double mutants combining pr with one of three other eye color mutants sepia, Henna-recessive3, and prune2, suggest that the metabolic block in pr occurs prior to sepiapterin biosynthesis. Measurements of GTP and GTP cyclohydrolase in pr showed wild-type levels and indicate the metabolic block in pr to be at one of the steps converting dihydroneopterin triphosphate to sepiapterin. Quantitation of pteridines in suppressed purple [su(s)2; pr and pr; su(pr)e3] shows restoration of pteridines to wild-type or nearly wild-type levels.

Aging↗

PubMed1986

Eye disease and color defects.

The groundwork for understanding color defects in eye disease was established by the end of the nineteenth century. Thereafter the field was neglected as scientists concentrated on studies of normal color vision and congenital color vision defects. Spurred by the development of the Farnsworth 100 hue-test, interest was renewed in the 1950s. The past 25 years have seen an explosion of interest in color defects in eye disease. The International Research Group on Color Vision Deficiencies has played an important role in this activity. The development of new clinical tests and instruments as well as refinement of laboratory techniques are among the important developments.

Color Perception Tests↗

PubMed1996

Transgene Coplacement and high efficiency site-specific recombination with the Cre/loxP system in Drosophila.

Studies of gene function and regulation in transgenic Drosophila are often compromised by the possibility of genomic position effects on gene expression. We have developed a method called transgene coplacement, in which any two sequences can be positioned at exactly the same site and orientation in the genome. Transgene coplacement makes use of the bacteriophage P1 system of Cre/loxP site-specific recombination, which we have introduced into Drosophila. In the presence of a cre transgene driven by a dual hsp70-Mos1 promoter, a white reporter gene flanked by loxP sites is excised with virtually 100% efficiency both in somatic cells and in germ cells. A strong maternal effect, resulting from Cre recombinase present in the oocyte, is observed as white or mosaic eye color in F1 progeny. Excision in germ cells of the F1 yields a strong grand-maternal effect, observed as a highly skewed ratio of eye-color phenotypes in the F2 generation. The excision reactions of Cre/loxP and the related FLP/FRT system are used to create Drosophila lines in which transgenes are at exactly allelic sites in homologous chromosomes.

ATP-Binding Cassette Transporters↗

PubMed1982

Ultrastructural, histochemical, and biochemical studies of the melanin metabolism in eye and skin of pallid mice.

The hair follicles and the eyes of pallid mice (C57/6J-Pa/Pa) and those of black mice (C57/6J-+/Pa) were examined ultrastructurally, histochemically, and biochemically to determine the cause of pigment dilution. The pigment cells in the hair follicles and the eyes of pallid mice have less mature melanosomes than those of black mice. In the hair follicles the pallid melanosomes were transferred into keratinocytes and became aggregated. In the eyes they were already aggregated within the pigment cells and were digested in acid phosphatase-positive lysosomes. The activity of acid phosphatase, a marker of lysosomal enzymes was significantly higher in pallid hair follicles and eyes than in black hair follicles and eyes. Dopa reactions at light and electron microscopical level indicated that the pigment cells in each tissue produced a large amount of Dopa oxidase when compared with those in each black counterpart. However, the rate of hydroxylation of L-tyrosine-3,5-3H was significantly lower in the pallid eyes than in black eyes, while this rate was significantly higher in pallid hair follicles than in black hair follicles. Immediate digestion of melanosomes within the pigment cells, i.e., autophagocytosis, seemed to explain the low activity in the pallid eyes. The diluted coat and eye colors of pallid mice are, therefore, not related to low Dopa oxidase activity but to immaturity of melanosomes and high activities of lysosomal enzymes; these enzymes seem to digest many of these immature melanosomes and contribute to the diluted coat and eye colors of pallid mice.

Animals↗

PubMed1992

[Enhancer-of-white-apricot and its effects on the copia insertion allele white-apricot in Drosophila melanogaster].

