OMIA 001362-9823 : Coat colour, blond in Sus scrofa

In other species: meadow voles

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: unknown

Key variant known: yes

Year key variant first reported: 2015

Molecular basis: Using the candidate gene approach, Wu et al. (2016; first published online in 2015) provided strong evidence that a 6bp deletion in TYRP1 (g.17599_17604del; p.M495_G496del) is the cause of the blond coat colour in Liangshan pigs.

Breed: 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

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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.

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
Blond TYRP1 deletion, small (<=20) g.17599_17604del p.M495_G496del 2016 26680103

Reference


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.

Edit History


  • Created by Frank Nicholas on 30 Dec 2015
  • Changed by Frank Nicholas on 30 Dec 2015
  • Changed by Frank Nicholas on 02 Jun 2016