OMIA 001199-9838 : Coat colour, extension in Camelus dromedarius
Alshanbari et al. (2019) reported that "heterozygosity for . . . [the] missense mutation c.901C > T in MC1R is sufficient for the white coat color suggesting a possible dominant negative effect."Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MC1R||melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)||Camelus dromedarius||21||NC_044531.1 (30985552..30990919)||MC1R||Homologene, Ensembl, NCBI gene|
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.
|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|
|White coat colour||MC1R||missense||c.901C>T||p.(R301C)||KU179867; c.901C>T; p.R301C||2018||29893870|
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.
|2019||Alshanbari, F., Castaneda, C., Juras, R., Hillhouse, A., Mendoza, M.N., Gutiérrez, G.A., Ponce de León, F.A., Raudsepp, T. :|
|Comparative FISH-Mapping of <i>MC1R</i>, <i>ASIP</i>, and <i>TYRP1</i> in New and Old World Camelids and Association Analysis With Coat Color Phenotypes in the Dromedary (<i>Camelus dromedarius</i>). Front Genet 10:340, 2019. Pubmed reference: 31040864. DOI: 10.3389/fgene.2019.00340.|
|2018||Almathen, F., Elbir, H., Bahbahani, H., Mwacharo, J., Hanotte, O., Almathen, F., Elbir, H., Bahbahani, H., Mwacharo, J., Hanotte, O. :|
|Polymorphisms in MC1R and ASIP Genes are Associated with Coat Color Variation in the Arabian Camel. J Hered 109:700-706, 2018. Pubmed reference: 29893870. DOI: 10.1093/jhered/esy024.|
- Created by Frank Nicholas on 28 Aug 2018
- Changed by Frank Nicholas on 05 Jun 2019