OMIA:002431-9694 : Coat colour, pseudomelanistic in Panthera tigris (tiger) |
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 610046 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: 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." The gene name "Taqpep" has been replaced by laeverin with symbol LVRN.
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 |
|---|---|---|---|---|---|---|
| LVRN | laeverin | Panthera tigris | A1 | NC_056660.1 (94143440..94221513) | LVRN | Homologene, Ensembl , NCBI gene |
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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1348 | Pseudomelamism | LVRN | 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 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002431-9694: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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:e2025273118, 2021. Pubmed reference: 34518374. DOI: 10.1073/pnas.2025273118. |
Edit History
- Created by Frank Nicholas on 22 Sep 2021
- Changed by Imke Tammen2 on 28 Feb 2024