Evidence map›Paper›PMID 26691985›Full record

ArticleNature genetics2016

Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses.

Freyja Imsland, Kelly McGowan, Carl-Johan Rubin, Corneliu Henegar, Elisabeth Sundström, Jonas Berglund, Doreen Schwochow, Ulla Gustafson, Páll Imsland, Kerstin Lindblad-Toh and 9 more

Open access · greenAbstract read
In one paragraph

Article in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.

0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed
2.8field-weighted citation impact, top 10% 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

43 citing papers in PubMed, 85 citations in OpenAlex.

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  15. The genetic basis of novel trait gain in walking fish.bioRxiv : the preprint server for biology · 2023
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  16. Neural crest cells as a source of microevolutionary variation.Seminars in cell & developmental biology · 2023
    Review
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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

19 authors at 7 institutions in 4 countries.

Freyja ImslandScience for Life Laboratory Uppsala, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Kelly McGowanHudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
Carl-Johan RubinScience for Life Laboratory Uppsala, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Corneliu HenegarDepartment of Genetics, Stanford University School of Medicine, Stanford, California, USA.
Elisabeth SundströmScience for Life Laboratory Uppsala, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Jonas BerglundScience for Life Laboratory Uppsala, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Doreen SchwochowDepartment of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Ulla GustafsonDepartment of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Páll ImslandMenntaskólinn við Hamrahlíð, Reykjavík, Iceland.
Kerstin Lindblad-TohScience for Life Laboratory Uppsala, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Gabriella LindgrenDepartment of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Sofia MikkoDepartment of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Lee MillonVeterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, Davis, California, USA.
Claire WadeBroad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.ORCID http://orcid.org/0000-0003-3413-4771
Mikkel SchubertCentre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Copenhagen, Denmark.
Ludovic OrlandoCentre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Copenhagen, Denmark.
Maria Cecilia T PenedoVeterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, Davis, California, USA.
Gregory S BarshHudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
Leif AnderssonScience for Life Laboratory Uppsala, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Uppsala University · SESwedish University of Agricultural Sciences · SEBroad Institute · USHudsonAlpha Institute for Biotechnology · USUniversity of California, Davis · USUniversity of Copenhagen · DKStanford University · US

Funding

Melanocortin signaling: genetic insight from X-linked color mutations in non-model organismsR01AR067925 · NIAMS · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI BARSH, GREGORY STEFAN · 2015 to 2019
$1.6M
NIAMS NIH HHS R01 AR067925
6 · The paper itself

Abstract

Dun is a wild-type coat color in horses characterized by pigment dilution with a striking pattern of dark areas termed primitive markings. Here we show that pigment dilution in Dun horses is due to radially asymmetric deposition of pigment in the growing hair caused by localized expression of the T-box 3 (TBX3) transcription factor in hair follicles, which in turn determines the distribution of hair follicle melanocytes. Most domestic horses are non-dun, a more intensely pigmented phenotype caused by regulatory mutations impairing TBX3 expression in the hair follicle, resulting in a more circumferential distribution of melanocytes and pigment granules in individual hairs. We identified two different alleles (non-dun1 and non-dun2) causing non-dun color. non-dun2 is a recently derived allele, whereas the Dun and non-dun1 alleles are found in ancient horse DNA, demonstrating that this polymorphism predates horse domestication. These findings uncover a new developmental role for T-box genes and new aspects of hair follicle biology and pigmentation.

Indexed as

MutationAnimalsGene Expression ProfilingHair ColorHair FollicleHorsesSkinT-Box Domain ProteinsT-Box Domain Proteins

Identifiers

PMID26691985
PMCPMC4731265
OpenAlexW1446091653

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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.