A Third MLPH Variant Causing Coat Color Dilution in Dogs

Genes

KatieM. Minor¹  SamanthaL. Van Buren¹  JamesR. Mickelson²  Alexandra Kehl³  Elisabeth Mueller³  Petra Kuehnlein³  JenniferR. Colangelo⁴  Julia Malvick⁴  JenniferC. Grahn⁴  RobertA. Grahn⁴ 

[1] Department of Veterinary Clinical Sciences, University of Minnesota, St. Paul, MN 55108, USA;Department of Veterinary and Biomedical Sciences, University of Minnesota, St. Paul, MN 55108, USA;Laboklin GmbH&Co.KG, Steubenstraße 4, D-97688 Bad Kissingen, Germany;Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California at Davis, Davis, CA 95616, USA;

关键词: Canis lupus;    mammalian pigmentation;    melanophilin;    coat color dilution;    coat color genes;    coat color phenotypes;   

DOI  :  10.3390/genes11060639

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

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