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At least 127 records · Page 7Linked to original sources
PubMed1982

The unstable wDZL mutation of Drosophila is caused by a 13 kilobase insertion that is imprecisely excised in phenotypic revertants.

We have analyzed the lesion in wDZL, a genetically unstable mutant allele of the eye color locus, white, of Drosophila melanogaster. We have cloned the DNA of the white locus region of flies carrying the wDZL allele and find a 13 kilobase insertion not present in the wild-type at the corresponding location. In 12 independent cases examined, reversion to a wild-type eye color phenotype correlates with the excision of a portion of this 13 kilobase insertion, indicating that the insertion is the cause of the mutation. The portion of the insertion that is excised in these eye color revertants is heterogeneous in size but appears to include the central 6 kilobases of the insertion in all cases. Many of these eye color revertants continue to undergo mutation at the white locus, indicating that the residual portion of the insertion in these revertants is sufficient to promote mutations.

Alleles↗
PubMed1989

Iris pigmentation and sociability in childhood: a re-examination.

Drawing from Rosenberg and Kagan's (1987) finding of an association between iris pigmentation and behavioral inhibition in early childhood, we sought, in the present investigation, to examine the developmental relation between eye color and social withdrawal in kindergarteners and children in grades 2 and 4. In kindergarten and grade 2, blue-eyed children were found to be overrepresented in groups of extremely withdrawn youngsters. No association was found between eye color and withdrawal in grade 4 or between eye color and extreme sociability at any grade. The results were interpreted as suggestive of the increasing role, with age, of social factors in the determination of extremely inhibited behavior.

Age Factors↗
PubMed1986

Pigment patterns in mutants affecting the biosynthesis of pteridines and xanthommatin in Drosophila melanogaster.

Eye-color mutants of Drosophila melanogaster have been analyzed for their pigment content and related metabolites. Xanthommatin and dihydroxanthommatin (pigments causing brown eye color) were measured after selective extraction in acidified butanol. Pteridines (pigments causing red eye color) were quantitated after separation of 28 spots by thin-layer chromatography, most of which are pteridines and a few of which are fluorescent metabolites from the xanthommatin pathway. Pigment patterns have been studied in 45 loci. The pteridine pathway ramifies into two double branches giving rise to isoxanthopterin, "drosopterins," and biopterin as final products. The regulatory relationship among the branches and the metabolic blockage of the mutants are discussed. The Hn locus is proposed to regulate pteridine synthesis in a step between pyruvoyltetrahydropterin and dihydropterin. The results also indicate that the synthesis and accumulation of xanthommatin in the eyes might be related to the synthesis of pteridines.

Amino Acids↗
PubMed1985

Tissue-specific and complex complementation patterns in the Punch locus of Drosophila melanogaster.

Mutations in the Punch locus result in loss of GTP cyclohydrolase activity, but all mutations do not affect the enzyme in the same way. There are at least three classes of Punch mutations. One class results in a dominant eye color, recessive lethal phenotype. A second class of mutations also causes a recessive lethal phenotype, but heterozygous mutants have normal eye color. They show loss of GTP cyclohydrolase function in all tissues where activity can be measured. Alleles comprising a third class are recessive eye color mutations that are homozygous viable. Individuals with this third type of mutation show loss of enzyme activity in the eye, but show normal or near-normal activity elsewhere. In order to examine the organization and function of this locus further, we have performed interallelic complementation tests on 25 Punch mutations, monitoring viability and enzyme activity in prepupae and adults. Most allele combinations are lethal. Those that complement do so in ways that are tissue-or stage-specific and unpredictable. Tests of mutants with tissue-specific phenotypes and of individuals mutant for complementing Punch lethal alleles lead us to conclude that Punch is a complex locus, both with respect to its organization and to its products.

Alleles↗
PubMed1991

Introduction of the transposable element mariner into the germline of Drosophila melanogaster.

