OMIA:002191-93934 : Feather colour, dilution, PMEL-related in Coturnix japonica
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 155550 (gene)
Links to MONDO diseases: No links.
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"
|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|
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
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|
|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.|
- Created by Frank Nicholas on 18 Apr 2019
- Changed by Frank Nicholas on 02 Mar 2020