OMIA 001216-9913 : Coat colour, roan in Bos taurus |
In other species:
horse
,
pig
Possibly relevant human trait(s) and/or gene(s) (MIM number):
184745
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.
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Belgian Blue Shorthorn | Roan | KITLG | missense | UMD3.1 | 5 | g.18339001 | 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 |
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.
| 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