In Drosophila melanogaster, the w(a) allele differs from the red-eye gene (w+) by the insertion of the retrovirus-like transposable element copia within the transcription unit. The w(a) flies have the apricot eye color. Most RNAs derived from w(a) have 3' termini within the 3' LTR of copia, and only small amounts of structurally normal RNA are produced. The eye color of flies with w(a) is affected by the gene Enhancer-of-white-apricot [E(w(a))] and become lighter. This effect on pigmentation is correlated with a corresponding decrease in white RNA having wild-type structure which was determined by the Northern blot. Three revertant alleles of E(w(a)) was generated by the irradiation with gamma-ray. These alleles are recessive lethals with death occurring during the larval stage. The original E(w(a)) allele is an antimorph and produces a product that interferes with the activity of the wild-type gene which have the product expected to either have a positive role in the splicing of w(a) RNAs or a negative role in polyadenylation.

Alleles↗

PubMed1981

Skin and eye diseases among arc welders those exposed to welding operations.

The prevalence of skin and eye abnormalities was determined in 77 journeymen welders, 75 members of other trades exposed to welding operations and 58 non-exposed comparison workers. Characteristics including possible risk factors for skin cancer were compared among the groups. Localized cutaneous erythema was frequent in welders and occasional in other exposed workers. Small cutaneous scars were frequent in welders. There was no significant difference in the prevalence of actinic elastosis by occupational group; however, the degree of elastosis was significantly associated with type of complexion, original hair color, eye color, childhood freckling poor ability to tan and ease of sunburning. There were no significant difference among the groups in the prevalence of various dermatoses, skin tumors, alterations in visual acuity or clinical ocular abnormalities on slit lamp biomicroscopy and fundoscopy apart from variations in the amount of dust in the lids. The observed prevalences of skin and eye diseases may provide useful comparative data.

Adult↗

PubMed1971

Eye lens color: formation and function.

Aromatic amino acids are photooxidized by near-ultraviolet light to colored products that are bound very tightly to protein amino groups. The resulting colored proteins absorb near-ultraviolet light more strongly and are rendered more hydrophobic than the untreated compounds, and they fluoresce at 440 nanometers when excited at 360 nanometers. Coloration in the lenses of diurnally active animals (including man) may be caused by this reaction, and senile cataracts may result. Such changes in many other proteins (as in the skin and retina) could lead to more serious consequences.

Aging↗

PubMed1997

Analysis of blink rate patterns in normal subjects.

The present study measured the normal blink rate (BR) variations in relation to behavioral tasks in 150 healthy volunteers (70 males and 80 females; aged 35.9 +/- 17.9 years, range 5-87 years). The subjects were videotaped in a standard setting while performing three different tasks: resting quietly, reading a short passage, talking freely. The mean BR was computed during each task; the data were compared by means of analysis of variance and Student's t tests. Mean BR at rest was 17 blinks/min, during conversation it increased to 26, and it was as low as 4.5 while reading. As compared with rest, BR decreased by -55.08% while reading (p < 1 x 10(-15)) and increased by 99.70% during conversation (p < 1 x 10(-9)). As compared with reading, BR increased during conversation by 577.8% (p < 1 x 10(-17). The distribution curves were highly reproducible in each task. The best curve fit was represented by a log-normal distribution, with the upper tail of each curve having a normal distribution. Eye color and eyeglass wearing did not influence BR. Women had higher BR than men just while reading. No age-related differences were found. The most common BR pattern was conversation > rest > reading, which occurred in 101 subjects (67.3%); 34 subjects (22.7%) had the pattern rest > conversation > reading; 12 (8.0%) had the pattern conversation > reading > rest. This study identified three normal behavioral BR patterns and showed that BR is more influenced by cognitive processes than by age, eye color, or local factors. The present findings provide a normal reference for the analysis of BR in movement disorders such as dystonia or tics.

Adolescent↗

PubMed1995

The white gene of Ceratitis capitata: a phenotypic marker for germline transformation.

Reliable germline transformation is required for molecular studies and ultimately for genetic control of economically important insects, such as the Mediterranean fruit fly (medfly) Ceratitis capitata. A prerequisite for the establishment and maintenance of transformant lines is selectable or phenotypically dominant markers. To this end, a complementary DNA clone derived from the medfly white gene was isolated, which showed substantial similarity to white genes in Drosophila melanogaster and other Diptera. It is correlated with a spontaneous mutation causing white eyes in the medfly and can be used to restore partial eye color in transgenic Drosophila carrying a null mutation in the endogenous white gene.

ATP-Binding Cassette Transporters↗

PubMed2000

The prevalence of seborrheic keratoses in people aged 15 to 30 years: is the term senile keratosis redundant?

