Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon

Eric T. Domyan, Michael W. Guernsey, Zev Kronenberg, Shreyas Krishnan, Raymond E. Boissy, Anna I. Vickrey, Clifford Rodgers, Pamela Cassidy, Sancy Leachman, John W. Fondon, Mark Yandell, Michael D. Shapiro

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

Understanding the molecular basis of phenotypic diversity is a critical challenge in biology, yet we know little about the mechanistic effects of different mutations and epistatic relationships among loci that contribute to complex traits. Pigmentation genetics offers a powerful model for identifying mutations underlying diversity and for determining how additional complexity emerges from interactions among loci. Centuries of artificial selection in domestic rock pigeons (Columba livia) have cultivated tremendous variation in plumage pigmentation through the combined effects of dozens of loci. The dominance and epistatic hierarchies of key loci governing this diversity are known through classical genetic studies [1-6], but their molecular identities and the mechanisms of their genetic interactions remain unknown. Here we identify protein-coding and cis-regulatory mutations in Tyrp1, Sox10, and Slc45a2 that underlie classical color phenotypes of pigeons and present a mechanistic explanation of their dominance and epistatic relationships. We also find unanticipated allelic heterogeneity at Tyrp1 and Sox10, indicating that color variants evolved repeatedly though mutations in the same genes. These results demonstrate how a spectrum of coding and regulatory mutations in a small number of genes can interact to generate substantial phenotypic diversity in a classic Darwinian model of evolution [7].

Original languageEnglish (US)
Pages (from-to)459-464
Number of pages6
JournalCurrent Biology
Volume24
Issue number4
DOIs
StatePublished - Feb 17 2014

Fingerprint

Columba livia
Columbidae
Genes
Color
mutation
Mutation
loci
Pigmentation
genes
pigmentation
Rocks
dominance (genetics)
Social Dominance
artificial selection
color
plumage
Proteins
pigeons
Phenotype
phenotype

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Domyan, E. T., Guernsey, M. W., Kronenberg, Z., Krishnan, S., Boissy, R. E., Vickrey, A. I., ... Shapiro, M. D. (2014). Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon. Current Biology, 24(4), 459-464. https://doi.org/10.1016/j.cub.2014.01.020

Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon. / Domyan, Eric T.; Guernsey, Michael W.; Kronenberg, Zev; Krishnan, Shreyas; Boissy, Raymond E.; Vickrey, Anna I.; Rodgers, Clifford; Cassidy, Pamela; Leachman, Sancy; Fondon, John W.; Yandell, Mark; Shapiro, Michael D.

In: Current Biology, Vol. 24, No. 4, 17.02.2014, p. 459-464.

Research output: Contribution to journalArticle

Domyan, ET, Guernsey, MW, Kronenberg, Z, Krishnan, S, Boissy, RE, Vickrey, AI, Rodgers, C, Cassidy, P, Leachman, S, Fondon, JW, Yandell, M & Shapiro, MD 2014, 'Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon', Current Biology, vol. 24, no. 4, pp. 459-464. https://doi.org/10.1016/j.cub.2014.01.020
Domyan ET, Guernsey MW, Kronenberg Z, Krishnan S, Boissy RE, Vickrey AI et al. Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon. Current Biology. 2014 Feb 17;24(4):459-464. https://doi.org/10.1016/j.cub.2014.01.020
Domyan, Eric T. ; Guernsey, Michael W. ; Kronenberg, Zev ; Krishnan, Shreyas ; Boissy, Raymond E. ; Vickrey, Anna I. ; Rodgers, Clifford ; Cassidy, Pamela ; Leachman, Sancy ; Fondon, John W. ; Yandell, Mark ; Shapiro, Michael D. / Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon. In: Current Biology. 2014 ; Vol. 24, No. 4. pp. 459-464.
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