OMIA:001445-9135 : Feather colour, dilution, MLPH-related in Serinus canaria (common canary)
Categories: Pigmentation phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2023
Cross-species summary: Known as lavender feather colour
Species-specific description: Bovo et al. (2023): "exploited whole genome sequencing (WGS) datasets produced from five canary lines or populations (Black Frosted Yellow, Opal, Onyx, Opal × Onyx and Mogno, some of which carrying different putative dilute alleles), complemented with other WGS datasets retrieved from previous studies, to identify candidate genes that might explain pigmentation variability across canary breeds and varieties. ... We identified signatures of selection in genomic regions harbouring genes involved in carotenoid-derived pigmentation variants (CYP2J19, EDC, BCO2 and SCARB1), confirming the results reported by previous works, and identified several other signatures of selection in the correspondence of melanogenesis-related genes (AGRP, ASIP, DCT, EDNRB, KITLG, MITF, MLPH, SLC45A2, TYRP1 and ZEB2). Two putative causative mutations were identified in the MLPH gene that may explain the Opal and Onyx dilute mutant alleles."
Molecular basis: Bovo et al. (2023): "By investigating the MLPH gene sequence from the generated whole genome sequencing datasets, we identified two putative causative mutations of the dilute canary variants. A missense mutation (NW_022042652.1:g.66497548C>T; ... ), causing the p.R111K substitution at the protein level (XM_009088195.3; XP_009086443.1), was fixed in the Onyx canaries and had an estimated frequency of 0.58 in the Opal × Onyx DNA pool ... , close to the expected frequency of 50% based on fact that the crossbred canaries might have received a copy of the mutated allele from the Onyx parent and a wild-type form at this position from the other parental variety. ... The second mutation was a deletion of seven nucleotides (NW_022042652.1:g.66493407_66493413del; ...), causing a frameshift of the reading frame and then the constitution of a premature stop codon that truncates the 676 residue wild-type protein at residue 236 (p.A237fs; XP_009086443.1). This deletion was fixed in both Opal and Mogno canaries. Again, in the Opal × Onyx DNA pool, its frequency was close to the expected 1:1 ratio of the two parental alleles ... . This is again consistent with the fact that Opal and Onix carried two different MLPH alleles. As Opal and Mogno canaries carried the same allele at the MLPH gene, their phenotypic differences might be due to other modifier loci."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MLPH||melanophilin||Serinus canaria||NW_026108147.1 (3101930..3076890)||MLPH||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.
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|
|1561||Feather colour, Opal / Mogno||MLPH||deletion, small (<=20)||Naturally occurring variant||NW_022042652.1||g.66493407_66493413del||p.(A237fs)||XP_009086443.1||2023||37194440|
|1560||Feather colour, Onyx||MLPH||missense||Naturally occurring variant||NW_022042652.1||g.66497548C>T||p.(R111K)||XM_009088195.3; XP_009086443.1||2023||37194440|
Cite this entry
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.
|2023||Bovo, S., Ribani, A., Utzeri, V.J., Taurisano, V., Bertarini, G., Fontanesi, L. :|
|Whole genome sequencing identifies candidate genes and mutations that can explain diluted and other colour varieties of domestic canaries (Serinus canaria). Anim Genet 54:510-525, 2023. Pubmed reference: 37194440 . DOI: 10.1111/age.13331.|
|2008||Perez-Beato, O. :|
|Fundamentals of color genetics in canaries. RoseDog Books. Pittsburgh, Pennsylvania, USA: :, 2008.|
- Created by Imke Tammen2 on 18 May 2023
- Changed by Imke Tammen2 on 18 May 2023