The Convergent Evolution of Blue Iris Pigmentation in Primates Took Distinct Molecular Paths

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 ari...

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Main Authors: Meyer, Wynn K, Zhang, Sidi, Hayakawa, Sachiko, Imai, Hiroo, Przeworski, Molly
Format: Online
Language:English
Published: Blackwell Publishing Ltd 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3746105/
id pubmed-3746105
recordtype oai_dc
spelling pubmed-37461052013-08-20 The Convergent Evolution of Blue Iris Pigmentation in Primates Took Distinct Molecular Paths Meyer, Wynn K Zhang, Sidi Hayakawa, Sachiko Imai, Hiroo Przeworski, Molly Research Articles 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. Am J Phys Anthropol 151:398–407, 2013.© 2013 Wiley Periodicals, Inc. Blackwell Publishing Ltd 2013-07 2013-05-02 /pmc/articles/PMC3746105/ /pubmed/23640739 http://dx.doi.org/10.1002/ajpa.22280 Text en Copyright © 2013 Wiley Periodicals, Inc. http://creativecommons.org/licenses/by/2.5/ Re-use of this article is permitted in accordance with the Creative Commons Deed, Attribution 2.5, which does not permit commercial exploitation.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Meyer, Wynn K
Zhang, Sidi
Hayakawa, Sachiko
Imai, Hiroo
Przeworski, Molly
spellingShingle Meyer, Wynn K
Zhang, Sidi
Hayakawa, Sachiko
Imai, Hiroo
Przeworski, Molly
The Convergent Evolution of Blue Iris Pigmentation in Primates Took Distinct Molecular Paths
author_facet Meyer, Wynn K
Zhang, Sidi
Hayakawa, Sachiko
Imai, Hiroo
Przeworski, Molly
author_sort Meyer, Wynn K
title The Convergent Evolution of Blue Iris Pigmentation in Primates Took Distinct Molecular Paths
title_short The Convergent Evolution of Blue Iris Pigmentation in Primates Took Distinct Molecular Paths
title_full The Convergent Evolution of Blue Iris Pigmentation in Primates Took Distinct Molecular Paths
title_fullStr The Convergent Evolution of Blue Iris Pigmentation in Primates Took Distinct Molecular Paths
title_full_unstemmed The Convergent Evolution of Blue Iris Pigmentation in Primates Took Distinct Molecular Paths
title_sort convergent evolution of blue iris pigmentation in primates took distinct molecular paths
description 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. Am J Phys Anthropol 151:398–407, 2013.© 2013 Wiley Periodicals, Inc.
publisher Blackwell Publishing Ltd
publishDate 2013
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3746105/
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