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A cis-Regulatory Mutation of PDSS2 Causes Silky-Feather in Chickens
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology. Uppsala University, Science for Life Laboratory, SciLifeLab.
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2014 (English)In: PLOS Genetics, ISSN 1553-7390, E-ISSN 1553-7404, Vol. 10, no 8, e1004576- p.Article in journal (Refereed) Published
Abstract [en]

Silky-feather has been selected and fixed in some breeds due to its unique appearance. This phenotype is caused by a single recessive gene (hookless, h). Here we map the silky-feather locus to chromosome 3 by linkage analysis and subsequently fine-map it to an 18.9 kb interval using the identical by descent (IBD) method. Further analysis reveals that a C to G transversion located upstream of the prenyl (decaprenyl) diphosphate synthase, subunit 2 (PDSS2) gene is causing silky-feather. All silky-feather birds are homozygous for the G allele. The silky-feather mutation significantly decreases the expression of PDSS2 during feather development in vivo. Consistent with the regulatory effect, the C to G transversion is shown to remarkably reduce PDSS2 promoter activity in vitro. We report a new example of feather structure variation associated with a spontaneous mutation and provide new insight into the PDSS2 function.

Place, publisher, year, edition, pages
2014. Vol. 10, no 8, e1004576- p.
National Category
Medical Genetics Basic Medicine
URN: urn:nbn:se:uu:diva-234208DOI: 10.1371/journal.pgen.1004576ISI: 000341577800054OAI: oai:DiVA.org:uu-234208DiVA: diva2:755940
Available from: 2014-10-15 Created: 2014-10-15 Last updated: 2014-10-15Bibliographically approved

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Rubin, Carl-JohanAndersson, Leif
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Department of Medical Biochemistry and MicrobiologyScience for Life Laboratory, SciLifeLab
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