OMIA 000031-9940 : Coat colour, dilution, MLPH-related in Ovis aries

In other species: dog , domestic cat , cattle , rabbit , American mink

Possibly relevant human trait(s) and/or gene(s) (MIM number): 609227

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2020

Cross-species summary: FN acknowledges invaluable feedback from Cord Drögemüller that has led to the name of this phene being changed from "Coat colour, diluted" to "Coat colour, dilution, MLPH-related". At the same time, a new phene "Coat colour, dilution, generic" was created.

Species-specific description: Posbergh et al. (2020): "A dilute phenotype has been observed within the Jacob breed, often called lilac. This dilution results in the nonwhite portions of the wool appearing gray, rather than the traditional black."

Inheritance: Posbergh et al. (2020): "based on pedigree analysis of the Jacob Sheep Breeders Association registry, the dilution is inherited and expressed in an autosomal recessive pattern [Anjola and McEwan, 2018]"

Molecular basis: Posbergh et al. (2020) reported "a nonsynonymous mutation within MLPH, which appeared to match the reported autosomal recessive nature of the lilac dilution. This mutation (NC_019458.2:g.3451931C>A) results in a premature stop codon being introduced early in the protein (NP_001139743.1:p.Glu14*), likely losing its function. Validation testing of additional lilac Jacob sheep and known carriers, unrelated to the original case, showed a complete concordance between the mutation and the dilution."

Breed: Jacob.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MLPH melanophilin Ovis aries 1 NC_040252.1 (3587459..3540879) MLPH 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.

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
Jacob Lilac MLPH nonsense (stop-gain) Oar_v4.0 1 g.3451931C>A p.(Glu14*) NC_019458.2:g.3451931C>A; NP_001139743.1:p.Glu14* (Posbergh et al., 2020) 2020 32512769

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.
2020 Posbergh, C.J., Staiger, E.A., Huson, H.J. :
A Stop-Gain Mutation within <i>MLPH</i> Is Responsible for the Lilac Dilution Observed in Jacob Sheep. Genes (Basel) 11:, 2020. Pubmed reference: 32512769. DOI: 10.3390/genes11060618.
2018 Anjola, O., McEwan, N. :
Inheritance patterns of coat colouration and horn number in Jacob sheep Open Agriculture 3:363-367, 2018.

Edit History


  • Created by Frank Nicholas on 11 Jun 2020
  • Changed by Frank Nicholas on 11 Jun 2020