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PubMed1996

The Tryptophan oxygenase gene of Anopheles gambiae.

The Anopheles gambiae gene encoding tryptophan oxygenase, a homolog of the Drosophila melanogaster vermilion gene, has been molecularly cloned and characterized. Unlike Drosophila, where it is X-linked, the A. gambiae gene maps to chromosome 2R, subdivision 12E, by in situ hybridization to the polytene chromosomes. Of the six introns present, four are positioned identically to those of the Drosophila homolog, one is similarly positioned, and one is novel. A 1 955 nt cDNA potentially encodes a 392 amino acid protein of an estimated 45 kDa. Amino acid comparisons between the deduced protein and previously known tryptophan oxygenases revealed 74% identity between Anopheles and Drosophila, and 53% identity between Anopheles and nematode or mammalian proteins. Northern analysis detected a developmentally regulated transcript about 2 kb in length. Since this gene is known to control adult eye color in other flies, its cloning from A. gambiae provides the basis for a dominant phenotypic marker for germline transformation, one whose expression, unlike that of white, is not cell autonomous.

Amino Acid Sequence↗
PubMedDate not supplied

The Tennessee Mouse Genome Consortium: identification of ocular mutants.

The Tennessee Mouse Genome Consortium (TMGC) is in its fifth year of a ethylnitrosourea (ENU)-based mutagenesis screen to detect recessive mutations that affect the eye and brain. Each pedigree is tested by various phenotyping domains including the eye, neurohistology, behavior, aging, ethanol, drug, social behavior, auditory, and epilepsy domains. The utilization of a highly efficient breeding protocol and coordination of various universities across Tennessee makes it possible for mice with ENU-induced mutations to be evaluated by nine distinct phenotyping domains within this large-scale project known as the TMGC. Our goal is to create mutant lines that model human diseases and disease syndromes and to make the mutant mice available to the scientific research community. Within the eye domain, mice are screened for anterior and posterior segment abnormalities using slit-lamp biomicroscopy, indirect ophthalmoscopy, fundus photography, eye weight, histology, and immunohistochemistry. As of January 2005, we have screened 958 pedigrees and 4800 mice, excluding those used in mapping studies. We have thus far identified seven pedigrees with primary ocular abnormalities. Six of the mutant pedigrees have retinal or subretinal aberrations, while the remaining pedigree presents with an abnormal eye size. Continued characterization of these mutant mice should in most cases lead to the identification of the mutated gene, as well as provide insight into the function of each gene. Mice from each of these pedigrees of mutant mice are available for distribution to researchers for independent study.

Animals↗
PubMed2003

Otoacoustic emissions, auditory evoked potentials, and traits related to sex and sexual orientation.

A number of trait measures, possibly reflective of prenatal hormonal effects, were obtained in studies of otoacoustic emissions (OAEs) and auditory evoked potentials (AEPs) carried out with male and female heterosexual and homosexual/bisexual college students. Most of the measures were from a self-report questionnaire; others were from experimenters' ratings or cognitive tests (Mental Rotation Test and Water Level Test). The questionnaire, test, and rating measures included physical characteristics (e.g., height, body type, eye color); spatial abilities; sex roles and sexual orientation; childhood gender nonconformity; and, in the OAE study, presence of homosexuality or bisexuality among relatives. Correlations with sexual orientation were most often consistent with the hypothesis that male homosexuals were undermasculinized and female homosexuals overmasculinized. Some correlations of the questionnaire, test, and rating measures with auditory measures were observed, but most of these were reduced or eliminated by statistically controlling for sex. In supplementary analyses, pigmentation measures appeared to be unrelated to OAEs, and data relevant to several hypotheses in the sexual orientation literature were briefly examined, including childhood gender nonconformity, X-linkage, handedness, and the tendency of homosexuality to run in families.

Adult↗
PubMed2005

Common deletions and SNPs are in linkage disequilibrium in the human genome.

Humans show great variation in phenotypic traits such as height, eye color and susceptibility to disease. Genomic DNA sequence differences among individuals are responsible for the inherited components of these complex traits. Reports suggest that intermediate and large-scale DNA copy number and structural variations are prevalent enough to be an important source of genetic variation between individuals. Because association studies to identify genomic loci associated with particular phenotypic traits have focused primarily on genotyping SNPs, it is important to determine whether common structural polymorphisms are in linkage disequilibrium with common SNPs, and thus can be assessed indirectly in SNP-based studies. Here we examine 100 deletion polymorphisms ranging from 70 bp to 7 kb. We show that common deletions and SNPs ascertained with similar criteria have essentially the same distribution of linkage disequilibrium with surrounding SNPs, indicating that these polymorphisms may share evolutionary history and that most deletion polymorphisms are effectively assayed by proxy in SNP-based association studies.

