OMIA 001602-93934 : Feather colour, yellow in Coturnix japonica
Nadeau et al. (2008) "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."
Aiming "to characterize the large deletion that causes the yellow phenotype and to describe the fawn-2/beige mutation, which we hypothesized to be due to a structural modification representing a single allele", Robic et al. (2019) "sequenced four individuals i.e. one homozygous beige, one homozygous fawn-2 and two yellow, and compared the data with the recently available Coturnix japonica 2.0 quail annotated reference genome." These authors characterised the yellow variant first described by Nadeau et al. (2008) as "a complex mutation that involves a 141,162-bp long deletion." They also reported that "For the fawn-2/beige phenotype, we identified a 71-kb tandem duplication that comprises one unchanged copy of ASIP and one copy present in the ITCH-ASIP fusion gene, which leads to a transcript coding for a normal ASIP protein."Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ASIP||agouti signaling protein||Coturnix japonica||20||NC_029535.1 (1441582..1422403)||ASIP||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Feather colour, fawn-2/beige||ASIP||Y^f2||duplication||20||Robic et al. (2019) concluded "that fawn-2 and beige are the same allele, and that it is caused by a 70,895-bp tandem duplication . . . [with breakpoints] (NC-029535 [1,371,395(or 98)–1,442,295 (or 98)]) . . . located downstream of the ITCH exon 1 and upstream of the ASIP exon e4 (5′ UTR). . . . The 70,895 bp of the duplicated region include the entire AHCY gene on one strand, and parts of the ASIP and ITCH genes on the other strand."||2019||30987584|
|Feather colour, recessive black||ASIP||rb||deletion, small (<=20)||20||c.373_380del||"A deletion of 8 bases was found in the ASIP gene"||2008||18287406|
|Feather colour, lethal yellow||ASIP||Y||deletion, gross (>20)||20||g.1463709_1604872del141162||Nadeau et al. (2008): "a >90-kb deletion upstream of ASIP"||2008||18287407||The g. coordinates were provided by Robic et al. (2019)|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2019||Robic, A., Morisson, M., Leroux, S., Gourichon, D., Vignal, A., Thebault, N., Fillon, V., Minvielle, F., Bed'Hom, B., Zerjal, T., Pitel, F. :|
|Two new structural mutations in the 5' region of the ASIP gene cause diluted feather color phenotypes in Japanese quail. Genet Sel Evol 51:12, 2019. Pubmed reference: 30987584. DOI: 10.1186/s12711-019-0458-6.|
|2013||Zhang, X.H., Pang, Y.Z., Zhao, S.J., Xu, H.W., Li, Y.L., Xu, Y., Guo, Z., Wang, D.D. :|
|The relationship of plumage colours with MC1R (Melanocortin 1 Receptor) and ASIP (Agouti Signaling Protein) in Japanese quail (Coturnix coturnix japonica). Br Poult Sci 54:306-11, 2013. Pubmed reference: 23639082. DOI: 10.1080/00071668.2013.780122.|
|2009||Minvielle, F., Cecchi, T., Passamonti, P., Gourichon, D., Renieri, C. :|
|Plumage colour mutations and melanins in the feathers of the Japanese quail: a first comparison. Anim Genet 40:971-4, 2009. Pubmed reference: 19496774. DOI: 10.1111/j.1365-2052.2009.01929.x.|
|2008||Hiragaki, T., Inoue-Murayama, M., Miwa, M., Fujiwara, A., Mizutani, M., Minvielle, F., Ito, S. :|
|Recessive black is allelic to the yellow plumage locus in Japanese quail and associated with a frameshift deletion in the ASIP gene. Genetics 178:771-5, 2008. Pubmed reference: 18287406. DOI: 10.1534/genetics.107.077040.|
|Nadeau, N.J., Minvielle, F., Ito, S., Inoue-Murayama, M., Gourichon, D., Follett, S.A., Burke, T., Mundy, N.I. :|
|Characterization of Japanese quail yellow as a genomic deletion upstream of the avian homolog of the mammalian ASIP (agouti) gene. Genetics 178:777-86, 2008. Pubmed reference: 18287407. DOI: 10.1534/genetics.107.077073.|
|Tsudzuki, M. :|
|Mutations of Japanese quail (Coturnix japonica) and recent advances of molecular genetics for this species. Journal of Poultry Science 45:159-179, 2008.|
|2007||Minvielle, F., Gourichon, D., Ito, S., Inoue-Murayama, M., Rivière, S. :|
|Effects of the dominant lethal yellow mutation on reproduction, growth, feed consumption, body temperature, and body composition of the Japanese quail. Poult Sci 86:1646-50, 2007. Pubmed reference: 17626808.|
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