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

In other species: cattle , horse , dog , goat

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 184745 (gene) , 611664 (trait)

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

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.

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

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 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.

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