Gene Frequency↗
PubMed2006

South Australian adolescent ophthalmic sun protective behaviours.

AIMS: To study student's knowledge of the effects of sunlight on the eyes, as well as their sun protective behaviours. METHODS: In total, 640 [corrected] students aged 13-18 years were surveyed in South Australia, during August-September 2004, using a standardized previously used survey. Scores were calculated regarding knowledge about ultraviolet light, sunlight effects on eyes, as well as eye and body protection. Risk factor scores were produced for each student. The data were analysed by the analysis of variance (ANOVA), as well as the Cochran-Mantel-Haenszel methods. Results were compared to the same survey conducted in 1995 in Queensland Australia. RESULTS: This group demonstrated a moderate level of knowledge, similar to the 1995 survey. Students in the older age groups demonstrated significantly higher knowledge. The majority of students (74%) owned a pair of sunglasses; however, 44.5% almost never wore their glasses. The reported frequency of wearing sunglasses was significantly related to advertising, believing sunglasses protect the eyes, as well as personal, family, and peer attitudes towards wearing sunglasses. CONCLUSION: The results of our survey suggest no significant change in knowledge and behaviours of students, compared to the 1995 survey. We feel it is imperative that adolescents be made more aware of the damaging effects of sunlight and the benefits of eye protection. Health promotion campaigns should target the youth and consider that as a group, they are significantly influenced by the media, peers, and family attitudes.

Adolescent↗
PubMed1997

The white gene of the tephritid fruit fly Bactrocera tryoni is characterized by a long untranslated 5' leader and a 12kb first intron.

A 300 bp fragment from exon 6 of the white gene of Bactrocera tryoni was used to screen a B. tryoni genomic library. One positive (approximately 14 kb) insert contained exons 2-6 of white by nucleotide and amino acid sequence similarity to the white genes of D. melanogaster (O'Hare et al., 1984; Pepling & Mount, 1990). Lucilia cuprina (Garcia et al., 1996). Ceratitis capitata (Zwiebel et al., 1995) and Anopheles gambiae (Besansky et al., 1995). A white 5' cDNA fragment containing exons 1, 2 and part of exon 3 was amplified, cloned and sequenced. An inverse PCR fragment of genomic DNA was generated, containing the exon 1 coding region plus approximately 2.1 kb of upstream sequence, encompassing the putative promoter of the gene. Exon 1 was found to be 728 bp long, encoding the first twenty-five amino acids. The full length of intron 1 was shown to be 12 kb (amplified using long PCR protocols), up to 3 times the length of the longest white intron 1 isolated to date.

ATP-Binding Cassette Transporters↗
PubMed2003

The scarlet eye colour gene of the tephritid fruit fly: Bactrocera tryoni and the nature of two eye colour mutations.

A homologue of the Drosophila melanogaster eye-colour gene, scarlet (st), has been isolated from the genome of the tephritid fruit fly, Bactrocera tryoni. The comparison of the B. tryoni and D. melanogaster scarlet gene shows 71.2% and 79.3% sequence identity at the DNA and the derived amino acid level, respectively. Two allelic eye-colour mutations of B. tryoni, orange-eyes and lemon-eyes, have been recovered and found to be colocalized with the st gene. The st gene sequence in the two mutant strains has been examined for DNA sequence changes and expression levels.

Alleles↗
PubMed2001

Risk factors for cutaneous melanoma: a case-control study in Argentina.

