OMIA:001249-9691 : Coat colour, brown, TYRP1-related in Panthera pardus (leopard) |
In other species: Rhesus monkey , dog , American black bear , domestic cat , horse , pig , taurine cattle , goat , sheep , rabbit , golden hamster , North American deer mouse , Mongolian gerbil , American mink
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 612271 (trait) , 203290 (trait) , 115501 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: no
Key variant known: yes
Year key variant first reported: 2022
Species-specific name: Strawberry, red, pink, or golden leopards
Molecular basis: Tensen et al. (2022): "we sequenced exons of six coat colour-associated genes [MC1R,ASIP,TYR,TYRP1,SLC45A2 or CORIN] and 20 microsatellite loci in twenty Wild-type and four red leopards. The results were combined with demographic data available from our study sites. We found that red leopards own a haplotype in homozygosity identified by two SNPs and a 1 bp deletion that causes a frameshift in the tyrosinase-related protein 1 (TYRP1)... ."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| TYRP1 | tyrosinase related protein 1 | Panthera pardus | NW_026526766.1 (37906523..37927005) | TYRP1 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1713 | Coat colour, red | TYRP1 | deletion, small (<=20) | Naturally occurring variant | XM_019415513:c.369del | XP_019271058:p.(G63Afs*6) | 2022 | 35782007 |
Clinical synopsis/links to phenotypes
| Variant | Phenotype(s) | References (Pubmed ID) |
|---|---|---|
| 1713 |
MP:0002075: abnormal coat / hair pigmentation
HP:0002297: red hair |
35782007 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001249-9691: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
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.
| 2024 | Searle, C.E., Strampelli, P., Parsais, S.N., Haule, L.J., Olesyapa, K.K., Salum, N.D., Hape, G., Elisa, M., Mathayo, D., Kaduma, J., Malulu, N., Mkaka, N., Robert, J., Ikanda, D., Mtoka, S., Doody, K., Lobora, A.L., Dickman, A.J. : |
| New record of strawberry leopard (Panthera pardus) in Selous Game Reserve, Tanzania. Ecol Evol 14:e11542, 2024. Pubmed reference: 38979004. DOI: 10.1002/ece3.11542. | |
| 2022 | Tensen, L., Power, J., Camacho, G., Godinho, R., Jansen van Vuuren, B., Fischer, K. : |
| Molecular tracking and prevalence of the red colour morph restricted to a harvested leopard population in South Africa. Evol Appl 15:1028-1041, 2022. Pubmed reference: 35782007. DOI: 10.1111/eva.13423. |
Edit History
- Created by Imke Tammen2 on 19 Aug 2024
- Changed by Imke Tammen2 on 19 Aug 2024