OMIA 002277-64176 : Skin colour, orange/red in Podarcis muralis |
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
612716 (trait)
,
182125 (gene)
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
no
Key variant known:
no
Inheritance:
Andrade et al. (2019): "in 56 of 57 cases, orange and mosaic individuals were homozygous for one allele (hereafter o) at the SPR locus, whereas yellow and white individuals, with one exception, were either heterozygous (n = 41) or homozygous (n = 16) for the alternative allele (hereafter O): a highly significant association (recessive model, P = 9.3 × 10−29)."
Molecular basis:
Andrade et al. (2019): "The signal of association for orange coloration was restricted to a noncoding region immediately upstream of SPR"
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
SPR | Podarcis muralis | - | no genomic information (-..-) | SPR | 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