A visão de cores é possível devido aos diferentes tipos de fotorreceptores e ao processamento pós-receptoral da informação gerada após ativação destas células pela luz. Análises genéticas, funcionais e morfológicas podem ser utilizadas no estudo da visão de cores. Neste trabalho, foram estudadas a genética dos pigmentos visuais de macacos do gênero Cebus e a genética e a psicofísica da visão de cores de humanos com e sem discromatopsias hereditárias. O sequenciamento dos genes que expressam as opsinas presentes nos cones L e M foi realizado em dois grupos de macacos-prego mantidos na UFRJ e na UFPA. Treze animais do Instituto de Biofísica Carlos Chagas Filho da UFRJ e vinte animais da Escola de Primatas da UFPA tiveram o sangue coletado, o material genético extraído e os éxons 3 e 5 dos genes que codificam as opsinas L/M sequenciados após amplificação por PCR. Os aminoácidos localizados nas posições 180, 277 e 285 das opsinas foram identificados e com este resultado foi determinada a curva de absorção espectral das opsinas. O resultado foi a caracterização de seis machos dicromatas, quatro fêmeas tricromatas e três fêmeas dicromatas entre os animais da UFRJ. Entre os animais da UFPA, dezesseis machos eram dicromatas, uma fêmea era tricromata e três fêmeas eram dicromatas. Entre os alelos encontrados nesses grupos, a combinação SFT, cujo pico de absorção espectral da opsina é de 546-553, foi descrita pela primeira vez no gênero Cebus. A variedade de alelos encontrada entre os dois grupos é devida às diferentes condições ambientais nos locais de origem dos animais. No estudo com humanos, a visão de cores de 19 sujeitos controles (5 homens e 14 mulheres) e 16 sujeitos daltônicos (14 homens e 1 mulher), moradores no estado de São Paulo (SP) foi avaliada através de quatro testes psicofísicos e análises genéticas dos pigmentos visuais. Estes resultados foram comparados com os dados descritos por Gonçalves (2006) em sujeitos daltônicos do estado do Pará (PA). Na correlação entre o fenótipo e o genótipo dos sujeitos estudados neste trabalho, foi observada uma correspondência de 100% entre a classificação da discromatopsia obtida com as análises genéticas e os testes psicofísicos / Color vision is possible due to different types of photoreceptors and to the post receptoral processing of the information generated after cell activation by the light. Genetic, functional and morphological analysis can be used as tools in the color vision studies. In the present work the genetic of the visual pigments from Cebus sp and the genetic and the psychophysics of normal and defective human color vision were evaluated. The sequencing of the L and M genes of 33 capuchin monkeys was performed. Blood samples were collected from 13 monkeys from Instituto de Biofísica Carlos Chagas Filho (UFRJ) and 20 monkeys from Escola de Primatas (UFPA), the DNA was extracted and exons 3 and 5 from L/M genes were sequenced after PCR amplification. For each animal the 180, 277 and 285 aminoacids were identified and the spectral absorbance curve was estimated based on their sequence. In the UFRJ group, six males and three females were identified as dichromats and four females were identified as thrichromats. In the UFPA group sixteen males and three females were dichromats and one female was thrichromat. The SFT aminoacid combination was described for the first time in the Cebus genera. The allelic diversity described in these animals is probably due to the distinct environmental conditions from the place of birth of the animals. In the human study 19 control subjects (5 men and 14 women) and sixteen daltonic subjects (14 men and 1 woman), all from São Paulo city, had the colour vision evaluated with 4 colour vision tests and with the visual pigment genetics. The results were compared to the data described by Gonçalves (2006) in daltonic subjects from Pará state. The correlation between phenotype and genotype of the subjects from SP had a 100% of correspondence in the genetic and psychophysical classifications of dischromatopsia

A visão de cores é possível devido aos diferentes tipos de fotorreceptores e ao processamento pós-receptoral da informação gerada após ativação destas células pela luz. Análises genéticas, funcionais e morfológicas podem ser utilizadas no estudo da visão de cores. Neste trabalho, foram estudadas a genética dos pigmentos visuais de macacos do gênero Cebus e a genética e a psicofísica da visão de cores de humanos com e sem discromatopsias hereditárias. O sequenciamento dos genes que expressam as opsinas presentes nos cones L e M foi realizado em dois grupos de macacos-prego mantidos na UFRJ e na UFPA. Treze animais do Instituto de Biofísica Carlos Chagas Filho da UFRJ e vinte animais da Escola de Primatas da UFPA tiveram o sangue coletado, o material genético extraído e os éxons 3 e 5 dos genes que codificam as opsinas L/M sequenciados após amplificação por PCR. Os aminoácidos localizados nas posições 180, 277 e 285 das opsinas foram identificados e com este resultado foi determinada a curva de absorção espectral das opsinas. O resultado foi a caracterização de seis machos dicromatas, quatro fêmeas tricromatas e três fêmeas dicromatas entre os animais da UFRJ. Entre os animais da UFPA, dezesseis machos eram dicromatas, uma fêmea era tricromata e três fêmeas eram dicromatas. Entre os alelos encontrados nesses grupos, a combinação SFT, cujo pico de absorção espectral da opsina é de 546-553, foi descrita pela primeira vez no gênero Cebus. A variedade de alelos encontrada entre os dois grupos é devida às diferentes condições ambientais nos locais de origem dos animais. No estudo com humanos, a visão de cores de 19 sujeitos controles (5 homens e 14 mulheres) e 16 sujeitos daltônicos (14 homens e 1 mulher), moradores no estado de São Paulo (SP) foi avaliada através de quatro testes psicofísicos e análises genéticas dos pigmentos visuais. Estes resultados foram comparados com os dados descritos por Gonçalves (2006) em sujeitos daltônicos do estado do Pará (PA). Na correlação entre o fenótipo e o genótipo dos sujeitos estudados neste trabalho, foi observada uma correspondência de 100% entre a classificação da discromatopsia obtida com as análises genéticas e os testes psicofísicos / Color vision is possible due to different types of photoreceptors and to the post receptoral processing of the information generated after cell activation by the light. Genetic, functional and morphological analysis can be used as tools in the color vision studies. In the present work the genetic of the visual pigments from Cebus sp and the genetic and the psychophysics of normal and defective human color vision were evaluated. The sequencing of the L and M genes of 33 capuchin monkeys was performed. Blood samples were collected from 13 monkeys from Instituto de Biofísica Carlos Chagas Filho (UFRJ) and 20 monkeys from Escola de Primatas (UFPA), the DNA was extracted and exons 3 and 5 from L/M genes were sequenced after PCR amplification. For each animal the 180, 277 and 285 aminoacids were identified and the spectral absorbance curve was estimated based on their sequence. In the UFRJ group, six males and three females were identified as dichromats and four females were identified as thrichromats. In the UFPA group sixteen males and three females were dichromats and one female was thrichromat. The SFT aminoacid combination was described for the first time in the Cebus genera. The allelic diversity described in these animals is probably due to the distinct environmental conditions from the place of birth of the animals. In the human study 19 control subjects (5 men and 14 women) and sixteen daltonic subjects (14 men and 1 woman), all from São Paulo city, had the colour vision evaluated with 4 colour vision tests and with the visual pigment genetics. The results were compared to the data described by Gonçalves (2006) in daltonic subjects from Pará state. The correlation between phenotype and genotype of the subjects from SP had a 100% of correspondence in the genetic and psychophysical classifications of dischromatopsia

