OMIA 002276-64176 : Skin colour, yellow in Podarcis muralis |
Possibly relevant human trait(s) and/or gene(s) (MIM number):
611740 (gene)
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
no
Key variant known:
no
Inheritance:
Andrade et al. (2019):"The association at the BCO2 locus was also highly significant (recessive model, P = 1.2 × 10−15), with most individuals displaying yellow coloration (yellow and orangeyellow) being homozygous (27 of 28 individuals) for one allele (hereafter y) and 34 of 36 individuals displaying white coloration (white and orange-white) being heterozygous (n = 21) or homozygous (n = 13) for the alternative allele (hereafter Y)."
Molecular basis:
Andrade et al. (2019): "The association for yellow coloration in BCO2 was strong both upstream and overlapping part of the coding region . . . ; however, we found no mutations strongly associated with yellow coloration that could alter the protein structure of BCO2 (nonsynonymous, stop, splicing, or frameshift). We thus hypothesized that the pigmentation differences are controlled by regulatory sequence variation."
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
BCO2 | Podarcis muralis | - | no genomic information (-..-) | BCO2 | Ensembl |
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 | Andrade, P., Carneiro, M. : | |
Pterin-based pigmentation in animals. Biol Lett 17:20210221, 2021. Pubmed reference: 34403644. DOI: 10.1098/rsbl.2021.0221. | ||
2019 | Andrade, P., Pinho, C., Pérez I de Lanuza, G., Afonso, S., Brejcha, J., Rubin, C.J., Wallerman, O., Pereira, P., Sabatino, S.J., Bellati, A., Pellitteri-Rosa, D., Bosakova, Z., Bunikis, I., Carretero, M.A., Feiner, N., Marsik, P., Paupério, F., Salvi, D., Soler, L., While, G.M., Uller, T., Font, E., Andersson, L., Carneiro, M. : | |
Regulatory changes in pterin and carotenoid genes underlie balanced color polymorphisms in the wall lizard. Proc Natl Acad Sci U S A 116:5633-5642, 2019. Pubmed reference: 30819892. DOI: 10.1073/pnas.1820320116. |
Edit History
- Created by Frank Nicholas on 17 Jun 2020
- Changed by Frank Nicholas on 17 Jun 2020