BACKGROUND: Seborrheic keratoses (SKs) are common skin lesions that have been shown to occur with increasing age, although the age of onset is not well recorded. OBJECTIVE: To determine the prevalence, nature, and distribution of SKs in young people. METHODS: One hundred seventy people aged 15 to 30 years were given a total body examination during which the presence, number, site, and size of SKs were recorded. Biopsy specimens were taken from the first 22 people who had lesions clinically diagnosed as SKs. Data on age, skin type, eye color, and hair color were recorded for all respondents. RESULTS: Forty (23.5%) of 170 respondents had at least one SK, with no significant difference between the sexes. There was an increase in prevalence with age from 15.7% in 15- to 19-year-olds to 32.3% in those aged 25 to 30 years. The size of the SKs also increased with age. A total of 77.5% of SKs were found on the trunk and 22.5% on the limbs, head, and neck. There was no correlation between SKs and any particular hair and eye color or skin type. CONCLUSIONS: These findings confirm that SKs are common lesions in young Australians, appearing in a substantial proportion of people younger than 30 years. The term senile keratosis is no longer appropriate for these lesions.

Adolescent↗

PubMed1996

The somatic white-ivory eye spot test does not detect the same spectrum of genotoxic events as the wing somatic mutation and recombination test in Drosophila melanogaster.

A groups of six chemical compounds was tested in parallel in two different somatic genotoxicity assays in Drosophila melanogaster, the wing somatic mutation and recombination test (SMART) and the white-ivory eye spot test. The wing spot test makes use of the wing cell markers multiple wing hairs (mwh) and flare (flr) and detects both mitotic recombination and various types of mutational events. The white-ivory eye spot test makes use of the white-ivory (wi) quadruplication and detects the somatic reversion of the recessive eye color mutation wi to the wild-type (w+). Three- or two-day-old larvae were fed chronically with the compounds ethylnitrosourea (ENU), N-nitrosopyrrolidine (NNP), caffeine (CAF), chromium (VI) oxide (CRO), potassium chromate (POC), and 2,4-dichlorophenoxyacetic acid (2,4-D). All six compounds are genotoxic to various degrees in the wing spot test. The percentage of the genotoxic activity that is due to mitotic recombination was between 84% and 91% for the hexavalent chromium compounds CRO and POC and about 68% for 2,4-D. In contrast, ENU and NNP showed only 46% and 25% recombinagenic activity, respectively. In the white-ivory eye spot test, the three compounds (CRO, POC, and 2,4-D) with high recombinagenic activity and CAF were clearly nongenotoxic, whereas only ENU and NNP gave a positive response. From these results, it is concluded that the spectrum of genotoxic events detected by the two assays is different. In particular, the white-ivory eye spot test appears not to detect mitotic recombination the way the wing spot test does.

2,4-Dichlorophenoxyacetic Acid↗

PubMed1998

Human matrix attachment regions insulate transgene expression from chromosomal position effects in Drosophila melanogaster.

Germ line transformation of white- Drosophila embryos with P-element vectors containing white expression cassettes results in flies with different eye color phenotypes due to position effects at the sites of transgene insertion. These position effects can be cured by specific DNA elements, such as the Drosophila scs and scs' elements, that have insulator activity in vivo. We have used this system to determine whether human matrix attachment regions (MARs) can function as insulator elements in vivo. Two different human MARs, from the apolipoprotein B and alpha1-antitrypsin loci, insulated white transgene expression from position effects in Drosophila melanogaster. Both elements reduced variability in transgene expression without enhancing levels of white gene expression. In contrast, expression of white transgenes containing human DNA segments without matrix-binding activity was highly variable in Drosophila transformants. These data indicate that human MARs can function as insulator elements in vivo.

ATP-Binding Cassette Transporters↗

PubMed1982

Genetic instability in Drosophila melanogaster: deletion induction by insertion sequences.

Females of Drosophila melanogaster heteroallelic or homoallelic for X chromosome giant (gt) mutants generate deletions involving the wild-type alleles at two X chromosome gene loci: yellow body color (y) and white eye color (w). The deletions, bidirectional in the case of y and with fixed endpoint in the case of w, are associated with particular X chromosomes. Distinctive insertion sequences, located proximal to the target loci, are presumed to generate the deletions.

Animals↗