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Home / Equine Research Bank / Nat Genet / Regulatory mutations in TBX3 disrupt asymmetric hair pigment...
Nature genetics2015; 48(2); 152-158; doi: 10.1038/ng.3475

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

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.
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Publication Date: 2015-12-21 PubMed ID: 26691985PubMed Central: PMC4731265DOI: 10.1038/ng.3475Google Scholar: Lookup
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Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

This study discovered that genetic mutations in TBX3, a transcription factor, disrupt the usual distribution of hair pigmentation in horses, causing a particular camouflage colour known as Dun. They also identified two different Dun-disrupting alleles (non-dun1 and non-dun2), one of which predates horse domestication.

Understanding the Dun Coat Color

  • Dun is a unique coat color seen in wild horses characterized by diluted pigmentation and a distinct pattern of dark areas called primitive markings.
  • The researchers found that the pigment dilution in Dun horses occurs due to radially asymmetric deposition of the pigment in the growing hair. This irregular distribution of pigment is triggered by the localized expression of a transcription factor known as T-box 3 (TBX3) in the hair follicles of the horse.
  • TBX3 determines the distribution of melanocytes, cells that produce and contain pigments, in the hair follicles.

The Impact of TBX3 Disruptions

  • However, most domestic horses exhibit a condition known as non-dun, characterized by a more intensely pigmented phenotype. This is due to mutations that disrupt TBX3 expression.
  • These mutations result in impaired TBX3 expression in the hair follicle and lead to a more uniform, or circumferential, distribution of melanocytes and pigment granules in each hair, causing intense color pigmentation.

Identifying Non-dun Alleles

  • The researchers identified two different alleles responsible for the non-dun color, termed non-dun1 and non-dun2.
  • The non-dun2 allele is a recent one, while both Dun and non-dun1 alleles have been identified in ancient horse DNA. This indicates that this particular genetic variance predates horse domestication.

Implications of the Research

  • This study reveals a new developmental role for T-box genes, which were previously unassociated with hair follicle biology and pigmentation.
  • Understanding the mechanisms of coat color regulation may have broader implications for scientific understanding of genetic regulation of pigmentation, and for the development of new strategies for color manipulation in breeding programs.

Cite This Article

APA
Imsland F, McGowan K, Rubin CJ, Henegar C, Sundström E, Berglund J, Schwochow D, Gustafson U, Imsland P, Lindblad-Toh K, Lindgren G, Mikko S, Millon L, Wade C, Schubert M, Orlando L, Penedo MC, Barsh GS, Andersson L. (2015). Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses. Nat Genet, 48(2), 152-158. https://doi.org/10.1038/ng.3475

Publication

Nature genetics
ISSN: 1546-1718
NlmUniqueID: 9216904
Country: United States
Language: English
Volume: 48
Issue: 2
Pages: 152-158

Researcher Affiliations

Imsland, Freyja
  • Science for Life Laboratory Uppsala, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
McGowan, Kelly
  • HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
  • Department of Genetics, Stanford University School of Medicine, Stanford, California, USA.
Rubin, Carl-Johan
  • Science for Life Laboratory Uppsala, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Henegar, Corneliu
  • Department of Genetics, Stanford University School of Medicine, Stanford, California, USA.
Sundström, Elisabeth
  • Science for Life Laboratory Uppsala, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Berglund, Jonas
  • Science for Life Laboratory Uppsala, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Schwochow, Doreen
  • Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
  • Institut National de la Recherche Agronomique (INRA), AgroParisTech, Génetique Animale et Biologie Intégrative, Jouy-en-Josas, France.
Gustafson, Ulla
  • Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Imsland, Páll
  • Menntaskólinn við Hamrahlíð, Reykjavík, Iceland.
Lindblad-Toh, Kerstin
  • Science for Life Laboratory Uppsala, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
  • Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
Lindgren, Gabriella
  • Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Mikko, Sofia
  • Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Millon, Lee
  • Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, Davis, California, USA.
Wade, Claire
  • Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
Schubert, Mikkel
  • Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Copenhagen, Denmark.
Orlando, Ludovic
  • Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Copenhagen, Denmark.
Penedo, Maria Cecilia T
  • Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, Davis, California, USA.
Barsh, Gregory S
  • HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
  • Department of Genetics, Stanford University School of Medicine, Stanford, California, USA.
Andersson, Leif
  • Science for Life Laboratory Uppsala, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
  • Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
  • Department of Veterinary Integrative Biosciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, Texas, USA.

MeSH Terms

  • Animals
  • Gene Expression Profiling
  • Hair Color / genetics
  • Hair Follicle / metabolism
  • Horses / genetics
  • Mutation
  • Skin / metabolism
  • T-Box Domain Proteins / genetics

Grant Funding

  • R01 AR067925 / NIAMS NIH HHS

Conflict of Interest Statement

. The authors declare no competing financial interests.

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