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)

Single-gene 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

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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