OMIA:000370-232645 : Feather colour, SLC45A2-related in Psittacula cyanocephala (Plum-headed parakeet)

In other species: chicken , turkey , Rose-ringed parakeet , Japanese quail , Alexandrine parakeet

Categories: Pigmentation phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 606574 (trait) , 227240 (trait) , 606202 (gene)

Links to MONDO diseases:

Mendelian trait/disorder: yes

Mode of inheritance: Z-linked

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2023

Cross-species summary: Renamed from 'Feather colour, albinism, sex-linked, imperfect' to 'Feather colour, SLC45A2-related' [14/11/2023]

Species-specific name: lutino, ino, sex-linked yellow

Molecular basis: Ghosh Roy et al. (2023) "sequenced the whole genomes of one green and two yellow mutants of P. krameri [rose-ringed parakeet]. ... . The coding sequence of the [Z chromosome located] candidate genes [AGRP, TYRP1 and SLC45A2] ... were screened for protein-coding changes. ... No protein-coding changes were found in AGRP or TYRP1." The authors found two non-synonymous polymorphisms associated with yellow feathers in the third candidate gene in the analysis of the whole genome data. Sanger sequencing of the SLC45A2 gene in additional P. krameri, P. eupatria and P. cyanocephala birds confirmed these two variants and identified additional variants associated with albino and the sex-linked yellow phenotype. The results are summarised below (number of birds with each variant in brackets behind the variant):

Rose-ringed (Psittacula krameria):

2 wildtype green specimens: no variants

2 albino specimens: c.1195G>A, p.(G399R) (n=1) and c.1400G>T, p.(G467V) (n=1)

12 yellow specimens: c.158C>T, p.(P53L) (n=6); c.1195G>A, p.(G399R) (n=5) and c.1400G>T, p.(G467V) (n=1)

Alexandrine (Psittacula eupatria):

2 wildtype green specimens: no variants

10 yellow specimens: c.539T>C; p.(L180P) (n=6) and c.1195G>A, p.(G399R) (n=4)

Plum-headed (Psittacula cyanocephala):

2 wildtype green specimens: no variants

5 yellow specimens: c.73G>T; p.(R25*) (n=5)

The authors investigated the effect of the four non-synonymous variants (P53L, L180P, G399R and G467V) on cellular localization in Hela cells: "All the mutations exhibited an altered pattern of localization except G467V ... . [The] data suggests that parrots carrying yellow phenotype lose their blue structural color due to defective expression of SLC45A2 in the melanocytes, that results in absence of melanin granules in the spongy medullary structure of the feather barb." Future research may be considered to support the causality of the G467V variant and to explain the variation in phenotype (albino or yellow) in the rose-ringed parakeet.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SLC45A2 Psittacula cyanocephala - no genomic information (-..-) SLC45A2 Ensembl

Variants

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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
1639 Feather colour, yellow SLC45A2 nonsense (stop-gain) Naturally occurring variant c.73G>T p.(R25*) 2023 37943814

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000370-232645: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2023 Ghosh Roy, S., Bakhrat, A., Abdu, M., Afonso, S., Pereira, P., Carneiro, M., Abdu, U. :
Mutations in SLC45A2 leads to loss of melanin in parrot feathers. G3 (Bethesda) , 2023. Pubmed reference: 37943814. DOI: 10.1093/g3journal/jkad254.

Edit History


  • Created by Imke Tammen2 on 14 Nov 2023
  • Changed by Imke Tammen2 on 14 Nov 2023