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."
|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|
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|
|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|
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.|
- Created by Imke Tammen2 on 10 Nov 2022
- Changed by Imke Tammen2 on 10 Nov 2022