OMIA 002431-9694 : Coat colour, pseudomelanistic in Panthera tigris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 610046 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2021

Species-specific description: Sagar et al. (2021) described pseudomelanism as "A rare pattern variant, distinguished by pattern elements that are broadened and fused together, has also been observed in natural and captive tiger populations. Such tigers are sometimes called black tigers . . . , but the melanistic appearance is a consequence of expanded pattern elements rather than a uniformly darkened color".

Inheritance: Sagar et al. (2021): "Pseudomelanism in tigers is inherited as an autosomal recessive trait as predicted from the captive pseudomelanistic tigers' pedigree".

Molecular basis: Sagar et al. (2021): "Whole-genome data and pedigree-based association analyses from captive tigers revealed that pseudomelanism cosegregates with a conserved and functionally important coding alteration [p.H454Y] in Transmembrane Aminopeptidase Q (Taqpep), a gene responsible for similar traits in other felid species."

Prevalence: Sagar et al. (2021): "Noninvasive sampling of tigers revealed a high frequency of the Taqpep p.H454Y mutation in Similipal (12 individuals, allele frequency = 0.58) and absence from all other tiger populations (395 individuals). . . . Simulations were consistent with founding events and drift as possible drivers for the observed stark difference of allele frequency."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
Taqpep Panthera tigris - no genomic information (-..-) Taqpep 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.

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
1348 Pseudomelamism Taqpep missense Naturally occurring variant PanTig1.0 A1 c.1360C>T p.H454Y Sagar et al. (2021): "[Assembly PanTig1.0(GCF_000464555.1)]. . . . (Taqpep c.1360C > T); XP_007086933.1) of the protein (Taqpep p.H454Y)" 2021 34518374

Reference


2021 Sagar, V., Kaelin, C.B., Natesh, M., Reddy, P.A., Mohapatra, R.K., Chhattani, H., Thatte, P., Vaidyanathan, S., Biswas, S., Bhatt, S., Paul, S., Jhala, Y.V., Verma, M.M., Pandav, B., Mondol, S., Barsh, G.S., Swain, D., Ramakrishnan, U. :
High frequency of an otherwise rare phenotype in a small and isolated tiger population. Proc Natl Acad Sci U S A 118:, 2021. Pubmed reference: 34518374. DOI: 10.1073/pnas.2025273118.

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  • Created by Frank Nicholas on 22 Sep 2021