OMIA 000202-9689 : Coat colour, albinism in Panthera leo

In other species: goldfish , grass carp , rainbow trout , Japanese medaka , axolotl , African clawed frog , dark-spotted frog , Japanese wrinkled frog , Tufted capuchin , grivet , Bornean orangutan , dog , American black bear , brown bear , raccoon , domestic ferret , domestic cat , Sumatran tiger , humpback whale , ass , pig , hippopotamus , cattle , sheep , hares , rabbit , golden hamster , North American deer mouse , meadow voles , domestic guinea pig , nutria , gray short-tailed opossum , northern pocket gopher , Arizona pocket mouse , rufous rat-kangaroo , turkey vulture , eastern chipmunk , Campbell's desert hamster , water buffalo , western chorus frog , American mink , Rice frog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 203100

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2013

Cross-species summary: Congenital lack of pigment in all parts of the body. Due to a non-functional form of the enzyme tyrosinase. Also known as Oculocutaneous albinism (OCA)

Molecular basis: Cho et al. (2013) reported c.260G>A (p.Arg87Gln) as a likely causal variant for the "white lion" phenotype, reporting complete concordance of this variant with the genotyping results from "47 lions: 17 of white phenotype and 30 of wild phenotype, of which 11 were known to be carriers (heterozygotes) based on their pedigree, 14 of unknown genetic makeup, and 5 of wild phenotype from control populations where no white lions were found". FN thanks Corinne Benavides for alerting him to this discovery.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYR Panthera leo - no genomic information (-..-) TYR Ensembl

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
White lion TYR missense c.260G>A p.Arg87Gln 2013 24045858

Reference


2013 Cho, Y.S., Hu, L., Hou, H., Lee, H., Xu, J., Kwon, S., Oh, S., Kim, H.M., Jho, S., Kim, S., Shin, Y.A., Kim, B.C., Kim, H., Kim, C.U., Luo, S.J., Johnson, W.E., Koepfli, K.P., Schmidt-K√ľntzel, A., Turner, J.A., Marker, L., Harper, C., Miller, S.M., Jacobs, W., Bertola, L.D., Kim, T.H., Lee, S., Zhou, Q., Jung, H.J., Xu, X., Gadhvi, P., Xu, P., Xiong, Y., Luo, Y., Pan, S., Gou, C., Chu, X., Zhang, J., Liu, S., He, J., Chen, Y., Yang, L., Yang, Y., He, J., Liu, S., Wang, J., Kim, C.H., Kwak, H., Kim, J.S., Hwang, S., Ko, J., Kim, C.B., Kim, S., Bayarlkhagva, D., Paek, W.K., Kim, S.J., O'Brien, S.J., Wang, J., Bhak, J. :
The tiger genome and comparative analysis with lion and snow leopard genomes. Nat Commun 4:2433, 2013. Pubmed reference: 24045858. DOI: 10.1038/ncomms3433.

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  • Created by Frank Nicholas on 06 Sep 2018
  • Changed by Frank Nicholas on 06 Sep 2018