Oculocutaneous 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. A 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. We 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.

The present study evaluated the efficacy of an adapted version of the Mollon-Reffin test for the behavioral investigation of color vision in capuchin monkeys. Ten tufted capuchin monkeys (Sapajus spp., formerly referred to as Cebus apella) had their DNA analyzed and were characterized as the following: one trichromat female, seven deuteranope dichromats (six males and one female), and two protanope males, one of which was identified as an “ML protanope.” For their behavioral characterization, all of the subjects were tested at three regions of the Commission International de l'Eclairage (CIE) 1976 u′v′ diagram, with each test consisting of 20 chromatic variation vectors that were radially distributed around the chromaticity point set as the test background. The phenotypes inferred from the behavioral data were in complete agreement with those predicted from the genetic analysis, with the threshold distribution clearly differentiating between trichromats and dichromats and the estimated confusion lines characteristically converging for deuteranopes and the “classic” protanope. The discrimination pattern of the ML protanope was intermediate between protan and deutan, with confusion lines horizontally oriented and parallel to each other. The observed phenotypic differentiation confirmed the efficacy of the Mollon-Reffin test paradigm as a useful tool for evaluating color discrimination in nonhuman primates. Especially noteworthy was the demonstration of behavioral segregation between the “classic” and “ML” protanopes, suggesting identifiable behavioral consequences of even slight variations in the spectral sensitivity of M/L photopigments in dichromats.