Abstract:
:Altered melanosome transport in melanocytes, resulting from variants in the melanophilin (MLPH) gene, are associated with inherited forms of coat color dilution in many species. In dogs, the MLPH gene corresponds to the D locus and two variants, c.-22G > A (d1) and c.705G > C (d2), leading to the dilution of coat color, as described. Here, we describe the independent investigations of dogs whose coat color dilution could not be explained by known variants, and who report a third MLPH variant, (c.667_668insC) (d3), which leads to a frameshift and premature stop codon (p.His223Profs*41). The d3 allele is found at low frequency in multiple dog breeds, as well as in wolves, wolf-dog hybrids, and indigenous dogs. Canids in which the d3 allele contributed to the grey (dilute) phenotype were d1/d3 compound heterozygotes or d3 homozygotes, and all non-dilute related dogs had one or two D alleles, consistent with a recessive inheritance. Similar to other loci responsible for coat colors in dogs, this, alongside likely additional allelic heterogeneity at the D locus, or other loci, must be considered when performing and interpreting genetic testing.
journal_name
Genes (Basel)journal_title
Genesauthors
Van Buren SL,Minor KM,Grahn RA,Mickelson JR,Grahn JC,Malvick J,Colangelo JR,Mueller E,Kuehnlein P,Kehl Adoi
10.3390/genes11060639subject
Has Abstractpub_date
2020-06-10 00:00:00issue
6issn
2073-4425pii
genes11060639journal_volume
11pub_type
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