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Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation underlying Dun camouflage colour in horses

Imsland, Freyja (author)
Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
McGowan, Kelly (author)
HudsonAlpha Institute for Biotechnology / Department of Genetics, Stanford University School of Medicine
Rubin, Carl-Johan (author)
Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
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Henegar, Corneliu (author)
Department of Genetics, Stanford University School of Medicine
Sundström, Elisabeth (author)
Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
Berglund, Jonas (author)
Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
Schwochow, Doreen (author)
Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics,National Institute of Agricultural Research (INRA),Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences / INRA - AgroParisTech
Gustafson, Ulla (author)
Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics,Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences
Imsland, Páll (author)
Menntaskólinn við Hamrahlíð
Lindblad-Toh, Kerstin (author)
Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Broad Institute of Harvard and MIT
Lindgren, Gabriella (author)
Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics,Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences
Mikko, Sofia (author)
Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics,Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences
Millon, Lee (author)
Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis
Wade, Claire (author)
Broad Institute of Harvard and MIT
Schubert, Mikkel (author)
Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen
Orlando, Ludovic (author)
Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen
Penedo, Maria Cecilia T. (author)
Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis
Barsh, Gregory S. (author)
HudsonAlpha Institute for Biotechnology / Department of Genetics, Stanford University School of Medicine
Andersson, Leif (author)
Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Texas A&M University,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics,Uppsala University
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 (creator_code:org_t)
 
2015-12-21
2016
English.
In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:2, s. 152-158
Related links:
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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.

Subject headings

NATURVETENSKAP  -- Biologi -- Genetik (hsv//swe)
NATURAL SCIENCES  -- Biological Sciences -- Genetics (hsv//eng)
NATURVETENSKAP  -- Biologi -- Cellbiologi (hsv//swe)
NATURAL SCIENCES  -- Biological Sciences -- Cell Biology (hsv//eng)
LANTBRUKSVETENSKAPER  -- Bioteknologi med applikationer på växter och djur -- Genetik och förädling inom lantbruksvetenskap (hsv//swe)
AGRICULTURAL SCIENCES  -- Agricultural Biotechnology -- Genetics and Breeding in Agricultural Sciences (hsv//eng)

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