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OMIA 001249-9823 : Coat colour, brown, TYRP1-related in Sus scrofa

In other species: cattle , horse , dog , domestic cat , sheep , golden hamster , North American deer mouse , goat , American mink , rabbit , Mongolian gerbil

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 612271 , 203290 , 115501

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Semi-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: 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

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.

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
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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.
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