OMIA:000213-74535 : Coat colour, white in Panthera tigris tigris
In other species: domestic cat , water buffalo , franciscana , sika deer
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 600201 (gene) , 606202 (gene) , 184745 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2013
Species-specific description: As noted by Xu et al. (2013), "The white tiger is not a true albino, in that although pheomelanin is largely absent, eumelanin is present in the eyes and in the hairs of stripes".
History: As reported by Xu et al. (2013) white Bengal tigers "were once observed sporadically in the wild on the Indian subcontinent, with the oldest record dating back to the 1500s [Jackson, 1988]. In 1951, a male white tiger named Mohan was captured in Rewa, now part of Madhya Pradesh in India, from which numerous white tigers were bred for captivity [ Robinson, 1969; Robinson, 1976; Thornton, 1978; Thornton et al., 1967; Maruska, 1987]."
Inheritance: Autosomal recessive inheritance was documented by Thornton et al. (1967).
Mapping: Having shown no association between the white phenotype of Bengal tigers and polymorphisms in any of the obvious candidate coat-colour genes, Xu et al. (2013) undertook a herculean effort that is very much a sign of the times, namely whole-genome sequencing three Bengal tigers (which are parents in a captive-bred family), and, from the sequence data, identifying 509,220 SNPs, each of which was aligned to the tiger reference genome. They then performed a GWAS on 7 white and 9 wild-type tigers (from the same captive-bred family), each genotyped with the identified SNPs, yielding 172,554 informative SNPs. The GWAS mapped the white locus to two adjacent scaffolds (75 and 1458). Linkage mapping within these two scaffolds highlighted a 3.3Mb candidate region, which (according to the tiger reference genome) contains 23 genes.
Molecular basis: Careful examination of the whole-genomes sequence data from the three parents of the captive-bred family segregating for the white phenotype, combined with "restriction-site-associated DNA sequencing (RAD-seq)" of the 13 offspring in the same family, enabled Xu et al. (2013) to identify a candidate mutation in each of two genes in the candidate region (see Mapping section). Genotyping of other Bengal tigers (20 white and 110 wild-type) for both mutations revealed the causal mutation to be a missense mutation, namely a "C-to-T transition in exon 7 in SLC45A2 (solute carrier family 45 member 2, also known as MATP or AIM-1), which corresponds to alanine-to-valine substitution at amino acid residue 477 (A477V)".
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC45A2||Panthera tigris tigris||-||no genomic information (-..-)||SLC45A2||Ensembl|
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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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|254||Coat colour, white||SLC45A2||missense||Naturally occurring variant||C>T||p.(A477V)||2013||23707431|
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.
|2014||Xu, X., Luo, S.J. :|
|How the white tiger lost its color, but kept its stripes. Sci China Life Sci 57:1041-3, 2014. Pubmed reference: 25323677 . DOI: 10.1007/s11427-014-4697-z.|
|2013||Xu, X., Dong, G.X., Hu, X.S., Miao, L., Zhang, X.L., Zhang, D.L., Yang, H.D., Zhang, T.Y., Zou, Z.T., Zhang, T.T., Zhuang, Y., Bhak, J., Cho, Y.S., Dai, W.T., Jiang, T.J., Xie, C., Li, R., Luo, S.J. :|
|The genetic basis of white tigers. Curr Biol 23:1031-5, 2013. Pubmed reference: 23707431 . DOI: 10.1016/j.cub.2013.04.054.|
|1988||Jackson, P. :|
|Earliest record of a white tiger. Cat News 8:6-7, 1988.|
|1987||Maruska, E.J. :|
|White tiger: Phantom or freak? In R.L. Tilson, U.S. Seal (Eds.), Tigers of the World: The Biology, Biopolitics, Management, and Conservation of an Endangered Species (First Edition), Noyes Publications, Park Ridge :372-379, 1987.|
|1978||Thornton, I.W.B. :|
|White tiger genetics—further evidence. Journal of Zoology 185:389-394, 1978.|
|1977||Sankhala, K. :|
|Tiger! The Story of the Indian Tiger. Simon & Schuster, New York :, 1977.|
|1976||Robinson, R. :|
|Homologous genetic variation in the Felidae. Genetica 46:1-31, 1976.|
|1973||Guillery, RW., Kaas, JH. :|
|Genetic abnormality of the visual pathways in a "white" tiger. Science 180:1287-9, 1973. Pubmed reference: 4707916 .|
|1969||Robinson, R. :|
|The white tigers of Rewa and gene homology in the Felidae. Genetica 40:198-200, 1969. Pubmed reference: 5806538 .|
|1967||Thornton, I.W.B., Yeung, K.K., Sankhala, K.S. :|
|The genetics of the white tigers of Rewa Journal of Zoology 152:127-135, 1967.|
- Created by Frank Nicholas on 08 Jun 2013
- Changed by Frank Nicholas on 08 Jun 2013