OMIA 002277-64176 : Skin colour, orange/red in Podarcis muralis

Possibly relevant human trait(s) and/or gene(s) (MIM number): 612716

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

Reference


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