Laukner, Anna; Truchet, Laura; Manukjan, Georgi; Schulze, Harald; Langbein-Detsch, Ines; Mueller, Elisabeth; Leeb, Tosso; Kehl, Alexandra (2021). Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs. Genes, 12(7) MDPI 10.3390/genes12071092
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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.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
05 Veterinary Medicine > Research Foci > DermFocus 05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics 05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) |
UniBE Contributor: |
Leeb, Tosso |
Subjects: |
500 Science > 590 Animals (Zoology) 600 Technology > 630 Agriculture 500 Science > 570 Life sciences; biology 600 Technology > 610 Medicine & health |
ISSN: |
2073-4425 |
Publisher: |
MDPI |
Language: |
English |
Submitter: |
Tosso Leeb |
Date Deposited: |
10 Aug 2021 14:40 |
Last Modified: |
07 Aug 2024 15:45 |
Publisher DOI: |
10.3390/genes12071092 |
PubMed ID: |
34356108 |
Uncontrolled Keywords: |
Canis lupus familiaris dog hematology pigmentation platelet thrombocyte |
BORIS DOI: |
10.48350/157982 |
URI: |
https://boris.unibe.ch/id/eprint/157982 |
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