OMIA 002191-93934 : Feather colour, dilution, PMEL-related in Coturnix japonica

Possibly relevant human trait(s) and/or gene(s) (MIM number): 155550 (gene)

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2018

Species-specific description: Ishishita et al. (2018): "The L strain of Japanese quail exhibits a plumage phenotype that is light yellowish in colour."

Inheritance: Ishishita et al. (2018): "The yellowish plumage was inherited in an autosomal recessive manner".

Mapping: Ishishita et al. (2018) mapped the yellowish locus to "an 810-kb genomic region of the LGE22C19W28_E50C23 linkage group (LGE22). This region contained the PMEL gene that is required for the normal melanosome morphogenesis and eumelanin deposition."

Molecular basis: Ishishita et al. (2018) "identified a nonsense mutation [g.811370G>A (NC_029544.1); Trp149*] in the premelanosome protein (PMEL) gene showing complete concordance with the yellowish plumage within a pedigree as well as across strains by genetic linkage analysis of an F2 intercross population"

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PMEL premelanosome protein Coturnix japonica LGE22C19W28_E50C23 NC_029544.1 (812625..807870) PMEL 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.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1071 Yellowish plumage PMEL nonsense (stop-gain) Naturally occurring variant g.811370G>A p.(W149*) Ishishita et al. (2018): g.811370G>A (NC_029544.1); Trp149* 2018 30425278

Reference


2018 Ishishita, S., Takahashi, M., Yamaguchi, K., Kinoshita, K., Nakano, M., Nunome, M., Kitahara, S., Tatsumoto, S., Go, Y., Shigenobu, S., Matsuda, Y. :
Nonsense mutation in PMEL is associated with yellowish plumage colour phenotype in Japanese quail. Sci Rep 8:16732, 2018. Pubmed reference: 30425278. DOI: 10.1038/s41598-018-34827-4.

Edit History


  • Created by Frank Nicholas on 18 Apr 2019
  • Changed by Frank Nicholas on 02 Mar 2020