OMIA 000031-9986 : Coat colour, dilution, MLPH-related in Oryctolagus cuniculus
Adopting a comparative candidate gene strategy, Fontanesi et al. (2014) sequenced the rabbit MLPH gene and identified the same likely causal mutation mentioned by Lehner et al. (2013), namely "a deletion of one nucleotide in exon 5 (g.549853delG) that causes a shift in the reading frame that determines a completely different protein from the beginning of this exon . . . until the second half of exon 8 in which a stop codon would be introduced".
By comparing the segregation of both variants with coat colour in 73 animals from two breeds, Demars et al. (2018) showed that only the deletion variant segregated perfectly with coat colour. Combining these results with other evidence, Demars et al. (2018) concluded that "The c.585delG variant remains as the most likely causative variant for coat color dilution in multiple rabbit breeds."Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MLPH||melanophilin||Oryctolagus cuniculus||-||no genomic information (-..-)||MLPH||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|
|Lionhead Dwarf Loh Netherland Dwarf||Coat colour, dilute||MLPH||deletion, small (<=20)||g.549853delG||c.585delG||p.L195LfsX123*||2013||24376820|
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.
|2018||Demars, J., Iannuccelli, N., Utzeri, V.J., Auvinet, G., Riquet, J., Fontanesi, L., Allain, D. :|
|New insights into the Melanophilin MLPH) Gene Affecting Coat Color Dilution in Rabbits. Genes (Basel) 9:, 2018. Pubmed reference: 30142960. DOI: 10.3390/genes9090430.|
|2014||Fontanesi, L., Scotti, E., Allain, D., Dall'olio, S. :|
|A frameshift mutation in the melanophilin gene causes the dilute coat colour in rabbit (Oryctolagus cuniculus) breeds. Anim Genet 45:248-55, 2014. Pubmed reference: 24320228. DOI: 10.1111/age.12104.|
|2013||Lehner, S., Gähle, M., Dierks, C., Stelter, R., Gerber, J., Brehm, R., Distl, O. :|
|Two-exon skipping within MLPH is associated with coat color dilution in rabbits. PLoS One 8:e84525, 2013. Pubmed reference: 24376820. DOI: 10.1371/journal.pone.0084525.|
|2012||Fontanesi, L., Scotti, E., Dall'Olio, S., Oulmouden, A., Russo, V. :|
|Identification and analysis of single nucleotide polymorphisms in the myosin VA (MYO5A) gene and its exclusion as the causative gene of the dilute coat colour locus in rabbit. World Rabbit Science 20:35-41, 2012.|
|1958||Robinson, R. :|
|Genetic studies of the rabbit. Bibliographia Genetica 17:229–558, 1958.|
|1909||Castle, W.E., Walter, H.E., Mullenix, R.C., Cobb, S. :|
|Studies of Inheritance in Rabbits. Carnegie Institute Washington Publication, Washington. series no. 114 :, 1909.|
- Created by Frank Nicholas on 15 Sep 2018