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The Dominant white, Dun and Smoky colour variants in chicken are associated with insertion/deletion polymorphisms in the PMEL17 gene
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
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(English)Manuscript (Other academic)
URN: urn:nbn:se:uu:diva-91077OAI: oai:DiVA.org:uu-91077DiVA: diva2:163665
Available from: 2003-11-13 Created: 2003-11-13 Last updated: 2011-06-30Bibliographically approved
In thesis
1. Mapping Genes Affecting Phenotypic Traits in Chicken
Open this publication in new window or tab >>Mapping Genes Affecting Phenotypic Traits in Chicken
2003 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

The purpose of gene mapping is to understand the underlying genetics of simple and complex traits like plumage colour and growth. This thesis is based on a cross between the wild ancestor of the modern chicken, the red junglefowl, and a White Leghorn line selected for high egg mass. There are obvious phenotypic differences between these two breeds in several aspects such as growth, egg production and behaviour. These complex traits are often influenced by a number of genes or Quantitative Trait Loci (QTL) as well as environmental factors.

Identification of QTL regions involves testing of association between genetic markers and the phenotype of interest. The QTL identified in this study explain most of the difference in adult body weight between the red junglefowl and the White Leghorn, but less of the difference at earlier age. By applying a different method for detection of QTL, including gene interactions, epistasis, we can understand more of the genetics behind early growth. The allele coming from the red junglefowl is generally associated with lower weight, egg production and food consumption.

In this study we have also identified two genes explaining the difference in plumage colour in the cross. The Extension locus, encoded by the melanocortin receptor 1 (MC1R), controls the amount of pigment produced has shown to be associated with plumage colour. A mutation in the MC1R gene causes black pigmentation of the plumage.

We have also found association between the PMEL17 gene, known to be involved in normal pigmentation, and the Dominant white phenotype present in the White Leghorn. After comparison of sequences from different alleles at the Dominant white locus, amino acid alteration caused by insertion and deletion in the transmembrane region of the PMEL17 protein has been revealed. These mutations are associated with alleles representing different plumage colour variants.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2003. 40 p.
Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 0282-7476 ; 1304
Genetics, chicken, Quantitative Trait Loci, growth, egg production, epistasis, plumage colour, Extended black, MC1R, Dominant white, PMEL17, Genetik
National Category
Medical Genetics
urn:nbn:se:uu:diva-3776 (URN)91-554-5805-X (ISBN)
Public defence
2003-12-16, B42, BMC, Husargatan 3, Uppsala, 09:15
Available from: 2003-11-13 Created: 2003-11-13Bibliographically approved

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Andersson, Leif
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Department of Medical Biochemistry and Microbiology

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