BACKGROUND: Although cutaneous malignant melanoma (CMM) is still a relatively rare neoplasm, incidence rates are increasing in many white populations worldwide. A case-control study was performed in Argentina to estimate the risk factors for CMM. METHODS: The study group comprised 101 hospital cases with histologically verified melanoma and 246 controls, frequency matched by age, sex, and hospital. Individuals were interviewed about demographic and constitutional factors and sun exposure history. RESULTS: The following risk factors were significant in the logistic analysis: nevi on arms (odds ratio (OR) = 6.3 for 20 or more), skin phototype (OR = 4.1 for type l or ll), holidays spent at the beach (OR = 4 for more than 6 weeks lifelong), fair skin tone (OR = 3.4), light eye color (OR = 2.8), sunburn before the age of 15 years (OR = 2.4), and participation in outdoor sports (OR = 3.2 for more than 5790 h accumulated in a lifetime). Occupational sun exposure was not related to CMM risk. Educational level, hair color, and the presence of freckles were not independent risk factors for CMM. CONCLUSIONS: The risk factors found for the studied population, with nearly 90% of the individuals born in Argentina and with nearly 50% with four southern European grandparents, were consistent with those described for other countries. This investigation has resulted in findings that may be of use in preparing actions to prevent CMM in Argentina; these should be directed at those individuals who present the above mentioned risk factors. These actions should include instructions to avoid excessive sun exposure, with the aim to reduce melanoma incidence.

Adult↗
PubMedDate not supplied

Pseudoporphyria and nonsteroidal antiinflammatory agents in children with juvenile idiopathic arthritis.

Pseudoporphyria is characterized by erythema, blistering, and scarring on sun-exposed skin. Nonsteroidal antiinflammatory drugs (NSAIDs) are implicated in the etiology of this condition. In a 1-year prospective study of children attending the pediatric rheumatology clinic in Edinburgh we found a prevalence of pseudoporphyria of 10.9% in children taking NSAIDs for juvenile idiopathic arthritis. Naproxen was the most commonly implicated NSAID, independent of dosage. Blue/gray eye color was an independent risk factor for the development of pseudoporphyria. We would advise caution in prescribing naproxen in these children to prevent disfiguring facial scarring.

Adolescent↗
PubMed1988

[Heterochromia complicata Fuchs].

We are indebted to I. Loewenfeld and her ophthalmologist colleague H. S. Thompson for having called for an explanation of the clinical picture of Fuchs's heterochromic cyclitis in their "Critical Review." In the present author's view, the reason why so many different opinions are held concerning the clinical picture and the etiology is that only a few authors (Franceschetti, François, Georgiades, Hollwich, Huber, Kimura, Hogan and Thygeson, Perkins, Sugar and others) have been able to follow up collectives of their own, of up to 50 patients and more, for many years. None of the investigators deny the presence of typical precipitates, observed both under direct light and retroillumination; typical because they are only found in Fuchs's heterochromia and its variation Posner-Schlossman syndrome. The course is inflammation-free, since, in contrast to all other forms of diseases of the anterior uvea, neither external signs of inflammation nor posterior synechiae occur. Etiologically, according to the behavior of the pupil (François 1949, 1954), there is sympathicoparalysis, while according to Amsler and Huber as well as Verrey, Franceschetti and Herrmann there is a corresponding pathologically increased fluorescein permeability of the vessels in the anterior segment and an extreme tendency to bleeding, as shown by the filiform bleeding when the anterior chamber is opened. The sympathicoparalysis also explains the inflammation-free vascular fragility, with escape of cell elements, primarily protein (albumins) and lymphocytes (Verrey, Matteucci, Franceschetti and Hermann, and François) into the aqueous and vitreous. Therefore, the syndrome should no longer be termed "heterochromic cyclitis" but rather "heterochromia complicata" as proposed by E. Fuchs. In view of the somatic features, amounting to a status dysraphicus, the condition is probably connected with a congenital developmental anomaly of the sympathetic nerve (François); these features have been described by Franceschetti, Hollwich, Passow, Perkins, Sugar, Huber and many others. There may also be immunologic factors (Loewenfeld and Thompson); however, research into these is still only at an early stage.

Adult↗
PubMed1983

Transcription of the white locus in Drosophila melanogaster.

Genetic studies of the white locus have shown that it has a distal region where structural mutations occur and a proximal region where regulatory mutations occur. To better understand the molecular basis of this genetic organization we have analyzed white locus transcription. A 2.7-kilobase transcript comprising 0.0005% of poly(A)-RNA was detected in RNA prepared from pupae or adults. The structure of this transcript helps clarify some unusual genetic properties of the locus. There is a small 5' exon separated from the majority of the sequences found in the mature RNA by an intron of approximately 2.8 kilobases. This 5' exon is from the proximal region of the locus, whereas the main body of the RNA maps to the distal region. The mutationally silent region between the proximal and distal regions corresponds to the large intron. We have identified the family and determined the exact location of a number of transposable element insertions within the locus. These results show that transposable element insertions within introns can be without phenotypic effect. We have also investigated the effect on the white transcript of the zeste mutation, which represses white locus expression as judged by eye color phenotype. The RNA was unchanged in size or abundance in poly(A)-RNA from adult flies. This demonstrates that the zeste-white interaction does not occur by simply repressing transcription of the white locus in all tissues.

