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PubMed1975

A biochemical study of the scarlet eye-color mutant of Drosophila melanogaster.

3-Hydroxykynurenine is virtually absent from st larvae but accumulates during adult development in the puparium. Over the period of adult emergence, the accumulated 3-hydroxykynurenine is excreted so that st adults contain none. Larvae of st fed on tryptophan-C-14 medium produce labeled 3-hydroxykynurenine, at a reduced rate, perhaps, compared to wild type. Xanthurenic acid levels in st pupae are similar to those in wild type. Thus the failure of st larvae to accumulate 8-hydroxykynurenine does not seem to be due either to an inability to synthesize this compound or to an excessive rate of its conversion to xanthurenic acid. Rather, it appears that the mechanism of 3-hydroxykynureneine storage during larval life is defective, so that this compound is excreted at an abnormally high rate. The inability of the pigment cells of the eyes of st to synthesize xanthommatin may result form a similar defect in their ability to take up or store 3-hydroxykynurenine.

Animals↗
PubMed1996

A threshold model analysis of deafness in Dalmatians.

To elucidate the inheritance of deafness in Dalmatian dogs, 825 dogs in 111 litters were evaluated for abnormalities in hearing through the brainstem auditory evoked response (BAER). Recorded along with their quality of hearing (normal, unilaterally deaf, or bilaterally deaf) were the sex, coat color, eye color and the presence or absence of a color patch. The analysis considered deafness an ordered categorical trait in a threshold model. The underlying, unobservable continuous variate of the threshold model was assumed to be a linear function of sex of dog, coat color (black or liver and white), color patch (presence or absence), eye color, the deafness phenotype of the parents and a random family effect. Twenty-six percent of dogs were deaf in at least one ear. Eye color, color patch, sex and the hearing status of the parents were all significant contributions to deafness. The heritability of deafness, on the continuous unobservable scale, was 0.21. This value was computed after correction for eye color, color patch, parental hearing status and sex, implying that significant genetic variation exists beyond the contribution of several single loci.

Animals↗
PubMed1985

Influence of the salmon mutant of Glossina morsitans morsitans on the susceptibility to infection with Trypanosoma congolense.

Four phenotypes of a sex-linked, maternally influenced semi-lethal eye color mutant of Glossina morsitans morsitans Westwood were fed on Trypanosoma congolense Broden infected guinea pigs. Infection rates were evaluated 25 days later by means of dissection. Procyclic as well as mature infections were significantly more common among females with salmon-colored eyes (sal/sal) than among heterozygous (+/sal, phenotypically wild-type) females. A tendency was found for more mature infections among sal/Y males than among wild-type males. Similarly, females tended to be more infected than males with both procyclic and mature infections. These results indicate that the genotype of the fly, exemplified by the allele salmon, might influence the development of T. congolense in G.m. morsitans. A possible explanation for this phenomenon is discussed.

Animals↗
PubMed2002

Risk factors associated with the development of skin cancer after liver transplantation.

Skin cancer is a well-recognized long-term complication of transplantation and immunosuppression. Although risk factors for the development of skin cancer in the general population are well defined, risk factors for the development of these lesions have not been identified clearly in the liver transplant population. We surveyed 151 liver transplant (LTx) recipients for risk factors associated with cutaneous malignancies in the general population. Variables included were: demographics, primary liver disease, severity of disease at LTx, immunosuppression history, complexion, hair color, eye color, tanning profile, number of moles, occupational history, sun exposure history, sunburn history, family history of skin cancer, and any history of removed skin lesions. All skin cancers were confirmed histologically. There were 86 documented skin cancers in 34 patients: 56 squamous cell, 23 basal cell and 7 melanomas. Median follow-up was 1490 days. In a univariate analysis, age, male gender, red hair, brown eyes, primary sclerosing cholangitis (PSC), primary biliary cirrhosis (protective), cyclosporine, number of second degree sunburns, and frequent lifetime sun exposure were associated with the development of new skin cancers. In a multivariate model, age, male gender, red hair, brown eyes, PSC, and cyclosporine remain the strongest predictors. The incidence of skin cancer after liver transplantation is underestimated. In particular, there is a higher incidence of squamous cell carcinoma compared with the general population. Recipients with identified risk factors may be candidates for prophylactic treatment and should be followed more intensively after liver transplantation.

Adult↗
PubMed2004

Familial aggregation of melanoma risks in a large population-based sample of melanoma cases.

OBJECTIVE: Melanoma has been shown in numerous studies to be associated with sun exposure, and with host phenotypic factors of genetic origin. In this study we use information from a large series of incident cases of melanoma from an international population-based study to examine the patterns of incidence of melanoma in the first-degree relatives of these cases. METHODS: A total of 2508 incident cases of melanoma provided information on basic demographic data and pigmentary characteristics, in addition to detailed information on family history of melanoma. These data were used to examine the incidence rates ratios of melanoma in the relatives of cases in relation to population rates, and also with respect to phenotypic characteristics of the probands that have been shown to be associated with melanoma: mole counts, hair color, eye color, and skin sensitivity to the sun. RESULTS: The incidence rates reflect the underlying patterns of incidence in the source populations, with generally higher rates in the Australian sample, low rates in Italy, and intermediate rates in the USA and Canada. Also, rates are higher in men than in women, except at very young ages. Phenotypic characteristics of the probands were only weakly associated with the observed rates in the relatives although there is a strong inverse association with age at diagnosis. Cumulative risk of melanoma rises to 6.9% (6.1%) at age 80 in male (female) first-degree relatives of cases, and to 10.8% (9.5%) in relatives of cases diagnosed before age 50. CONCLUSIONS: Relatives of cases diagnosed with melanoma are at considerable lifetime risk of the disease, especially if the case is diagnosed at a young age.

Adult↗
PubMed1989

Skin cancer in patients with chronic radiation dermatitis.

The cases of 76 patients with chronic radiation dermatitis resulting from low-dose ionizing radiation for benign disease were reviewed retrospectively for risk factors leading to the development of neoplasia. The patients were studied with respect to original hair color, eye color, sun reactive skin type, benign disease treated, area treated, age at treatment, and age at development of first skin cancer. Analysis of data showed 37% of patients had sun-reactive skin type I, 27% had type II, and 36% had type III. Types IV through VI were not represented. There appeared to be an overrepresentation of types I and II. Increased melanin pigmentation may therefore be either directly or indirectly protective against the development of skin cancers in patients who have received low-dose superficial ionizing radiation for benign disease. The sun-reactive skin type of patients with chronic radiation dermatitis may be used as a predictor of skin cancer risk when the total dose of ionizing radiation is not known.

Basal Cell Carcinoma↗