Test Detail

D-locus d1 (dilution) MLPH all breeds

Dermatológico · Dog

Colour dilution associated with the D locus is caused by variants in the MLPH gene (melanophilin). The recessive allele d gives rise to lightened coats (blue, grey, lilac, etc.) and, in a subset of affected dogs, predisposes to colour dilution alopecia (CDA), a dermatosis with hair loss and folliculitis. The effect on colour is seen in many breeds; susceptibility to CDA varies greatly between breeds.
Inheritance patternAutosomal recessive (D locus). The diluted coat phenotype requires homozygosity of the recessive allele d (d/d); heterozygotes D/d are not diluted.
Gene / MutationDilution alleles of the D locus in MLPH: d1 = c.-22G>A (non-coding SNP in the splice donor of exon 1; g.48121642G>A), d2 = c.705G>C (g.48150787G>C; Chow Chow, Sloughi and Thai Ridgeback), d3 = c.667_668insC p.(His223Profs*41) (g.48150749_50insC). CDA is due to aggregates of melanosomes (macromelanosomes) that weaken the hair shaft; OMIA000031-9615.
PenetranceCoat dilution is recessive and manifests in d/d homozygotes. MLPH-associated CDA shows variable penetrance and severity depending on the breed: some (e.g. Weimaraner) rarely develop it, whereas others (e.g. Labrador Retriever with introgressed dilution alleles) show severe and frequent forms. There are genotype-phenotype inconsistencies and additional variants are suspected.
Codedlph
Turnaround time10 days
Price52,60 €

Incidence

The d1 allele is widely distributed in many breeds; d2 is relatively rare and concentrated in Chow Chow, Sloughi and Thai Ridgeback; d3 appears at low frequency across a broad spectrum of breeds and canids. There is no single reliable frequency for the species as a whole.

Breeder management

- Do not mate two diluted dogs if diluted offspring and the risk of CDA are to be avoided
- Before introducing dilution alleles into a breed, take into account the risk of CDA, which can be severe
- In breeds with a high predisposition to CDA, consider diluted colour as a selection criterion
- Remember that the D-locus test alone does not predict the onset of CDA

Specialist notes

Do not confuse MLPH dilution (D locus) with other causes of dilution, such as the MYO5A variants described in the Miniature Dachshund (dilution with Griscelli-type neurological deficit) or alleles of other loci that lighten the coat. The diagnosis of CDA is clinical-dermatological and is supported by MLPH genotyping; expression is highly variable between breeds, so advice should be cautious.

References

1. Drögemüller C et al. 2007. A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal mutation for coat color dilution in dogs. J Hered. PMID: 17519392
2. Bauer A et al. 2018. A novel MLPH variant in dogs with coat colour dilution. Anim Genet. PMID: 29349785
3. Van Buren SL et al. 2020. A Third MLPH Variant Causing Coat Color Dilution in Dogs. Genes (Basel). PMID: 32531980
OMIA000031-9615.

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