OMIA 001249-9823 : Coat colour, brown, TYRP1-related in Sus scrofa
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: Chinese-Tibetan, Dahe, Kele, Liangshan. 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|
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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||Chinese-Tibetan Dahe Kele Liangshan||Brown||TYRP1||deletion, small (<=20)||Naturally occurring variant||Sscrofa11.1||1||g.209726927_209726932del||c.1484_1489del||p.(M495_G496del)||2011||20978532|
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.
|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.|
- Created by Frank Nicholas on 07 Sep 2011
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