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A frame-shift mutation in COMTD1 is associated with impaired pheomelanin pigmentation in chicken

Bi, Huijuan (author)
Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
Tranell, Jonas (author)
Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
Harper, Dawn C. (author)
Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA USA.;Childrens Hosp Philadelphia, Dept Physiol, Philadelphia, PA USA.;Univ Penn, Perelman Sch Med, Philadelphia, PA USA.
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Lin, Weifeng (author)
Uppsala universitet,Analytisk kemi
Li, Jingyi (author)
Huazhong Agr Univ, Coll Anim Sci & Technol, Key Lab Agr Anim Genet Breeding & Reprod, Minist Educ, Wuhan, Hubei, Peoples R China.
Hellström, Anders R. (author)
Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
Larsson, Mårten (author)
Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
Rubin, Carl-Johan (author)
Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
Wang, Chao (author)
Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
Sayyab, Shumaila (author)
Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, Sweden.,Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA USA.;Childrens Hosp Philadelphia, Dept Physiol, Philadelphia, PA USA.;Univ Penn, Perelman Sch Med, Philadelphia, PA USA.
Kerje, Susanne (author)
Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala University
Bed'hom, Bertrand (author)
Univ Paris Saclay, INRAE, AgroParisTech, GABI, F-78350 Jouy En Josas, France.
Gourichon, David (author)
PEAT, INRAE, Nouzilly, France.
Ito, Shosuke (author)
Fujita Hlth Univ, Inst Melanin Chem, Toyoake, Aichi, Japan.
Wakamatsu, Kazumasa (author)
Fujita Hlth Univ, Inst Melanin Chem, Toyoake, Aichi, Japan.
Tixier-Boichard, Michele (author)
Univ Paris Saclay, INRAE, AgroParisTech, GABI, F-78350 Jouy En Josas, France.
Marks, Michael S. (author)
Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA USA.;Childrens Hosp Philadelphia, Dept Physiol, Philadelphia, PA USA.;Univ Penn, Perelman Sch Med, Philadelphia, PA USA.
Globisch, Daniel (author)
Uppsala universitet,Analytisk kemi
Andersson, Leif (author)
Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, Sweden.;Texas A&M Univ, Dept Vet Integrat Biosci, College Stn, TX 77843 USA.,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics,Uppsala University,Texas A&M University
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Public Library of Science (PLoS), 2023
2023
English.
In: PLOS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 19:4
Related links:
https://doi.org/10.1...
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • The biochemical pathway regulating the synthesis of yellow/red pheomelanin is less well characterized than the synthesis of black/brown eumelanin. Inhibitor of gold (IG phenotype) is a plumage colour variant in chicken that provides an opportunity to further explore this pathway since the recessive allele (IG) at this locus is associated with a defect in the production of pheomelanin. IG/IG homozygotes display a marked dilution of red pheomelanin pigmentation, whilst black pigmentation (eumelanin) is only slightly affected. Here we show that a 2-base pair insertion (frame-shift mutation) in the 5th exon of the Catechol-O-methyltransferase containing domain 1 gene (COMTD1), expected to cause a complete or partial loss-of-function of the COMTD1 enzyme, shows complete concordance with the IG phenotype within and across breeds. We show that the COMTD1 protein is localized to mitochondria in pigment cells. Knockout of Comtd1 in a mouse melanocytic cell line results in a reduction in pheomelanin metabolites and significant alterations in metabolites of glutamate/glutathione, riboflavin, and the tricarboxylic acid cycle. Furthermore, COMTD1 overexpression enhanced cellular proliferation following chemical-induced transfection, a potential inducer of oxidative stress. These observations suggest that COMTD1 plays a protective role for melanocytes against oxidative stress and that this supports their ability to produce pheomelanin.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinsk bioteknologi -- Medicinsk bioteknologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Medical Biotechnology -- Medical Biotechnology (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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