OMIA 001216-9823 : Coat colour, roan in Sus scrofa

In other species: horse , cattle

Possibly relevant human trait(s) and/or gene(s) (MIM number): 184745

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2011

Molecular basis: Hadjiconstantouras et al. (2008) could not find any substantial association between polymorphisms at this locus and coat colour in Meishan x Large White cross. Lim et al. (2011) provided convincing evidence that whole-body roan is due to a U(26) repeat in intron 5 of the KIT gene, which is likely to mediate skipping of exon 5 of the gene in some tissues including skin, resulting in the roan phenotype.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog Sus scrofa 8 NC_010450.4 (41402334..41492306) KIT Homologene, Ensembl, NCBI gene

Variants

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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
Coat colour, roan KIT splicing a U(26) repeat in intron 5 of the KIT gene, which is likely to mediate skipping of exon 5 of the gene in some tissues including skin 2011 21749430

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.
2011 Lim, HT., Zhong, T., Cho, IC., Seo, BY., Kim, JH., Lee, SS., Ko, MS., Park, HB., Kim, BW., Lee, JH., Jeon, JT. :
Novel alternative splicing by exon skipping in KIT associated with whole-body roan in an intercrossed population of Landrace and Korean Native pigs. Anim Genet 42:451-5, 2011. Pubmed reference: 21749430. DOI: 10.1111/j.1365-2052.2011.02225.x.
2008 Hadjiconstantouras, C., Sargent, CA., Skinner, TM., Archibald, AL., Haley, CS., Plastow, GS. :
Characterization of the porcine KIT ligand gene: expression analysis, genomic structure, polymorphism detection and association with coat colour traits. Anim Genet 39:217-24, 2008. Pubmed reference: 18318788. DOI: 10.1111/j.1365-2052.2008.01708.x.

Edit History


  • Created by Frank Nicholas on 15 Jul 2011
  • Changed by Frank Nicholas on 08 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011