Evidence map›Paper›PMID 24508169›Full record

ArticleCurrent biology : CB2014

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 A Leachman, John W Fondon and 2 more

Open access · bronzeAbstract read
In one paragraph

Article in Current biology : CB, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.

0numbers the graph read from it
0cells of the map it votes in
47citing papers in PubMed
2.6field-weighted citation impact, top 11% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

47 citing papers in PubMed, 103 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 4 institutions in 1 country.

Eric T DomyanDepartment of Biology, University of Utah, Salt Lake City, UT 84112, USA.
Michael W GuernseyDepartment of Biology, University of Utah, Salt Lake City, UT 84112, USA.
Zev KronenbergDepartment of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA.
Shreyas KrishnanDepartment of Biology, University of Texas at Arlington, Arlington, TX 76019, USA.
Raymond E BoissyDepartment of Dermatology, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA.
Anna I VickreyDepartment of Biology, University of Utah, Salt Lake City, UT 84112, USA.
Clifford RodgersDepartment of Biology, University of Texas at Arlington, Arlington, TX 76019, USA.
Pamela CassidyHuntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA; Department of Dermatology, Oregon Health & Science University, Portland, OR 97239, USA.
Sancy A LeachmanHuntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA; Department of Dermatology, Oregon Health & Science University, Portland, OR 97239, USA.
John W FondonDepartment of Biology, University of Texas at Arlington, Arlington, TX 76019, USA.
Mark YandellDepartment of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA.
Michael D ShapiroDepartment of Biology, University of Utah, Salt Lake City, UT 84112, USA. Electronic address: shapiro@biology.utah.edu.
University of Utah · USThe University of Texas at Arlington · USOregon Health & Science University · USUniversity of Cincinnati Medical Center · US

Funding

DEVELOPMENTAL BIOLOGY TRAINING PROGRAMT32HD007491 · NICHD · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI James Alan Gagnon, Kristen M Kwan · 1995 to 2026
$8.0M
TRAINING PROGRAM IN GENETICST32GM007464 · NIGMS · UNIVERSITY OF UTAH · PI GRUNWALD, DAVID J., STANFIELD, GILLIAN · 1985 to 2020
$6.1M
Software for the creation and quality control of genome annotationsR01HG004694 · NHGRI · UNIVERSITY OF UTAH · PI YANDELL, MARK DOUGLAS · 2008 to 2011
$2.2M
VAAST+: Tool for variant prioritization, risk assessment and disease-gene findingR01GM104390 · NIGMS · UNIVERSITY OF UTAH · PI JORDE, LYNN, YANDELL, MARK DOUGLAS · 2013 to 2017
$2.2M
Tool for annotation and analyses of human whole-genome sequence variation dataRC2HG005619 · NHGRI · UNIVERSITY OF UTAH · PI REESE, MARTIN G, YANDELL, MARK DOUGLAS · 2009 to 2010
$785k
Determining the genetic and developmental basis of epidermal appendage evolutionF32GM103077 · NIGMS · UNIVERSITY OF UTAH · PI DOMYAN, ERIC · 2013 to 2014
$102k
NHGRI NIH HHS R01 HG004694NHGRI NIH HHS R01HG004694NHGRI NIH HHS RC2 HG005619NHGRI NIH HHS RC2HG005619NICHD NIH HHS T32 HD007491NICHD NIH HHS T32HD07491NIGMS NIH HHS F32 GM103077NIGMS NIH HHS F32GM103077NIGMS NIH HHS R01 GM104390NIGMS NIH HHS R01GM104390NIGMS NIH HHS T32 GM007464NIGMS NIH HHS T32GM007464
6 · The paper itself

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, 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.

Indexed as

Epistasis, GeneticMutationPigmentationAnimalsAntigens, NeoplasmAvian ProteinsColorColumbidaeMembrane GlycoproteinsMembrane Transport ProteinsMolecular Sequence DataOxidoreductasesPhenotypeSOXE Transcription FactorsAntigens, NeoplasmAvian ProteinsMembrane GlycoproteinsMembrane Transport ProteinsOxidoreductasesSOXE Transcription Factors

Identifiers

PMID24508169
PMCPMC3990261
OpenAlexW2162911475

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.