OMIA:001216-9823 : Coat colour, roan in Sus scrofa (pig)
Categories: Pigmentation phene
Links to MONDO diseases: No links.
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.
|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|
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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|
|391||Coat colour, roan||KIT||splicing||Naturally occurring variant||8||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|
Cite this entry
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.
|2022||Voß, K., Blaj, I., Tetens, J.L., Thaller, G., Becker, D. :|
|Roan coat color in livestock. Anim Genet 53:549-556, 2022. Pubmed reference: 35811453 . DOI: 10.1111/age.13240.|
|2011||Cho, IC., Zhong, T., Seo, BY., Jung, EJ., Yoo, CK., Kim, JH., Lee, JB., Lim, HT., Kim, BW., Lee, JH., Ko, MS., Jeon, JT. :|
|Whole-genome association study for the roan coat color in an intercrossed pig population between Landrace and Korean native pig. Genes Genom 33:17–23, 2011. DOI: https://doi.org/10.1007/s13258-010-0108-4.|
|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.|
|2010||Fontanesi, L., D'Alessandro, E., Scotti, E., Liotta, L., Crovetti, A., Chiofalo, V., Russo, V. :|
|Genetic heterogeneity and selection signature at the KIT gene in pigs showing different coat colours and patterns. Anim Genet 41:478-92, 2010. Pubmed reference: 20477793 . DOI: 10.1111/j.1365-2052.2010.02054.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.|
- Created by Frank Nicholas on 15 Jul 2011
- Changed by Frank Nicholas on 08 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011