OMIA 002589-8839 : Eggshell colour, ABCG2-related in Anas platyrhynchos

Category: Pigmentation phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 603756 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2020

Mapping: Liu et al. (2021) used genome-wide association analysis and identity by descent to finely map green egg colour to a 179-kb region of Chr4 based on the resequencing of 352 ducks (Anas platyrhynchos) from a segregating population resulting from the mating of Pekin ducks (white-shelled eggs) and mallards (green-shelled eggs). We further narrowed the candidate region to a 30-kb interval ... . Among the genes located in the finely mapped region, only one transcript of the ABCG2 gene (XM_013093252.2) exhibited higher uterine expression in green-shelled individuals than in white-shelled individuals, as supported by transcriptome data from four populations. ABCG2 has been reported to encode a protein that functions as a membrane transporter for biliverdin. Sanger sequencing of the whole 30-kb candidate region (Chr4: 47.41-47.44 Mb) and a plasmid reporter assay helped to identify a single nucleotide polymorphism (Chr4: 47,418,074 G>A) located in a conserved predicted promoter region whose variation may alter ABCG2 transcription activity."

Molecular basis: Chen et al. (2020) "report that the blue eggshell color of the domestic duck is caused by two cis-regulatory G to A transitions upstream of ABCG2, which encodes an efflux transporter."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) Anas platyrhynchos 4 NC_051775.1 (45315406..45294580) ABCG2 Homologene, Ensembl, NCBI gene

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
1499 Blue eggshell ABCG2 regulatory Naturally occurring variant BGI_duck1.0 NW_004676534.1 g.[3573054A>G;3573085A>G] The BGI_duck1.0 reference genome represents the blue eggshell genotype. 2020 33186356

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. > > > >
2021 Liu, H., Hu, J., Guo, Z., Fan, W., Xu, Y., Liang, S., Liu, D., Zhang, Y., Xie, M., Tang, J., Huang, W., Zhang, Q., Xi, Y., Li, Y., Wang, L., Ma, S., Jiang, Y., Feng, Y., Wu, Y., Cao, J., Zhou, Z., Hou, S. :
A single nucleotide polymorphism variant located in the cis-regulatory region of the ABCG2 gene is associated with mallard egg colour. Mol Ecol 30:1477-91, 2021. Pubmed reference: 33372351. DOI: 10.1111/mec.15785.
2020 Chen, L., Gu, X., Huang, X., Liu, R., Li, J., Hu, Y., Li, G., Zeng, T., Tian, Y., Hu, X., Lu, L., Li, N. :
Two cis-regulatory SNPs upstream of ABCG2 synergistically cause the blue eggshell phenotype in the duck. PLoS Genet 16:e1009119, 2020. Pubmed reference: 33186356. DOI: 10.1371/journal.pgen.1009119.
2019 Bai, D.P., Lin, X.Y., Wu, Y., Zhou, S.Y., Huang, Z.B., Huang, Y.F., Li, A., Huang, X.H. :
Isolation of blue-green eggshell pigmentation-related genes from Putian duck through RNA-seq. BMC Genomics 20:66, 2019. Pubmed reference: 30660177. DOI: 10.1186/s12864-019-5436-4.
1991 Lai, Y.Z., Zhang, S.Z. :
Genetic analysis of duck eggshell color. Hereditas 13:4-5, 1991.

Edit History


  • Created by Imke Tammen2 on 10 Nov 2022
  • Changed by Imke Tammen2 on 10 Nov 2022