A Third <i>MLPH</i> Variant Causing Coat Color Dilution in Dogs
Altered melanosome transport in melanocytes, resulting from variants in the melanophilin (<i>MLPH</i>) gene, are associated with inherited forms of coat color dilution in many species. In dogs, the <i>MLPH</i> gene corresponds to the D locus and two variants, c.−22G > A (d...
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doaj-bdcbd25b23184055ad9e285f0eff6a2a2020-11-25T03:17:04ZengMDPI AGGenes2073-44252020-06-011163963910.3390/genes11060639A Third <i>MLPH</i> Variant Causing Coat Color Dilution in DogsSamantha L. Van Buren0Katie M. Minor1Robert A. Grahn2James R. Mickelson3Jennifer C. Grahn4Julia Malvick5Jennifer R. Colangelo6Elisabeth Mueller7Petra Kuehnlein8Alexandra Kehl9Department of Veterinary Clinical Sciences, University of Minnesota, St. Paul, MN 55108, USADepartment of Veterinary Clinical Sciences, University of Minnesota, St. Paul, MN 55108, USAVeterinary Genetics Laboratory, School of Veterinary Medicine, University of California at Davis, Davis, CA 95616, USADepartment of Veterinary and Biomedical Sciences, University of Minnesota, St. Paul, MN 55108, USAVeterinary Genetics Laboratory, School of Veterinary Medicine, University of California at Davis, Davis, CA 95616, USAVeterinary Genetics Laboratory, School of Veterinary Medicine, University of California at Davis, Davis, CA 95616, USAVeterinary Genetics Laboratory, School of Veterinary Medicine, University of California at Davis, Davis, CA 95616, USALaboklin GmbH&Co.KG, Steubenstraße 4, D-97688 Bad Kissingen, GermanyLaboklin GmbH&Co.KG, Steubenstraße 4, D-97688 Bad Kissingen, GermanyLaboklin GmbH&Co.KG, Steubenstraße 4, D-97688 Bad Kissingen, GermanyAltered melanosome transport in melanocytes, resulting from variants in the melanophilin (<i>MLPH</i>) gene, are associated with inherited forms of coat color dilution in many species. In dogs, the <i>MLPH</i> gene corresponds to the D locus and two variants, c.−22G > A (d<sup>1</sup>) and c.705G > C (d<sup>2</sup>), 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 <i>MLPH</i> variant, (c.667_668insC) (d<sup>3</sup>), which leads to a frameshift and premature stop codon (p.His223Profs*41). The d<sup>3</sup> 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 d<sup>3</sup> allele contributed to the grey (dilute) phenotype were d<sup>1</sup>/d<sup>3</sup> compound heterozygotes or d<sup>3</sup> 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.https://www.mdpi.com/2073-4425/11/6/639<i>Canis lupus</i>mammalian pigmentationmelanophilincoat color dilutioncoat color genescoat color phenotypes |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Samantha L. Van Buren Katie M. Minor Robert A. Grahn James R. Mickelson Jennifer C. Grahn Julia Malvick Jennifer R. Colangelo Elisabeth Mueller Petra Kuehnlein Alexandra Kehl |
spellingShingle |
Samantha L. Van Buren Katie M. Minor Robert A. Grahn James R. Mickelson Jennifer C. Grahn Julia Malvick Jennifer R. Colangelo Elisabeth Mueller Petra Kuehnlein Alexandra Kehl A Third <i>MLPH</i> Variant Causing Coat Color Dilution in Dogs Genes <i>Canis lupus</i> mammalian pigmentation melanophilin coat color dilution coat color genes coat color phenotypes |
author_facet |
Samantha L. Van Buren Katie M. Minor Robert A. Grahn James R. Mickelson Jennifer C. Grahn Julia Malvick Jennifer R. Colangelo Elisabeth Mueller Petra Kuehnlein Alexandra Kehl |
author_sort |
Samantha L. Van Buren |
title |
A Third <i>MLPH</i> Variant Causing Coat Color Dilution in Dogs |
title_short |
A Third <i>MLPH</i> Variant Causing Coat Color Dilution in Dogs |
title_full |
A Third <i>MLPH</i> Variant Causing Coat Color Dilution in Dogs |
title_fullStr |
A Third <i>MLPH</i> Variant Causing Coat Color Dilution in Dogs |
title_full_unstemmed |
A Third <i>MLPH</i> Variant Causing Coat Color Dilution in Dogs |
title_sort |
third <i>mlph</i> variant causing coat color dilution in dogs |
publisher |
MDPI AG |
series |
Genes |
issn |
2073-4425 |
publishDate |
2020-06-01 |
description |
Altered melanosome transport in melanocytes, resulting from variants in the melanophilin (<i>MLPH</i>) gene, are associated with inherited forms of coat color dilution in many species. In dogs, the <i>MLPH</i> gene corresponds to the D locus and two variants, c.−22G > A (d<sup>1</sup>) and c.705G > C (d<sup>2</sup>), 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 <i>MLPH</i> variant, (c.667_668insC) (d<sup>3</sup>), which leads to a frameshift and premature stop codon (p.His223Profs*41). The d<sup>3</sup> 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 d<sup>3</sup> allele contributed to the grey (dilute) phenotype were d<sup>1</sup>/d<sup>3</sup> compound heterozygotes or d<sup>3</sup> 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. |
topic |
<i>Canis lupus</i> mammalian pigmentation melanophilin coat color dilution coat color genes coat color phenotypes |
url |
https://www.mdpi.com/2073-4425/11/6/639 |
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