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.2013 Jul;151(3):398-407.
doi: 10.1002/ajpa.22280. Epub 2013 May 2.

The convergent evolution of blue iris pigmentation in primates took distinct molecular paths

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Free PMC article

The convergent evolution of blue iris pigmentation in primates took distinct molecular paths

Wynn K Meyer et al. Am J Phys Anthropol.2013 Jul.
Free PMC article

Abstract

How many distinct molecular paths lead to the same phenotype? One approach to this question has been to examine the genetic basis of convergent traits, which likely evolved repeatedly under a shared selective pressure. We investigated the convergent phenotype of blue iris pigmentation, which has arisen independently in four primate lineages: humans, blue-eyed black lemurs, Japanese macaques, and spider monkeys. Characterizing the phenotype across these species, we found that the variation within the blue-eyed subsets of each species occupies strongly overlapping regions of CIE L*a*b* color space. Yet whereas Japanese macaques and humans display continuous variation, the phenotypes of blue-eyed black lemurs and their sister species (whose irises are brown) occupy more clustered subspaces. Variation in an enhancer of OCA2 is primarily responsible for the phenotypic difference between humans with blue and brown irises. In the orthologous region, we found no variant that distinguishes the two lemur species or associates with quantitative phenotypic variation in Japanese macaques. Given the high similarity between the blue iris phenotypes in these species and that in humans, this finding implies that evolution has used different molecular paths to reach the same end.

Copyright © 2013 Wiley Periodicals, Inc.

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Figures

Fig. 1
Fig. 1
Quantitative phenotypic variation in brown spider monkeys, blue-eyed black lemurs, black lemurs, Japanese macaques and humans; displayed using the CIE L*a*b* color system; with color representing visible color and shape representing species/population. Color of points represents the results of two people (WM and SZ) independently categorizing the irises as “blue,” “brown,” or “intermediate;” “not consistent” indicates that the two people did not agree on the category.
Fig. 2
Fig. 2
Independent plots for each species or group showing quantitative phenotypic variation in the CIE L*a*b* color system, with color representing visible color (as in Fig. 1). (A) Japanese macaques, (B) blue-eyed black lemurs and black lemurs, (C) brown spider monkeys, and (D) humans.
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