Journal Article↗
PubMed1984

Interspecific DNA transformation in Drosophila.

A DNA fragment that includes the wild-type rosy (ry+) gene of Drosophila melanogaster has been introduced by microinjection into the germ line of the reproductively isolated species Drosophila simulans and incorporated into the D. simulans genome. Transformation was mediated by the transposable element P, which occurs in the genome of most natural populations of D. melanogaster but not in D. simulans. Rubin and Spradling [Rubin, G.M. & Spradling, A.C. (1982) Science 218, 348-353] have previously shown that the ry+ DNA fragment, which is flanked by recognition sequences of P element, can transform the germ line of D. melanogaster. Successful transformation in D. simulans indicates that the P element continues to function as a transposable element in the D. simulans genome. Moreover, the ry+ gene of D. melanogaster functions in the genome of D. simulans to produce normal eye color, despite the estimated 1 to 5 million yr of reproductive isolation since the evolutionary divergence of these species. Interspecific DNA transformation provides a useful method for the study of genetic differences affecting gene expression among related but reproductively isolated species.

Animals↗
PubMed1987

Peroxisomes in wild-type and rosy mutant Drosophila melanogaster.

This study shows that peroxisomes are abundant in the Malpighian tubule and gut of wild-type Oregon R Drosophila melanogaster and that the peroxisomal population of the rosy-506 eye-color mutant differs from that of the wild type. Catalase activity in wild-type flies is demonstrable in bodies of appearance and centrifugal behavior comparable to the peroxisomes of vertebrate tissues. Xanthine oxidase (xanthine:oxygen oxidoreductase, EC 1.1.3.22) activity of the Malpighian tubule of wild-type flies is demonstrable cytochemically in bodies like those containing catalase. The rosy-506 mutant flies, with a deletion in the structural gene for xanthine dehydrogenase (xanthine:NAD+ oxidoreductase, EC 1.1.1.204), lack cytochemically demonstrable peroxisomal xanthine oxidase activity. In addition, peroxisomes in the rosy-506 mutants show less intense cytochemical staining for catalase than those in wild-type flies, and biochemical assays indicate that catalase in the rosy mutant is much more accessible to substrate in the absence of detergent than in the wild type. Thus, the rosy-506 mutation appears to affect peroxisomes and may mimic aspects of the defects of peroxisomes in some human metabolic disorders.

Animals↗
PubMed1992

Urate-null rosy mutants of Drosophila melanogaster are hypersensitive to oxygen stress.

It has been proposed that uric acid is an important scavenger of deleterious oxygen radicals in biological systems [Ames, B. N., Cathcart, R., Schwiers, E. & Hochstein, P. (1981) Proc. Natl. Acad. Sci. USA 78, 6858-6852]. We report here an in vivo investigation of the oxygen defense role of uric acid through an analysis of mutants of the rosy (ry) gene of Drosophila melanogaster. The ry gene is the structural gene for the molybdoenzyme, xanthine dehydrogenase; xanthine dehydrogenase-null ry mutants are therefore unable to synthesize urate. The rationale of our approach was to measure the response of urate-null ry mutants to extraordinary oxygen stress as imposed by exposure to radical-generating agents and as conferred by a genetic defect in superoxide dismutase, an established oxygen defense function. We show that urate-null mutants of the ry locus are hypersensitive to paraquat, ionizing radiation, and hyperoxia. Furthermore, compound mutants doubly deficient for uric acid and Cu/Zn-containing superoxide dismutase are synthetic lethals, which are unable to complete metamorphosis under normal growth conditions. These experiments demonstrate unambiguously the importance of urate in oxygen defense in vivo and support our earlier proposal that the molybdoenzyme genetic system plays a critical role in oxygen defense in Drosophila. They also form the basis for our proposal that metamorphosis in Drosophila imposes a crisis of oxygen stress on the developing imago against which uric acid plays an important organ-specific defense. Finally, the results provide a basis for understanding the syndrome of phenotypes, including the hallmark dull brown eye color, which characterizes mutants of this classic genetic system of Drosophila.

Animals↗
PubMed1997

Mutations in the mariner transposase: the D,D(35)E consensus sequence is nonfunctional.

