Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs
Open Access
- 19 July 2021
- Vol. 12 (7), 1092
- https://doi.org/10.3390/genes12071092
Abstract
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.This publication has 20 references indexed in Scilit:
- Hermansky-Pudlak SyndromeClinics in Chest Medicine, 2016
- Clinical and Laboratory Findings in Patients with δ-Storage Pool Disease: A Case SeriesSeminars in Thrombosis and Hemostasis, 2016
- Pro‐coagulant thromboelastographic features in the bulldogJournal of Small Animal Practice, 2014
- Hermansky-Pudlak Syndrome: A Case ReportCase Reports in Hematology, 2014
- Hermansky-Pudlak syndrome2014
- TYRP1 and MC1R genotypes and their effects on coat color in dogsMammalian Genome, 2002
- The Gene Mutated in Cocoa Mice, Carrying a Defect of Organelle Biogenesis, Is a Homologue of the Human Hermansky–Pudlak Syndrome-3 GeneGenomics, 2001
- Hermansky-Pudlak syndrome: clinical presentation and confirmation of the value of the mepacrine-based cytofluorimetry test in the diagnosis of delta granule deficiency.2001
- Rapid detection of hereditary and acquired platelet storage pool deficiency by flow cytometryBritish Journal of Haematology, 1995
- Cocoa: a new mouse model for platelet storage pool deficiencyBritish Journal of Haematology, 1988