A chimeric white gene (wpch) and other constructs containing the transposable element mariner from Drosophila mauritiana were introduced into the germline of Drosophila melanogaster using transformation mediated by the P element. In the absence of other mariner elements, the wpch allele is genetically stable in both germ cells and somatic cells, indicating that the peach element (i.e., the particular copy of mariner inserted in the wpch allele) is inactive. However, in the presence of the active element Mos1, the wpch allele reverts, owing to excision of the peach element, yielding eye-color mosaics and a high rate of germline reversion. In strains containing Mos1 virtually every fly is an eye-color mosaic, and the rate of wpch germline reversion ranges from 10 to 25%, depending on temperature. The overall rates of mariner excision and transposition are approximately sixfold greater than the rates in comparable strains of Drosophila simulans. The activity of the Mos1 element is markedly affected by position effects at the site of Mos1 insertion. In low level mosiac lines, dosage effects of Mos1 are apparent in the heavier level of eye-color mosaicism in Mos1 homozygotes than in heterozygotes. However, saturation occurs in high level mosaic lines, and then dosage effects are not observed. A pBluescribe M13+ plasmid containing Mos1 was injected into the pole plasm of D. melanogaster embryos, and the Mos1 element spontaneously integrated into the germline at high efficiency. These transformed strains of D. melanogaster presently contain numerous copies of mariner and may be useful in transposon tagging and other applications.

Alleles↗
PubMed1990

Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations.

The murine dilute suppressor gene, dsu, was previously shown to suppress the dilute coat color phenotypes of mice homozygous for the dilute (d), leaden (ln), and ashen (ash) mutations. Each of these mutations produce adendritic melanocytes, which results in an abnormal transportation of pigment granules into the hair shaft and a diluted coat color. The suppression of each mutation is associated with the restoration of near normal melanocyte morphology, indicating that dsu can compensate for the absence of normal d, ln and ash gene products. In experiments described here, we have determined whether dsu can suppress the coat color phenotype of 14 additional mutations, at 11 loci, that affect coat color by mechanisms other than alterations in melanocyte morphology. In no case was dsu able to suppress the coat color phenotype of these 14 mutations. This suggests that dsu acts specifically on coat color mutations that result from an abnormal melanocyte morphology. Unexpectedly, dsu suppressed the ruby eye color of ruby-eye (ru) and ruby-eye-2 (ru-2) mice, to black. The exact nature of the defect producing these two mutant phenotypes is unknown. Histological examination of the pigmented tissues of the eyes of these mice indicated that dsu suppresses the eye color by increasing the overall level of pigmentation in the choroid but not the retinal pigmented epithelium. Choroid melanocytes, like those in the skin, are derived from the neural crest while melanocytes in the retinal pigmented epithelium are derived from the optic cup. This suggests that dsu may act specifically on neural crest-derived melanocytes. These studies have thus identified a second group of genes whose phenotypes are suppressed by dsu and have provided new insights into the mechanism of action of dsu.

Animals↗
PubMed1990

Low-pigment skin type and predisposition for development of type I diabetes.

To ascertain whether skin pigmentation type and sensitivity to ultraviolet (UV) light are associated with susceptibility to type I (insulin-dependent) diabetes, 55 type I diabetic patients were examined, 38 new-onset and 17 long-term cases. They were compared to 72 control subjects of the same geographic region and nationality. To evaluate the individual skin pigmentation type, a standardized questionnaire was developed. Reactivity to UV light was determined by a stepwise-graded UV irradiation. Significantly more diabetic patients in southern Germany had blue eyes than nondiabetic control subjects (55 vs. 26%, P less than 0.01), and significantly more diabetic patients had a low-pigment eye color (blue or green) than control subjects (66 vs. 38%, P less than 0.01). In addition, more fair skin color was noted among diabetic versus control subjects (84 vs. 60%, P less than 0.01). In response to UV irradiation, diabetic patients more often showed an increased UV-light sensitivity than control subjects (83 vs. 23%, P less than 0.001). The relative risk for susceptibility to type I diabetes in subjects with low-pigment eye color was 3.1, in subjects with fair skin type 3.4, and in subjects with increased UV-light sensitivity 5.8. The highest risk for the development of diabetes was seen in subjects who had low-pigment eye color and/or increased UV-light sensitivity (95 vs. 51%, P = 0.00002, odds ratio 17.4). We conclude that a low-pigment skin type may predispose for the development of type I diabetes.

Adult↗
PubMed2026

Phenotypic and genotypic risk factors for uveal melanoma in a high ambient UV radiation environment.

