BackgroundOculocutaneous Albinism (OCA) is an autosomal recessive inherited condition that affects the pigmentation of eyes, hair and skin. The OCA phenotype may be caused by mutations in the tyrosinase gene (TYR), which expresses the tyrosinase enzyme and has an important role in the synthesis of melanin pigment. The aim of this study was to identify the genetic mutation responsible for the albinism in a captive capuchin monkey, and to describe the TYR gene of normal phenotype individuals. In addition, we identified the subject’s species.ResultsA homozygous nonsense mutation was identified in exon 1 of the TYR gene, with the substitution of a cytosine for a thymine nucleotide (C64T) at codon 22, leading to a premature stop codon (R22X) in the albino robust capuchin monkey. The albino and five non-albino robust capuchin monkeys were identified as Sapajus apella, based on phylogenetic analyses, pelage pattern and geographic provenance. One individual was identified as S. macrocephalus.ConclusionWe conclude that the point mutation C64T in the TYR gene is responsible for the OCA1 albino phenotype in the capuchin monkey, classified as Sapajus apella.Electronic supplementary materialThe online version of this article (doi:10.1186/s12863-017-0504-8) contains supplementary material, which is available to authorized users.

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We investigated the impact of visual impairment on balance control. We measured the center of pressure (COP) between the two feet and plantar surface pressures on each foot in 18 normal-sighted participants and compared their data with measures from 18 legally blind participants, either acquired or congenital. Pressures were measured in open- and closed-eye conditions using a baropodometric resistive plate. In the eyes-open condition, there were no differences between the sighted and legally blind groups in COP displacement. However, participants with visual loss had significantly increased pressures in two metatarsal regions (M1 and M2 zones) of the plantar surface in both viewing conditions (p < 0.05). The differences in pressure measures between the normally sighted and legally blind groups could be attributed mainly to the subgroup of subjects with acquired impairment. Our findings suggest that subjects with visual impairment present increased metatarsal pressures (i.e. forefoot), not yet associated to anterior displacement of COP or impaired balance control.

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