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Molecular coat colour genetics

dominant white in pigs and greying with age in horses

Pielberg, Gerli (2004). Molecular coat colour genetics. Diss. (sammanfattning/summary) Uppsala : Sveriges lantbruksuniv., Acta Universitatis Agriculturae Sueciae. Agraria, 1401-6249 ; 500
ISBN 91-576-6779-9
[Doctoral thesis]

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Coat colour, being sufficiently easy to observe and score, is a model phenotype for studying gene action and interaction. Farm animals provide us a valuable resource for identifying genes behind such phenotypic traits, because they show a remarkably higher diversity in coat colour compared to natural populations. This thesis concerns two different farm animal coat colour phenotypes. First, the dominant white phenotype in domestic pigs is studied. It has been previously determined that white coat colour in domestic pigs is caused by two mutations in the KIT gene – a gene duplication and a splice mutation in one of the copies. The genetic analysis of such a locus with many alleles is complicated. Pyrosequencing and minisequencing are the methods applied in present studies for quantitative analysis of the splice mutation and unexpectedly high allelic diversity at the porcine KIT locus was revealed. Furthermore, a method based on pyrosequencing for analysing gene copy numbers, using this locus as a model, was developed. This method is based on a competitive amplification of the breakpoint regions from duplicated and normal copies of KIT and quantification of the products. This strategy, analysing genes with multiple copies, could have a much broader use than just analysing porcine KIT locus. For instance, several human genetic diseases are caused by changes in gene copy number and analysis of these genes has been quite complicated. The second part of the thesis is summarising the greying with age phenotype in horses. These horses are born coloured, turn progressively grey and most of them develop melanoma. The locus responsible for this phenotype has been mapped to horse chromosome 25, homologous to human chromosome 9. Two Swedish Warmblood horse families were used in present studies to perform a comparative linkage mapping of the Grey locus. The identified interval region has no obvious candidate genes affecting coat colour or melanoma development. Since this mutation occurred most probably only once, thousands of years ago, the identification of a minimum shared haplotype among individuals from different breeds should reveal the gene and the mutation behind this fascinating phenotype.

Authors/Creators:Pielberg, Gerli
Title:Molecular coat colour genetics
Subtitle:dominant white in pigs and greying with age in horses
Series Name/Journal:Acta Universitatis Agriculturae Sueciae. Agraria
Year of publishing :November 2004
Number of Pages:34
ALLI. Pielberg, G., Olsson, C., Syvänen, A.C. & Andersson, L. 2002. Unexpectedly high allelic diversity at the KIT locus causing dominant white color in the domestic pig. Genetics 160, 305-311. II. Pielberg, G., Day, A.E., Plastow, G.S. & Andersson, L. 2003. A sensitive method for detecting variation in copy numbers of duplicated genes. Genome Research 13, 2171-2177. III. Pielberg, G., Mikko, S., Sandberg, K. & Andersson, L. Comparative linkage mapping of the grey coat colour gene in horses. (Manuscript).
Place of Publication:Uppsala
ISBN for printed version:91-576-6779-9
Publication Type:Doctoral thesis
Full Text Status:Public
Agris subject categories.:L Animal production > L10 Animal genetics and breeding
Subjects:Not in use, please see Agris categories
Agrovoc terms:colour, swine, horses, dominant genes, replication, genetic maps, breeds (animals), sweden
Keywords:coat colour, farm animals, dominant white in pigs, duplication, pyrosequencing, greying with age in horses, comparative linkage mapping
Permanent URL:
ID Code:693
Department:(NL, NJ) > Institutionen för husdjursgenetik (fr.o.m. 960101)
Deposited By: Gerli Pielberg
Deposited On:17 Nov 2004 00:00
Metadata Last Modified:02 Dec 2014 10:06

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