BACKGROUND: Most evidence regarding risk factors for uveal melanoma (UM) derives from case-control studies prone to recall bias, and its rarity has limited prospective research. To address these gaps, we applied a population-based case-control design incorporating polygenic risk scores and Mendelian randomization to explore genetic and phenotypic determinants of UM risk. METHODS: The study was conducted in Queensland, Australia. Incident UM cases diagnosed between 2011 and 2022 were recruited through specialist ocular oncology clinics. Controls were participants in the QSkin Sun and Health Study, a prospective cohort of 43,794 adults aged 40-69 at baseline (2010-2011). Demographic, phenotypic, and sun exposure factors were harmonized across studies. Polygenic risk scores were calculated for pigmentation traits and nevi characteristics using genome-wide association study datasets, and Mendelian randomization was used to assess potential causal relationships with UM risk. RESULTS: Among 485 UM cases and 43,724 controls, several phenotypic traits were strongly associated with UM risk: male sex, blue or light eye color, inability to tan, freckling, and high nevus density. A family history of cutaneous melanoma and a personal history of keratinocyte cancer were also associated with higher risk. Polygenic risk score analyses confirmed significant associations for eye color and freckling. Mendelian randomization analyses supported causal relationships between lighter eye color, freckling propensity, reduced tanning ability and UM risk. CONCLUSIONS: These findings provide genetic evidence supporting a causal role for pigmentation-related traits in UM susceptibility. IMPACT: This evidence may help refine risk assessment and inform counselling for individuals with suspicious ocular lesions.

Journal Article↗
PubMed1976

Extension of the limits of the XDH structural element in Drosophila melanogaster.

Experiments expanding the array of mutants affecting the xanthine dehydrogenase (XDH) structural element in Drosophila melanogaster are described. These include rosy eye color mutants which exhibit interallelic complementation, and mutants with normal eye color but lowered levels of XDH. Evidence is presented which argues that these are structural alterations in the enzyme. Recombination experiments were performed using these mutants as well as some electrophoretic variants. The two ends of the rosy locus are marked with mutant sites which are clearly structural in nature; the XDH structural element and the rosy null mutant map are completely concordant. A possible procedure to recover control element mutants is described.

Animals↗
PubMed1977

A photometric study of the color of health gingiva.

An apparatus was developed that was found suitable for measuring gingival color in terms of reflectance at 6328 A. A total of 445 readings were taken on 95 Caucasian subjects in order to determine certain properties of healthy gingival color. It was determined that: 1. Healthy adult gingival color ranged in reflectance from 17% to 45% of the magnesium oxide standard, with a mean of 32%. 2. Gingival color of children was lighter than that of adults. The reflectance of children's gingiva ranged from 31% to 43%, with a mean of 35%. 3. Gingival color did not vary with the sex of the individual. 4. Gingival color was lighter in individuals with blonde hair than in individuals with brown hair. 5. Gingival color was darker in individuals with darker eye color. 6. Gingival color was lighter in individuals with geographic origins that are commonly related to lighter complexions. 7. Gingival color did not vary with age, within the adult range covered in this study. 8. Gingival color did not vary with the following physiological and physical factors: menstrual period, use of oral contraceptives, smoking habits, moistness or dryness of the gingiva, which side was measured, time of day, or time after toothbrushing, smoking a cigarette, eating an apple, or drinking a hot beverage.

Adult↗
PubMed1989

Physical and physiological correlates of behavioral inhibition.

Previous investigations have suggested that the temperamental quality of inhibition is related to the threshold of reactivity to unfamiliar events within certain limbic structures. In earlier work, children in three independent samples who had been selected to be inhibited were more likely to have blue than brown eyes, whereas uninhibited children were more likely to have brown eyes. The present study, which selected two-year-old children on the basis of eye color (blue or brown) rather than behavior, found a significant association between blue eyes and behavioral inhibition, and between brown eyes and an uninhibited style. Although the inhibited children were more likely to have a high and stable heart rate than were the uninhibited children, there was no relation between eye color and these cardiac measures. Several interpretations of the association between these temperamental categories and iris pigmentation are proposed.

Arousal↗
PubMed1995

A genetic analysis of the Suppressor 2 of zeste complex of Drosophila melanogaster.

The zeste1 (z1) mutation of Drosophila melanogaster produces a mutant yellow eye color instead of the wild-type red. Genetic and molecular data suggest that z1 achieves this change by altering expression of the wild-type white gene in a manner that exhibits transvection effects. There exist suppressor and enhancer mutations that modify the z1 eye color, and this paper summarizes our studies of those belonging to the Suppressor 2 of zeste complex [Su(z)2-C]. The Su(z)2-C consists of at least three subregions called Psc (Posterior sex combs), Su(z)2 and Su(z)2D (Distal). The products of these subregions are proposed to act at the level of chromatin. Complementation analyses predict that the products are functionally similar and interacting. The alleles of Psc define two overlapping phenotypic classes, the hopeful and hapless. The distinctions between these two classes and the intragenic complementation seen among some of the Psc alleles are consistent with a multidomain structure for the product of Psc. Psc is a member of the homeotic Polycomb group of genes. A general discussion of the Polycomb and trithorax group of genes, position-effect variegation, transvection, chromosome pairing and chromatin structure is presented.