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Visual pigments are light sensitive receptors in the eye that form the basis of sensory visual transduction. This thesis presents three studies that explore visual pigment proteins in vertebrates using a number of computational and experimental methods in an evolutionary framework. The objective is not only to identify, but also to experimentally investigate the functional consequences of genetic variation in vertebrate visual pigments. The focus is on great bowerbirds (Chlamydera nuchalis), which are a model system in visual ecology due to their spectacular behaviour of building and decorating courtship bowers. There are 4 chapters: Chapter 1 introduces background information on visual pigments and vision in birds. Among visual pigment types, the short-wavelength-sensitive (SWS1) pigments have garnered particular interest due to the broad spectral range among vertebrates and the importance of UV signals in communication. Chapter 2 investigates the evolutionary history of SWS1 in vertebrates with a view toward its utility as a phylogenetic marker. Chapter 3 investigates SWS1 evolution and short-wavelength vision in birds, with particular focus on C. nuchalis and its SWS1. The evolution of spectral tuning mechanisms mediating UV/violet vision in passerines and parrots is elucidated in this chapter using site-directed mutagenesis, protein expression, and phylogenetic recreation of ancestral opsins. While cone opsins mediate colour vision in bright light, the rhodopsin visual pigment contained in rod photoreceptors is critical for dim light vision. Detailed characterization of rhodopsin function has only been conducted on a few model systems. Chapter 4 examines C. nuchalis RH1 using a number of functional assays in addition to absorbance spectra, including hydroxylamine sensitivity and the rate of retinal release. This chapter includes an investigation into the role of amino acid mutations typical of dim-light adapted vertebrates, D83N and A292S, in regulating functional properties of bovine and avian RH1s using site-directed mutagenesis. Together these chapters describe naturally occurring mutations in visual pigments and explore the way they can influence visual perception. These represent one of the few investigations of visual pigments from a species that is not a model lab organism and form a significant contribution to the field of visual pigment biochemistry and evolution.

Visual pigments are light sensitive receptors in the eye that form the basis of sensory visual transduction. This thesis presents three studies that explore visual pigment proteins in vertebrates using a number of computational and experimental methods in an evolutionary framework. The objective is not only to identify, but also to experimentally investigate the functional consequences of genetic variation in vertebrate visual pigments. The focus is on great bowerbirds (Chlamydera nuchalis), which are a model system in visual ecology due to their spectacular behaviour of building and decorating courtship bowers. There are 4 chapters: Chapter 1 introduces background information on visual pigments and vision in birds. Among visual pigment types, the short-wavelength-sensitive (SWS1) pigments have garnered particular interest due to the broad spectral range among vertebrates and the importance of UV signals in communication. Chapter 2 investigates the evolutionary history of SWS1 in vertebrates with a view toward its utility as a phylogenetic marker. Chapter 3 investigates SWS1 evolution and short-wavelength vision in birds, with particular focus on C. nuchalis and its SWS1. The evolution of spectral tuning mechanisms mediating UV/violet vision in passerines and parrots is elucidated in this chapter using site-directed mutagenesis, protein expression, and phylogenetic recreation of ancestral opsins. While cone opsins mediate colour vision in bright light, the rhodopsin visual pigment contained in rod photoreceptors is critical for dim light vision. Detailed characterization of rhodopsin function has only been conducted on a few model systems. Chapter 4 examines C. nuchalis RH1 using a number of functional assays in addition to absorbance spectra, including hydroxylamine sensitivity and the rate of retinal release. This chapter includes an investigation into the role of amino acid mutations typical of dim-light adapted vertebrates, D83N and A292S, in regulating functional properties of bovine and avian RH1s using site-directed mutagenesis. Together these chapters describe naturally occurring mutations in visual pigments and explore the way they can influence visual perception. These represent one of the few investigations of visual pigments from a species that is not a model lab organism and form a significant contribution to the field of visual pigment biochemistry and evolution.