Browsing by Subject "Albinism"

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    Alternative photography in the digital age : perfect photographs in an imperfect way
    (2013) Bilici, Serdar
    This thesis explores the possibility of an alternative future of photography from the union of digital and chemical domains of the photographic medium. The historical photographic processes known as Cyanotype, Salt print and Vandyke Brown are employed for this project in conjunction with the modern inkjet printer produced digital negatives. As being highly sensitive to the variables during the process, each alternative photographic print exhibits a visual uniqueness. In this aspect, there is conceptual correlation with the visual uniqueness of alternative photographic processes and the visual uniqueness of albinism. Emphasizing the human element in subject, vision and craft of making photographs, this project aims to produce unique photographs of a visually unique subject.
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    The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild
    (BioMed Central Ltd., 2013-05-31) Prado-Martinez, J.; Hernando-Herraez, I.; Lorente-Galdos, B.; Dabad, M.; Ramirez, O.; Baeza-Delgado, C.; Morcillo-Suarez, C.; Alkan C.; Hormozdiari, F.; Raineri, E.; Estellé, J.; Fernandez-Callejo, M.; Valles, M.; Ritscher, L.; Schöneberg, T.; Calle-Mustienes, Elisa de la; Casillas, S.; Rubio-Acero, R.; Melé, M.; Engelken, J.; Caceres, M.; Gomez-Skarmeta, L. L.; Gut, M.; Bertranpetit, J.; Gut, I. G.; Abello, T.; Eichler, E. E.; Mingarro, I.; Lalueza-Fox, C.; Navarro, A.; Marques Bonet, T.
    Background: The only known albino gorilla, named Snowflake, was a male wild born individual from Equatorial Guinea who lived at the Barcelona Zoo for almost 40 years. He was diagnosed with non-syndromic oculocutaneous albinism, i.e. white hair, light eyes, pink skin, photophobia and reduced visual acuity. Despite previous efforts to explain the genetic cause, this is still unknown. Here, we study the genetic cause of his albinism and making use of whole genome sequencing data we find a higher inbreeding coefficient compared to other gorillas. Results: We successfully identified the causal genetic variant for Snowflake’s albinism, a non-synonymous single nucleotide variant located in a transmembrane region of SLC45A2. This transporter is known to be involved in oculocutaneous albinism type 4 (OCA4) in humans. We provide experimental evidence that shows that this amino acid replacement alters the membrane spanning capability of this transmembrane region. Finally, we provide a comprehensive study of genome-wide patterns of autozygogosity revealing that Snowflake’s parents were related, being this the first report of inbreeding in a wild born Western lowland gorilla. Conclusions: In this study we demonstrate how the use of whole genome sequencing can be extended to link genotype and phenotype in non-model organisms and it can be a powerful tool in conservation genetics (e.g., inbreeding and genetic diversity) with the expected decrease in sequencing cost.