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Genetics, Vol. 178, 777-786, February 2008, Copyright © 2008
doi:10.1534/genetics.107.077073

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Characterization of Japanese Quail yellow as a Genomic Deletion Upstream of the Avian Homolog of the Mammalian ASIP (agouti) Gene

Nicola J. Nadeau*, Francis Minvielle{dagger}, Shin'ichi Ito{ddagger}, Miho Inoue-Murayama{ddagger}, David Gourichon§, Sarah A. Follett**, Terry Burke** and Nicholas I. Mundy*,1

* Department of Zoology, University of Cambridge, Cambridge CB2 3EJ, United Kingdom, {dagger} UMR INRA/INA-PG Génétique et Diversité Animales, 78352 Jouy-en-Josas, France, {ddagger} Faculty of Applied Biological Sciences, Gifu University, Gifu 501-1193, Japan, § UE997 INRA Génétique Factorielle Avicole, INRA, 37380 Nouzilly, France and ** Department of Animal and Plant Sciences, University of Sheffield, Sheffield S10 2TN, United Kingdom

1 Corresponding author: Department of Zoology, University of Cambridge, Downing St., Cambridge CB2 3EJ, United Kingdom.
E-mail: nim21{at}cam.ac.uk

ASIP is an important pigmentation gene responsible for dorsoventral and hair-cycle-specific melanin-based color patterning in mammals. We report some of the first evidence that the avian ASIP gene has a role in pigmentation. We have characterized the genetic basis of the homozygous lethal Japanese quail yellow mutation as a >90-kb deletion upstream of ASIP. This deletion encompasses almost the entire coding sequence of two upstream loci, RALY and EIF2B, and places ASIP expression under control of the RALY promoter, leading to the presence of a novel transcript. ASIP mRNA expression was upregulated in many tissues in yellow compared to wild type but was not universal, and consistent differences were not observed among skins of yellow and wild-type quail. In a microarray analysis on developing feather buds, the locus with the largest downregulation in yellow quail was SLC24A5, implying that it is regulated by ASIP. Finally, we document the presence of ventral skin-specific isoforms of ASIP mRNA in both wild-type quails and chickens. Overall, there are remarkable similarities between yellow in quail and lethal yellow in mouse, which involve a deletion in a similar genomic position. The presence of ventral-specific ASIP expression in birds shows that this feature is conserved across vertebrates.




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T. Hiragaki, M. Inoue-Murayama, M. Miwa, A. Fujiwara, M. Mizutani, F. Minvielle, and S. Ito
Recessive black Is Allelic to the yellow Plumage Locus in Japanese Quail and Associated With a Frameshift Deletion in the ASIP Gene
Genetics, February 1, 2008; 178(2): 771 - 775.
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