ArticleBMC genetics2017
A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella).
Article in BMC genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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Who cites it
7 citing papers in PubMed, 18 citations in OpenAlex.
- A Recessive oca2 Mutation Underlies Albinism in Xiphophorus Fish.Pigment cell & melanoma research · 2026Article
- The genetic basis and potential molecular mechanism of yellow-albino northern snakehead (Open biology · 2023Article
- A community-science approach identifies genetic variants associated with three color morphs in ball pythons (Python regius).PloS one · 2022Article
- Cytological, genetic and transcriptomic characterization of a cucumber albino mutant.Frontiers in plant science · 2022Article
- Comparative transcriptomics of albino and warningly-coloured caterpillars.Ecology and evolution · 2021Article
- Pigmentation formation and expression analysis of tyrosinase in Siniperca chuatsi.Fish physiology and biochemistry · 2020Article
- Behavioral and genetic color vision evaluation of an albino male capuchin monkey (Sapajus apella).Journal of comparative physiology. A, Neuroethology, sensory, neural, and behavioral physiology · 2019Article
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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