OMIA:001249-9823 : Coat colour, brown, TYRP1-related in Sus scrofa |
In other species: taurine cattle , horse , dog , domestic cat , sheep , golden hamster , North American deer mouse , goat , American mink , rabbit , Mongolian gerbil , American black bear , Rhesus monkey
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 612271 (trait) , 203290 (trait) , 115501 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal incomplete dominant
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2011
Species-specific name: The coat colour is also termed "blond" or "silver" in some pig breeds.
Inheritance: The Met495_Gly496 deletion allele is dominant over the wildtype allele. Most other mutant TYRP1 alleles are recessive.
Mapping: Ren et al. (2011) mapped the locus for brown coat colour by GWAS in 61 Tibetan and 48 Kele pigs. In both breeds, significant associations were observed on chromosome 1 in a region harbouring the TYRP1 gene.
Molecular basis: Ren et al. (2011) performed Sanger sequencing of all exons of the positional candidate gene TYRP1 in pigs from different breeds and identified only one protein-changing variant that was consistently associated with brown coat colour. The variant was a 6 bp deletion predicted to remove two amino acids from the transmembrane domain of the TYRP1 protein (c.1484_1489del6; p.Met495_Gly496del).
Using the candidate gene approach, Wu et al. (2016) provided strong evidence that the previously described 6 bp deletion in TYRP1 is also the cause of the blond coat colour in Liangshan pigs.
Clinical features: Homozygous mutant pigs carrying two copies of the 6 bp deletion have a lighter coat colour than heterozygous animals (Ren et al. 2011).
Breeds: Dahe, China (Pig) (VBO_0012749), Tibetan, China (Pig) (VBO_0012856), Wujin - Kele, China (Pig) (VBO_0012864), Wujin - Liangshan, China (Pig) (VBO_0012865).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| TYRP1 | tyrosinase-related protein 1 | Sus scrofa | 1 | NC_010443.5 (209745141..209725698) | 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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 508 | Dahe, China (Pig) Tibetan, China (Pig) Wujin - Kele, China (Pig) Wujin - Liangshan, China (Pig) | Brown | TYRP1 | deletion, small (<=20) | Naturally occurring variant | Sscrofa11.1 | 1 | g.209726927_209726932del | c.1484_1489del | p.(M495_G496del) | 2011 | 20978532 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:001249-9823: 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.
| 2023 | Yuan, W., Qin, H., Bi, H., Zhao, D., Zhang, Y., Chen, W. : |
| Ssc-mir-221-3p regulates melanin production in Xiang pigs melanocytes by targeting the TYRP1 gene. BMC Genomics 24:369, 2023. Pubmed reference: 37393242 . DOI: 10.1186/s12864-023-09451-w. | |
| 2016 | Wu, X., Zhang, Y., Shen, L., Du, J., Luo, J., Liu, C., Pu, Q., Yang, R., Li, X., Bai, L., Tang, G., Zhang, S., Zhu, L. : |
| A 6-bp deletion in exon 8 and two mutations in introns of TYRP1 are associated with blond coat color in Liangshan pigs. Gene 578:132-6, 2016. Pubmed reference: 26680103 . DOI: 10.1016/j.gene.2015.12.011. | |
| 2011 | Ren, J., Mao, H., Zhang, Z., Xiao, S., Ding, N., Huang, L. : |
| A 6-bp deletion in the TYRP1 gene causes the brown colouration phenotype in Chinese indigenous pigs. Heredity 106:862-8, 2011. Pubmed reference: 20978532 . DOI: 10.1038/hdy.2010.129. |
Edit History
- Created by Frank Nicholas on 07 Sep 2011
- Changed by Frank Nicholas on 07 Sep 2011
- Changed by Frank Nicholas on 10 Sep 2011
- Changed by Frank Nicholas on 19 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Tosso Leeb on 26 Jun 2020
- Changed by Imke Tammen2 on 23 Nov 2022