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

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

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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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.

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