Thesis (Ph. D.)--University of Wisconsin--Madison, 1940. / Typescript. Includes abstract and vita. eContent provider-neutral record in process. Description based on print version record. Includes bibliographical references (leaves 71-78).

Thesis (Ph. D.)--University of Wisconsin--Madison, 1964. / Typescript. Vita. eContent provider-neutral record in process. Description based on print version record. Includes bibliographical references.

Thesis (Ph.D.)--University of Puerto Rico, Mayaguez Campus, 2005. / Includes bibliographical references.

This document only includes an excerpt of the corresponding thesis or dissertation. To request a digital scan of the full text, please contact the Ruth Lilly Medical Library's Interlibrary Loan Department (rlmlill@iu.edu).

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LD2668 .T4 1947 P38 / Master of Science

Variation in pigmentation of hair and skin is one of the most striking forms of human diversity. Human pigmentation and sun sensitivity is a complex trait. The melanocortin 1 receptor gene (MC1R) (OMIM 15555) has been shown to be a key determinant of hair and skin colour. Recently a number of other genes have been implicated in human pigmentation. This thesis presents the relationship between human pigmentary phenotypes and genetic variation at MC1R and 34 other candidate loci from 159 individuals. The relationship between experimentally induced cutaneous erythemal and facultative pigmentary response to UVB radiation and MC1R and other pigmentation genotypes was investigated in a subset of 98 individuals. Some of this work involved the development of novel methods of assaying phenotype. I present a detailed description of human pigmentation and facultative pigmentation with respect to a number of key variables (e.g. sex, site, freckling, skin type) and seek to explain the variation in pigmentation in relation to these factors. The effect of MC1R on hair colour is large, but MC1R explains a smaller amount of the variation for skin colour. I found that a number of loci including MC1R, oculocutaneous albinism type 2 OCA2 (OMIM 611409), KIT oncogene ligand KITLG (OMIM 184745) and the Hermansky-Pudlak syndrome 3 HPS3 (OMIM 606118) are determinants of pigmentary phenotype. Some of these findings are in keeping with previous work and some are novel. I present data showing novel SNPs in genes Hermansky-Pudlak syndrome 3 (HPS3) and KIT ligand (KITLG) to be associated with human skin and hair colour variation. Association of HPS3 to eye colour was also found and has to be confirmed in another population. The possible putative mechanisms for the novel association finding in HPS3 are discussed. I am in the process of confirming these positive significant findings in collaboration with another laboratory in Denmark. Further experiments are proposed to confirm other associations and phenotypes.

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No description available.

Ultraviolet radiation (UVR) has been associated with various health outcomes, including skin cancers, vitamin D insufficiency, and multiple sclerosis. Measurement of UVR has been difficult, traditionally relying on subject recall. We investigated trends in satellite-derived UVB from 1978 to 2014 within the continental United States (US) to inform UVR exposure assessment and determine the potential magnitude of misclassification bias created by ignoring these trends. Monthly UVB data remotely sensed from various NASA satellites were used to investigate changes over time in the United States using linear regression with a harmonic function. Linear regression models for local geographic areas were used to make inferences across the entire study area using a global field significance test. Temporal trends were investigated across all years and separately for each satellite type due to documented differences in UVB estimation. UVB increased from 1978 to 2014 in 48% of local tests. The largest UVB increase was found in Western Nevada (0.145 kJ/m(2) per five-year increment), a total 30-year increase of 0.87 kJ/m(2). This largest change only represented 17% of total ambient exposure for an average January and 2% of an average July in Western Nevada. The observed trends represent cumulative UVB changes of less than a month, which are not relevant when attempting to estimate human exposure. The observation of small trends should be interpreted with caution due to measurement of satellite parameter inputs (ozone and climatological factors) that may impact derived satellite UVR nearly 20% compared to ground level sources. If the observed trends hold, satellite-derived UVB data may reasonably estimate ambient UVB exposures even for outcomes with long latency phases that predate the satellite record.