Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs
A nonsense variant in HPS3, c.2420G>A or p.Trp807*, was recently discovered as the cause for a brown coat color termed cocoa in French Bulldogs. Here, we studied the genotype–phenotype correlation regarding coat color in HPS3 mutant dogs that carried various combinations of mutant alleles at othe...
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ftmdpi:oai:mdpi.com:/2073-4425/12/7/1092/ 2023-08-20T04:05:48+02:00 Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs Anna Laukner Laura Truchet Georgi Manukjan Harald Schulze Ines Langbein-Detsch Elisabeth Mueller Tosso Leeb Alexandra Kehl agris 2021-07-19 application/pdf https://doi.org/10.3390/genes12071092 EN eng Multidisciplinary Digital Publishing Institute Animal Genetics and Genomics https://dx.doi.org/10.3390/genes12071092 https://creativecommons.org/licenses/by/4.0/ Genes; Volume 12; Issue 7; Pages: 1092 Canis lupus familiaris dog thrombocyte pigmentation hematology platelet Text 2021 ftmdpi https://doi.org/10.3390/genes12071092 2023-08-01T02:13:17Z A nonsense variant in HPS3, c.2420G>A or p.Trp807*, was recently discovered as the cause for a brown coat color termed cocoa in French Bulldogs. Here, we studied the genotype–phenotype correlation regarding coat color in HPS3 mutant dogs that carried various combinations of mutant alleles at other coat color genes. Different combinations of HPS3, MLPH and TYRP1 genotypes resulted in subtly different shades of brown coat colors. As HPS3 variants in humans cause the Hermansky–Pudlak syndrome type 3, which in addition to oculocutaneous albinism is characterized by a storage pool deficiency leading to bleeding tendency, we also investigated the phenotypic consequences of the HPS3 variant in French Bulldogs on hematological parameters. HPS3 mutant dogs had a significantly lowered platelet dense granules abundance. However, no increased bleeding tendencies in daily routine were reported by dog owners. We therefore conclude that in dogs, the phenotypic effect of the HPS3 variant is largely restricted to pigmentation. While an effect on platelet morphology is evident, we did not obtain any indications for major health problems associated with the cocoa coat color in French Bulldogs. Further studies will be necessary to definitely rule out very subtle effects on visual acuity or a clinically relevant bleeding disorder. Text Canis lupus MDPI Open Access Publishing Genes 12 7 1092 |
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MDPI Open Access Publishing |
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Canis lupus familiaris dog thrombocyte pigmentation hematology platelet |
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Canis lupus familiaris dog thrombocyte pigmentation hematology platelet Anna Laukner Laura Truchet Georgi Manukjan Harald Schulze Ines Langbein-Detsch Elisabeth Mueller Tosso Leeb Alexandra Kehl Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs |
topic_facet |
Canis lupus familiaris dog thrombocyte pigmentation hematology platelet |
description |
A nonsense variant in HPS3, c.2420G>A or p.Trp807*, was recently discovered as the cause for a brown coat color termed cocoa in French Bulldogs. Here, we studied the genotype–phenotype correlation regarding coat color in HPS3 mutant dogs that carried various combinations of mutant alleles at other coat color genes. Different combinations of HPS3, MLPH and TYRP1 genotypes resulted in subtly different shades of brown coat colors. As HPS3 variants in humans cause the Hermansky–Pudlak syndrome type 3, which in addition to oculocutaneous albinism is characterized by a storage pool deficiency leading to bleeding tendency, we also investigated the phenotypic consequences of the HPS3 variant in French Bulldogs on hematological parameters. HPS3 mutant dogs had a significantly lowered platelet dense granules abundance. However, no increased bleeding tendencies in daily routine were reported by dog owners. We therefore conclude that in dogs, the phenotypic effect of the HPS3 variant is largely restricted to pigmentation. While an effect on platelet morphology is evident, we did not obtain any indications for major health problems associated with the cocoa coat color in French Bulldogs. Further studies will be necessary to definitely rule out very subtle effects on visual acuity or a clinically relevant bleeding disorder. |
format |
Text |
author |
Anna Laukner Laura Truchet Georgi Manukjan Harald Schulze Ines Langbein-Detsch Elisabeth Mueller Tosso Leeb Alexandra Kehl |
author_facet |
Anna Laukner Laura Truchet Georgi Manukjan Harald Schulze Ines Langbein-Detsch Elisabeth Mueller Tosso Leeb Alexandra Kehl |
author_sort |
Anna Laukner |
title |
Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs |
title_short |
Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs |
title_full |
Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs |
title_fullStr |
Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs |
title_full_unstemmed |
Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs |
title_sort |
effects of cocoa genotypes on coat color, platelets and coagulation parameters in french bulldogs |
publisher |
Multidisciplinary Digital Publishing Institute |
publishDate |
2021 |
url |
https://doi.org/10.3390/genes12071092 |
op_coverage |
agris |
genre |
Canis lupus |
genre_facet |
Canis lupus |
op_source |
Genes; Volume 12; Issue 7; Pages: 1092 |
op_relation |
Animal Genetics and Genomics https://dx.doi.org/10.3390/genes12071092 |
op_rights |
https://creativecommons.org/licenses/by/4.0/ |
op_doi |
https://doi.org/10.3390/genes12071092 |
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Genes |
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12 |
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7 |
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1092 |
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