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OMIA 001216-9913 : Coat colour, roan in Bos taurus

In other species: dog , horse , pig , 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 Semi-Dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 1999

Species-specific symbol: MGF, KL

Mapping: Conducting a genome scan involving 312 microsatellite markers compiled from three published bovine linkage maps (Barendse et al. 1994, Nature Genet. 6, 227-235; Bishop et al. 1994, Genetics 136:619-639; Georges et al. 1995, Genetics 139:907-20), Charlier et al. (1996) mapped the roan gene to the centromeric end of chromosome BTA5, "in the interval between BP1 and AGLA293, at 3.7 cM from the former and with an associated lodscore of 11.2." (Mohammad Shariflou 10/11/2006; FN 15/9/2012). Charlier et al. (1996) were quick to notice that this region of the bovine genome shows conserved synteny with a region on human chromosome HSA12 and on mouse chromosome MMU10, which contains the Steel locus, mutations in which affect coat colour in mice. The Steel locus, which encodes mast cell growth factor, was thus an obvious comparative positional candidate gene for roan in cattle.

Molecular basis: By cloning and sequencing a very likely comparative positional candidate gene (see the Genetic mapping section above), Seitz et al. (1999) reported that a missense mutation at 654 bp (amino acid 193, Ala>Asp) in the mast cell growth factor (MGF) locus is responsible for the roan phenotype in Belgian Blue and Shorthorn cattle (Mohammad Shariflou. The MGF gene is now called KITLG (10/11/2006; FN 15/9/2012)

Genetic testing: A PCR-RFLP was reported by Seitz et al. (1999).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
KITLG KIT ligand Bos taurus 5 NC_037332.1 (18311647..18251955) KITLG 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
186 Belgian Blue Shorthorn Roan KITLG missense Naturally occurring variant ARS-UCD1.2 5 g.18273206G>T c.572C>A p.(A191N) 1999 10384045 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
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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.
2021 Derks, M.F.L., Steensma, M. :
Review: Balancing selection for deleterious alleles in livestock. Front Genet 12:761728, 2021. Pubmed reference: 34925454. DOI: 10.3389/fgene.2021.761728.
2000 Aasland, M., Klungland, H., Lien, S. :
Two polymorphisms in the bovine mast cell growth factor gene (MGF). Anim Genet 31:345, 2000. Pubmed reference: 11105228.
1999 Seitz, J.J., Schmutz, S.M., Thue, T.D., Buchanan, F.C. :
A missense mutation in the bovine MGF gene is associated with the roan phenotype in Belgian Blue and Shorthorn cattle Mammalian Genome 10:710-712, 1999. Pubmed reference: 10384045.
1996 Charlier, C., Denys, B., Belanche, J.I., Coppieters, W., Grobet, L., Mni, M., Womack, J., Hanset, R., Georges, M. :
Microsatellite mapping of the bovine roan locus - a major determinant of white heifer disease Mammalian Genome 7:138-142, 1996. Pubmed reference: 8835531.
1947 Jones, I.C. :
The inheritance of red, roan and white coat colour in dairy shorthorn cattle. J Genet 48:155-63, 1947. Pubmed reference: 20266729.
1909 Bateson, W. :
Mendel’s Principles of Heredity. Cambridge University Press, London :, 1909.

Edit History


  • Created by Mohammad Shariflou on 10 Nov 2006
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 15 Sep 2012