OMIA 001602-93934 : Feather colour, yellow in Coturnix japonica

In other species:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2008

Species-specific symbol: Y

Inheritance: "An allelic series of variants at the autosomal yellow (Y) locus, which involves the ASIP gene on quail chromosome 20, has been identified in Japanese quail (Coturnix japonica): recessive black and yellow alleles, three alleles (fawn, fawn-2 and beige) that result in three similar phenotypes and the wild-type allele (WT)" Robic et al. (2019), citing Tsudzuki (2008)

Molecular basis: Hiraqaki et al. (2008) reported "deletion of 8 bases was found in the ASIP gene in the Y*RB [recessive black] allele, causing a frameshift that changed the last six amino acids, including a cysteine residue, and removed the normal stop codon."

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 (1441496..1422403) ASIP Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.1,463,709_1,604,872del141,162 Nadeau et al. (2008): "a >90-kb deletion upstream of ASIP" 2008 18287407 The g. coordinates were provided by Robic et al. (2019)

References


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.

Edit History


  • Created by Frank Nicholas on 12 Sep 2011
  • Changed by Frank Nicholas on 12 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 21 Mar 2012
  • Changed by Frank Nicholas on 25 Apr 2019
  • Changed by Frank Nicholas on 30 May 2019