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|
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.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Chinese-Tibetan Dahe Kele Liangshan||Brown||TYRP1||deletion, small (<=20)||Sscrofa11.1||1||g.209726927_209726932delACCCAT||c.1484_1489del6||p.Met495_Gly496del||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.|
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