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Genetics, Vol. 178, 771-775, February 2008, Copyright © 2008
doi:10.1534/genetics.107.077040
Recessive black Is Allelic to the yellow Plumage Locus in Japanese Quail and Associated With a Frameshift Deletion in the ASIP Gene
Takahiro Hiragaki*,
Miho Inoue-Murayama*,1,
Mitsuru Miwa*,
Akira Fujiwara
,
Makoto Mizutani
,
Francis Minvielle
and
Shin'ichi Ito*
* Faculty of Applied Biological Sciences, Gifu University, Gifu 501-1193, Japan, Faculty of Agriculture, Shinshu University, Nagano 399-4598, Japan, Graduate School of Bioagricultural Sciences, Nagoya University, Nagoya 464-8601, Japan and UMR INRA/INA-PG Génétique et Diversité Animales, 78352 Jouy-en-Josas, France
1 Corresponding author: Faculty of Applied Biological Sciences, Gifu University, Gifu 501-1193, Japan.
E-mail: miho-i{at}gifu-u.ac.jp
The recessive black plumage mutation in the Japanese quail (Coturnix japonica) is controlled by an autosomal recessive gene (rb) and displays a blackish-brown phenotype in the recessive homozygous state (rb/rb). A similar black coat color phenotype in nonagouti mice is caused by an autosomal recessive mutation at the agouti locus. An allelism test showed that wild type and mutations for yellow, fawn-2, and recessive black in Japanese quail were multiple alleles (*N, *Y, *F2, and *RB) at the same locus Y and that the dominance relationship was Y*F2 > Y*Y > Y*N > Y*RB. A deletion of 8 bases was found in the ASIP gene in the Y*RB allele, causing a frameshift that changed the last six amino acids, including a cysteine residue, and removed the normal stop codon. Since the cysteine residues at the C terminus are important for disulphide bond formation and tertiary structure of the agouti signaling protein, the deletion is expected to cause a dysfunction of ASIP as an antagonist of 
-MSH in the Y*RB allele. This is the first evidence that the ASIP gene, known to be involved in coat color variation in mammals, is functional and has a similar effect on plumage color in birds.
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