Genetic analysis of eukaryote transposases and comparison with their prokaryote counterparts have been greatly hindered by difficulty in isolating mutations. We describe a simple eye-color screen that facilitates isolation and analysis of mutations in the mariner transposase in Drosophila melanogaster. Use of ethyl methanesulfonate and site-directed mutagenesis has identified 18 residues that are critical for in vivo excision of a target mariner element. When the mutations were examined in heterozygous mutant/nonmutant genotypes, more than half of the mutant transposase proteins were found to reduce the activity of the wild-type transposase, as assayed by the frequency of germline excision of a target element. Remarkably, transposase function is obliterated when the D,D(34)D acidic, ion-binding domain is replaced with the consensus sequence D,D(34)E found in the nematode Tc1 transposase and in many other transposases in the superfamily. A number of mutations strongly complement wild-type transposase in a dominant-negative manner, suggestive of subunit interactions in the excision reaction; these mutations are located in a small region that includes part of the D,D(34)D motif. Transposase function also is eliminated by a mutation in the inferred initiation codon and by a mutation in a putative nuclear localization signal.

Animals↗
PubMed2000

The in vivo genetic activity profile of the monofunctional nitrogen mustard 2-chloroethylamine differs drastically from its bifunctional counterpart mechlorethamine.

The property of forming crosslinks within DNA is seen as the major cause of the high carcinogenic, genotoxic and anti-neoplastic potency of bifunctional nitrogen mustards. To further investigate the importance for genotoxicity of a second reactive group in a molecule, the genetic activity profiles of the bifunctional nitrogen mustard mechlorethamine (MEC) and its monofunctional counterpart 2-chloroethylamine (CEA) were compared, using several in vivo end points in Drosophila. When post-meiotic male germ cells were alkylated by CEA and then transferred to nucleotide excision repair (NER)-proficient oocytes, no more than up to 4-fold increased forward mutation frequencies were induced. With oocytes deficient for XPG (DmXPG), frequencies were enhanced up to 50 times. For MEC mutation frequencies increased up to 40 times the background, whereas only a low hypermutability was observed when DmXPG were used instead of wild-type females, indicating that nitrogen mustard-induced monoadducts, in contrast to crosslinks, are efficiently repaired by the NER system. Specific locus mutations generated in the vermilion gene by CEA under NER(-) conditions were almost exclusively base pair substitutions (93%). The high proportion of mutations at guanine positions indicates a strong contribution of N7-alkylguanine to the mutational spectrum. MEC induced 64% deletions and other DNA rearrangements in crosses of males with DmXPG females. The small portion of point mutations (36%) was further reduced to approximately 20% with NER(+) females. Inactivation of NER had no potentiating effect on clastogenic events (chromosome loss) induced by CEA, which is in sharp contrast to the strongly enhanced forward mutation frequencies measured with DmXPG females. The weak genotoxic effectiveness of CEA under NER(+) conditions is clearly due to efficient error-free repair of monoalkyl adducts. These results further support the concept that bifunctional nitrogen mustards exert their mutagenic activity through formation of DNA crosslinks and that DNA monoadducts make only a minor contribution to their genotoxic activity.

Animals↗
PubMed1986

Heterogeneity of lethals in a "simple" lethal complementation group.

Of 24 ethyl methanesulphonate-induced, recessive-lethal mutations in the region 9E1-9F13 of the X chromosome of Drosophila melanogaster, eight fall into a typically homogeneous lethal complementation group associated with the raspberry (ras) locus. Mutations in this group have previously been shown to be pleiotropic, affecting not only ras but also two other genetic entities, gua 1 and pur 1, which yield auxotrophic mutations.--The eight new mutations have been characterized phenotypically in double heterozygotes with gua 1, pur 1 and ras mutations. Despite their homogeneity in lethal complementation tests, the mutations prove quite diverse. For example, two mutations have little or no effect on eye color in double heterozygotes with ras2. The differences between the lethals are allele-specific and cannot be explained as a trivial outcome of a hypomorphic series.--Taken alone, the lethal complementation studies mask the complexity of the locus and the diversity of its recessive lethal alleles. By extension, we argue that the general use of lethal saturation studies provides an unduly simplified image of genetic organization. We suggest that the reason why recessive lethal mutations rarely present complex complementation patterns is that complex loci tend to produce mutations that affect several subfunctions.

Animals↗