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 oth...
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ftdoajarticles:oai:doaj.org/article:6e257037b72a400da698f0d7db2c9e35 2023-05-15T15:50:32+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 2021-07-01T00:00:00Z https://doi.org/10.3390/genes12071092 https://doaj.org/article/6e257037b72a400da698f0d7db2c9e35 EN eng MDPI AG https://www.mdpi.com/2073-4425/12/7/1092 https://doaj.org/toc/2073-4425 doi:10.3390/genes12071092 2073-4425 https://doaj.org/article/6e257037b72a400da698f0d7db2c9e35 Genes, Vol 12, Iss 1092, p 1092 (2021) Canis lupus familiaris dog thrombocyte pigmentation hematology platelet Genetics QH426-470 article 2021 ftdoajarticles https://doi.org/10.3390/genes12071092 2022-12-31T06:36:36Z 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. Article in Journal/Newspaper Canis lupus Directory of Open Access Journals: DOAJ Articles Genes 12 7 1092 |
institution |
Open Polar |
collection |
Directory of Open Access Journals: DOAJ Articles |
op_collection_id |
ftdoajarticles |
language |
English |
topic |
Canis lupus familiaris dog thrombocyte pigmentation hematology platelet Genetics QH426-470 |
spellingShingle |
Canis lupus familiaris dog thrombocyte pigmentation hematology platelet Genetics QH426-470 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 Genetics QH426-470 |
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 |
Article in Journal/Newspaper |
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 |
MDPI AG |
publishDate |
2021 |
url |
https://doi.org/10.3390/genes12071092 https://doaj.org/article/6e257037b72a400da698f0d7db2c9e35 |
genre |
Canis lupus |
genre_facet |
Canis lupus |
op_source |
Genes, Vol 12, Iss 1092, p 1092 (2021) |
op_relation |
https://www.mdpi.com/2073-4425/12/7/1092 https://doaj.org/toc/2073-4425 doi:10.3390/genes12071092 2073-4425 https://doaj.org/article/6e257037b72a400da698f0d7db2c9e35 |
op_doi |
https://doi.org/10.3390/genes12071092 |
container_title |
Genes |
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12 |
container_issue |
7 |
container_start_page |
1092 |
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1766385503361302528 |