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A Simple Repeat Pol...
A Simple Repeat Polymorphism in the MITF-M Promoter Is a Key Regulator of White Spotting in Dogs
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- Baranowska Körberg, Izabella (author)
- Karolinska Institutet,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, Uppsala, Sweden
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- Sundström, Elisabeth (author)
- Uppsala universitet,Genomik,Science for Life Laboratory, SciLifeLab,Institutionen för medicinsk biokemi och mikrobiologi,Uppsala University
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- Meadows, Jennifer R. S. (author)
- Uppsala universitet,Genomik,Science for Life Laboratory, SciLifeLab,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
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- Pielberg, Gerli Rosengren (author)
- Uppsala universitet,Genomik,Science for Life Laboratory, SciLifeLab,Institutionen för medicinsk biokemi och mikrobiologi
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- Gustafson, Ulla (author)
- Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics
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- Hedhammar, Åke (author)
- Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för kliniska vetenskaper (KV),Department of Clinical Sciences
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Karlsson, Elinor K. (author)
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- Seddon, Jennifer (author)
- Uppsala universitet,Genomik,Science for Life Laboratory, SciLifeLab
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Soderberg, Arne (author)
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Vila, Carles (author)
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Zhang, Xiaolan (author)
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- Åkesson, Mikael (author)
- Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för ekologi,Department of Ecology
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- Lindblad-Toh, Kerstin (author)
- Uppsala universitet,Genomik,Science for Life Laboratory, SciLifeLab,Institutionen för medicinsk biokemi och mikrobiologi
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- Andersson, Göran (author)
- Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics
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- Andersson, Leif (author)
- Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics,Texas A&M University
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(creator_code:org_t)
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- 2014-08-12
- 2014
- English.
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In: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 9:8, s. e104363-
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Abstract
Subject headings
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- The white spotting locus (S) in dogs is colocalized with the MITF (microphtalmia-associated transcription factor) gene. The phenotypic effects of the four S alleles range from solid colour (S) to extreme white spotting (s(w)). We have investigated four candidate mutations associated with the s(w) allele, a SINE insertion, a SNP at a conserved site and a simple repeat polymorphism all associated with the MITF-M promoter as well as a 12 base pair deletion in exon 1B. The variants associated with white spotting at all four loci were also found among wolves and we conclude that none of these could be a sole causal mutation, at least not for extreme white spotting. We propose that the three canine white spotting alleles are not caused by three independent mutations but represent haplotype effects due to different combinations of causal polymorphisms. The simple repeat polymorphism showed extensive diversity both in dogs and wolves, and allele-sharing was common between wolves and white spotted dogs but was non-existent between solid and spotted dogs as well as between wolves and solid dogs. This finding was unexpected as Solid is assumed to be the wild-type allele. The data indicate that the simple repeat polymorphism has been a target for selection during dog domestication and breed formation. We also evaluated the significance of the three MITF-M associated polymorphisms with a Luciferase assay, and found conclusive evidence that the simple repeat polymorphism affects promoter activity. Three alleles associated with white spotting gave consistently lower promoter activity compared with the allele associated with solid colour. We propose that the simple repeat polymorphism affects cooperativity between transcription factors binding on either flanking sides of the repeat. Thus, both genetic and functional evidence show that the simple repeat polymorphism is a key regulator of white spotting in dogs.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinsk bioteknologi -- Medicinsk bioteknologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Medical Biotechnology -- Medical Biotechnology (hsv//eng)
- NATURVETENSKAP -- Biologi -- Zoologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Zoology (hsv//eng)
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
- LANTBRUKSVETENSKAPER -- Veterinärmedicin -- Medicinsk biovetenskap (hsv//swe)
- AGRICULTURAL SCIENCES -- Veterinary Science -- Medical Bioscience (hsv//eng)
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Baranowska Körbe ...
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Sundström, Elisa ...
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Meadows, Jennife ...
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Pielberg, Gerli ...
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Gustafson, Ulla
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Hedhammar, Åke
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Karlsson, Elinor ...
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Seddon, Jennifer
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Soderberg, Arne
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Vila, Carles
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Zhang, Xiaolan
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Åkesson, Mikael
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Lindblad-Toh, Ke ...
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Andersson, Göran
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Andersson, Leif
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Medical Biotechn ...
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and Medical Biotechn ...
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NATURAL SCIENCES
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and Biological Scien ...
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and Zoology
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Genetics
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AGRICULTURAL SCI ...
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and Veterinary Scien ...
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and Medical Bioscien ...
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PLOS ONE
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Uppsala University
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Swedish University of Agricultural Sciences
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Karolinska Institutet