A mutation in Olfactomedin-like 3 (OLFML3) is a candidate for severe goniodysgenesis and glaucoma in Border Collies

Goniodysgenesis is a developmental abnormality of the anterior chamber of the eye. It is generally considered to be congenital in dogs and has been associated with glaucoma and blindness. Goniodysgenesis and early-onset glaucoma emerged in the Border Collie breed in Australia in the late 1990s and has since been found in Europe and the USA. Read more about A mutation in Olfactomedin-like 3 (OLFML3) is a candidate for severe goniodysgenesis and glaucoma in Border Collies[…]

Canine breed specific cancers as natural models for rare and/or aggressive human cancer types: examples of sarcomas, melanomas, lymphomas and gliomas.

Through the French Cani-DNA biobank, developed in the team since 2005, we have collected over 3000 samples (blood and paired tumour/normal tissues) form many dogs affected by breed specific cancers, as well as controls of the same breeds, for which there are specific issues in the human corresponding cancers. Indeed, naturally occurring canine cancers are Read more about Canine breed specific cancers as natural models for rare and/or aggressive human cancer types: examples of sarcomas, melanomas, lymphomas and gliomas.[…]

A novel form of retinal degeneration in Labrador retrievers

Inherited retinal degenerations are a clinically and genetically heterogeneous group of diseases affecting both humans and dogs. Approximately 30 genes have so far been identified in various dog breeds. One of the most widespread mutations is the p.C2Y mutation in the PRCD gene causing progressive retinal atrophy (PRA) which primarily affects rod photoreceptor cells. The Read more about A novel form of retinal degeneration in Labrador retrievers[…]

Genetic approaches to Brachycephalic Obstructive Airway Syndrome in three canine breeds.

Introduction: Brachycephalic obstructive airway syndrome (BOAS) is a serious health and welfare problem for many brachycephalic dogs, and is beyond any doubt the most divisive issue within companion animal medicine in the UK at the present time. Whilst the genetics of brachycephaly have been investigated elsewhere, the genetics of BOAS have received less attention: in Read more about Genetic approaches to Brachycephalic Obstructive Airway Syndrome in three canine breeds.[…]

Detection and Characterisation of a Genetic Association with Norwich Terrier Upper Airway Syndrome

In domestic dogs, the “flat-faced” brachycephalic head shape is a risk factor for developing the respiratory defect, Brachycephalic Obstructive Airway Syndrome (BOAS). As the popularity of breeds such as the French bulldog continues to increase in the UK, so too are the expected incidences of BOAS. For this reason, we became interested in the Norwich Read more about Detection and Characterisation of a Genetic Association with Norwich Terrier Upper Airway Syndrome[…]

Extensive whole genome sequencing comparisons in dogs elucidates a putative novel candidate gene for retinal degeneration.

Retinitis pigmentosas (RP) are genetically heterogeneous, progressive diseases characterised by retinal degeneration and causing loss of vision before middle age, and affecting in 1 in 2000 humans. The canine equivalent, progressive retinal atrophy (PRA) is untreatable and affects multiple dog breeds, significantly impacting dog welfare. A novel form of PRA was diagnosed in a family Read more about Extensive whole genome sequencing comparisons in dogs elucidates a putative novel candidate gene for retinal degeneration.[…]

Glioma in dogs: interest of spontaneous models for the genetics of human gliomas

Human glioma are brain cancers with a dramatic 5 year survival time of 5% even applying the unique reference treatment based on radio- and chemotherapy. Interestingly, among the many dog breeds prone to spontaneously develop cancers, brachycephalic breeds (Boxers, Bulldogs, Boston terriers…) are particularly affected by glial tumors. Dogs share the same environment as humans Read more about Glioma in dogs: interest of spontaneous models for the genetics of human gliomas[…]

Candidate genes for feline hypertrophic cardiomyopathy: analysis of 18 sarcomeric and non-sarcomeric genes

Hypertrophic cardiomyopathy (HCM) is a common heritable myocardial disease in cats. In humans, HCM is typically caused by mutations in cardiac sarcomere protein genes and occasionally in non-sarcomeric genes. In cats only 2 causative mutations for HCM have been identified so far; both in the sarcomeric gene MYBPC3. We hypothesised that HCM in cats is Read more about Candidate genes for feline hypertrophic cardiomyopathy: analysis of 18 sarcomeric and non-sarcomeric genes[…]

Genetic investigation of oculoskeletal dysplasia in the Northern Inuit dog

Oculoskeletal dysplasia (OSD) is a hereditary condition in dogs characterised by skeletal and ocular defects. Mutations in collagen genes, COL9A2 and COL9A3, have previously been implicated in the disease in the Samoyed and Labrador retriever breeds respectively. OSD was first observed in the Northern Inuit dog (NID) breed in 2012, with six dogs from two Read more about Genetic investigation of oculoskeletal dysplasia in the Northern Inuit dog[…]

Genetic analyses of Lhasa Apso dogs with progressive retinal atrophy identifies a LINE-1 insertion in the promoter region of a retinal candidate gene.

Canine progressive retinal atrophy (PRA) is a degenerative retinal disease characterised by photoreceptor degeneration over time, increasing in severity and ultimately leading to vision loss. PRA affects multiple breeds and significantly impacts welfare. In the Lhasa Apso (LA) dog, PRA manifests typically as a mid-late onset form. Utilisation of whole-exome sequencing (WES) data previously generated Read more about Genetic analyses of Lhasa Apso dogs with progressive retinal atrophy identifies a LINE-1 insertion in the promoter region of a retinal candidate gene.[…]