A Third MLPH Variant Causing Coat Color Dilution in Dogs
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...
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ftmdpi:oai:mdpi.com:/2073-4425/11/6/639/ 2023-08-20T04:05:47+02:00 A Third MLPH Variant Causing Coat Color Dilution in Dogs 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 agris 2020-06-10 application/pdf https://doi.org/10.3390/genes11060639 EN eng Multidisciplinary Digital Publishing Institute Animal Genetics and Genomics https://dx.doi.org/10.3390/genes11060639 https://creativecommons.org/licenses/by/4.0/ Genes; Volume 11; Issue 6; Pages: 639 Canis lupus mammalian pigmentation melanophilin coat color dilution coat color genes coat color phenotypes Text 2020 ftmdpi https://doi.org/10.3390/genes11060639 2023-07-31T23:37:10Z 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. Text Canis lupus MDPI Open Access Publishing Genes 11 6 639 |
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MDPI Open Access Publishing |
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ftmdpi |
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English |
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Canis lupus mammalian pigmentation melanophilin coat color dilution coat color genes coat color phenotypes |
spellingShingle |
Canis lupus mammalian pigmentation melanophilin coat color dilution coat color genes coat color phenotypes 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 MLPH Variant Causing Coat Color Dilution in Dogs |
topic_facet |
Canis lupus mammalian pigmentation melanophilin coat color dilution coat color genes coat color phenotypes |
description |
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. |
format |
Text |
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 |
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 MLPH Variant Causing Coat Color Dilution in Dogs |
title_short |
A Third MLPH Variant Causing Coat Color Dilution in Dogs |
title_full |
A Third MLPH Variant Causing Coat Color Dilution in Dogs |
title_fullStr |
A Third MLPH Variant Causing Coat Color Dilution in Dogs |
title_full_unstemmed |
A Third MLPH Variant Causing Coat Color Dilution in Dogs |
title_sort |
third mlph variant causing coat color dilution in dogs |
publisher |
Multidisciplinary Digital Publishing Institute |
publishDate |
2020 |
url |
https://doi.org/10.3390/genes11060639 |
op_coverage |
agris |
genre |
Canis lupus |
genre_facet |
Canis lupus |
op_source |
Genes; Volume 11; Issue 6; Pages: 639 |
op_relation |
Animal Genetics and Genomics https://dx.doi.org/10.3390/genes11060639 |
op_rights |
https://creativecommons.org/licenses/by/4.0/ |
op_doi |
https://doi.org/10.3390/genes11060639 |
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Genes |
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11 |
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6 |
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639 |
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1774716521290924032 |