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A frameshift mutation in COMTD1 specifically dilutes pheomelanin pigmentation in chicken
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
(Institutionen för medicinsk biokemi och mikrobiologi, Department of Medical Biochemistry and Microbiology)
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
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(English)Manuscript (preprint) (Other academic)
National Category
Genetics
Research subject
Molecular Genetics
Identifiers
URN: urn:nbn:se:uu:diva-162593OAI: oai:DiVA.org:uu-162593DiVA: diva2:463798
Available from: 2011-12-12 Created: 2011-12-01 Last updated: 2012-01-16
In thesis
1. Genetic and Genomic Studies in Chicken: Assigning Function to Vertebrate Genes
Open this publication in new window or tab >>Genetic and Genomic Studies in Chicken: Assigning Function to Vertebrate Genes
2012 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

A major challenge in the post-genomic era is to understand how genome sequence variants (genotype) give rise to the enormous diversity observed in terms of morphology, physiology and behavior (phenotype) among living organisms. Domestic animals—with their tremendous phenotypic variation—are excellent model organisms for determining the relationships between genotype and phenotype. In this thesis, I describe the utilization of the chicken, in combination with modern genetic and genomic approaches, in developing our understanding of the genetic mechanisms underlying phenotypic variation. These studies provide novel information on the genetics behind variation in carotenoid- and melanin-based pigmentation—observed in many organisms—and also cast light on the genetic basis of chicken domestication.

In paper I, we report that the yellow skin phenotype—observed in most commercial chickens—is caused by one or several tissue-specific mutations altering the expression of beta-carotene oxygenase 2 (BCO2 or BCDO2) in skin. In addition, we present the first conclusive evidence of a hybrid origin of the domestic chicken, since the allele causing yellow skin most likely originates from the grey jungle fowl (Gallus sonneratii) and not from the previously described sole ancestor, the red jungle fowl (Gallus gallus).

In paper II, we detect a number of loci that were likely important during the domestication process of chicken and the later specialization into meat (broiler) and egg (layer) producing lines. One of the major findings was that worldwide, almost all domestic chickens carry a missense mutation in TSHR (thyroid stimulating hormone receptor) in a position that is completely conserved amongst vertebrates. We speculate that this “domestication-mutation” has played an important role in the transformation of the wild red jungle fowl ancestor into the modern domestic chicken.

In paper III, we demonstrate that the dilution of red (pheomelanin) pigmentation—observed in the plumage of the Inhibitor of Gold chicken—is caused by a frame-shift mutation in the catechol-O-methyltransferase domain containing 1 (COMTD1) gene. The production and regulation of pheomelanin is poorly understood and this discovery advances our current knowledge of this pathway.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2012. 56 p.
Series
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 732
Keyword
Chicken, BCO2, TSHR, COMTD1, Phenotypic variation, Domestication, Selective sweeps, Pigmentation
National Category
Medical and Health Sciences
Research subject
Molecular Genetics
Identifiers
urn:nbn:se:uu:diva-162597 (URN)978-91-554-8246-6 (ISBN)
Public defence
2012-02-03, B42, BMC, Husargatan 3, Uppsala, 09:15 (English)
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Supervisors
Available from: 2012-01-13 Created: 2011-12-01 Last updated: 2012-01-16Bibliographically approved

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Eriksson, JonasAndersson, Leif

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