ATP-Binding Cassette Transporters↗
PubMed1998

Shyness and little boy blue: iris pigmentation, gender, and social wariness in preschoolers.

In recent years, researchers have uncovered a link between iris pigmentation and inhibition/social wariness among young children (e.g., Rosenberg & Kagan, 1987, 1989; Rubin & Both, 1989). In the present study, 152 Caucasian preschool-aged (Mage = 54.09 months, SD = 5.84) children (77 males) with either blue (n = 84) or brown (n = 68) eyes, were compared in terms of parental and teacher ratings of social wariness, social play, and aggression. A significant Eye Color x Gender Interaction was found in terms of indices of social wariness; blue-eyed males were rated as more socially wary than brown-eyed males, while blue- and brown-eyed females did not differ in this regard. These results supported the notion that eye color is a marker variable for social wariness in young children.

Aggression↗
PubMed1982

Structure of the Drosophila mutable allele, white-crimson, and its white-ivory and wild-type derivatives.

The white locus in Drosophila is required for a normal brick-red eye color; deletions of this locus result in a bleached-white eye color. The white-crimson (wc) allele of white was isolated as a partial revertant of another mutant white allele, white-ivory (wi), a mutation due to duplication of sequences within the white locus. The wc allele reverts at high frequencies to wild-type and wi phenotypes and generates white-eyed derivatives, including deletions with one endpoint at the white locus. We analyzed the structure of the wc allele by molecular cloning and by Southern blot analysis of genomic DNA and found that the wc phenotype results from the insertion of a 10 kilobase DNA sequence into the wi duplication. Five independent phenotypic revertants of wc to wi were examined, and in each case reversion was accompanied by apparently precise excision of the insertion. Reversion of wc to a wild-type phenotype in each of the six cases examined was mediated by excision of both the insertion and one copy of the wi duplication, restoring gene structure to wild-type.

Alleles↗
PubMed1981

Some non-auditory correlates of the hearing threshold levels of an aviation noise-exposed population.

In a retrospective analysis of data collected during the 1963 followup of the NAMRL Thousand Aviator Study, two hearing level groups were identified, normal and impaired, and compared along 33 non-auditory dimensions. It was discovered that these two equally noise-exposed groups could be differentiated according to their smoking history and eye color. That is, the impaired hearing group reported smoking more cigarettes for a greater period of time than did the members of the normal hearing group. Furthermore, blue-eye individuals were over-represented in the impaired hearing group and under-represented in the normal hearing group, whereas the reverse was true for brown-eyed aviators. This latter finding is consistent with reports linking temporary hearing loss and eye color. There was 31 other physical, psychological, and sociological measures which failed to appear differentially in the two groups.

Adult↗
PubMed1996

Structure and expression of wild-type and suppressible alleles of the Drosophila purple gene.

Viable mutant alleles of purple (pr), such as prbw, exhibit mutant eye colors. This reflects low 6-pyruvoyl tetrahydropterin (PTP) synthase activity required for pigment synthesis. PTP synthase is also required for synthesis of the enzyme cofactor biopterin; presumably this is why some pr alleles are lethal. The prbw eye color phenotype is suppressed by suppressor of sable [su(s)] mutations. The pr gene was cloned to explore the mechanism of this suppression. pr produces two PTP synthase mRNAs: one constitutively from a distal promoter and one in late pupae and young adult heads from a proximal promoter. The latter presumably supports eye pigment synthesis. The prbw allele has a 412 retrotransposon in an intron spliced from both mRNAs. However, the head-specific mRNA is reduced > 10-fold in prbw and is restored by a su(s) mutation, while the constitutive transcript is barely affected. The Su(s) protein probably alters processing of RNA containing 412. Because the intron containing 412 is the first in the head-specific mRNA and the second in the constitutive mRNA, binding of splicing machinery to nascent transcripts before the 412 insertion is transcribed may preclude the effects of Su(s) protein.

Alcohol Oxidoreductases↗