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.[…]

Cani-DNA: a French National biobank of canine samples for dog/human compared biomedical research.

Dog represents a spontaneous model of many genetic diseases including cancers and other multifactorial diseases as well as monogenic diseases. The last 10 years, genetic tools dedicated to dogs allowed to identify the genetic causes or predisposition to canine and human homologous genetic conditions. More recently, the idea emerged that dogs can be of help Read more about Cani-DNA: a French National biobank of canine samples for dog/human compared biomedical research.[…]

Regions associated with canine noise sensitivity and fear overlap human neuropsychiatric loci

Introduction: Fear is an evolutionarily important emotional state that is essential for the survival of an individual. However, extreme fearfulness can cause several behavioural problems. Dogs suffer from various naturally occurring breed-specific anxieties, such as generalized anxiety disorders, different phobias, and separation anxiety. In order to better understand the genetics of fearful behaviour in dogs, Read more about Regions associated with canine noise sensitivity and fear overlap human neuropsychiatric loci[…]

Identification and characterisation of a mutation associated with cerebellar ataxia in the Norwegian Buhund dog breed

Inherited ataxias are typically incurable and lack disease-modifying treatments. Four Norwegian Buhunds were diagnosed with cerebellar ataxia at the Animal Health Trust. Pedigree analysis was suggestive of an autosomal recessive mode of inheritance, which is typical of inherited canine ataxias. The causal variant for ataxia in these dogs was hypothesised to be private to the Read more about Identification and characterisation of a mutation associated with cerebellar ataxia in the Norwegian Buhund dog breed[…]

Give a Dog a Genome: generating a stake-holder funded bank of whole-genome sequences with which to elucidate benign and disease-associated variation within the canine genome

The advent of whole genome sequencing (WGS) has promised to revolutionise genetic research, and the rapid fall in per-sample costs in recent years has made the revolution an affordable reality for geneticists. The technology is especially useful for the study of simple Mendelian conditions where disease-causing mutations have the potential to be identified from the Read more about Give a Dog a Genome: generating a stake-holder funded bank of whole-genome sequences with which to elucidate benign and disease-associated variation within the canine genome[…]

Use of cross-country data for estimation of heritability of longevity and heart-related deaths in Doberman Pinscher

Genetic improvement with the use of Estimated Breeding Values (EBV) is a method which, after decades of successful and validated use in livestock species, slowly gains recognition in the world of dogs breeding. However, accurate EBV prediction for complex traits requires large datasets of phenotyped and related animals. While generation of such datasets is possible Read more about Use of cross-country data for estimation of heritability of longevity and heart-related deaths in Doberman Pinscher[…]

Association of primary open angle glaucoma ADAMTS17 mutations with height in two domestic dog breeds

There are currently five known ADAMTS17 mutations in the dog that are associated with the development of either primary open angle glaucoma or primary lens luxation. Interestingly, these mutations have been identified in breeds of generally short stature including terriers and Basset breeds. In humans, mutations in the ADAMTS17 gene are associated with Weill-Marchesani syndrome Read more about Association of primary open angle glaucoma ADAMTS17 mutations with height in two domestic dog breeds[…]

A dog spontaneous model for human sensory neuropathies: Identification of a mutation in a regulatory region of GDNF and DNA screening in human patients.

In humans, there are many forms of sensory neuropathies, associated or not with a loss of sensitivity to pain and sometimes accompanied by self-mutilation. Although to date 13 genes have already been implicated in this disease, they do not explain the genetic causes of all patients. Similar neuropathies are diagnosed in dogs and several breeds Read more about A dog spontaneous model for human sensory neuropathies: Identification of a mutation in a regulatory region of GDNF and DNA screening in human patients.[…]

A novel locus in chromosome 5 is associated with dilated cardiomyopathy in Doberman Pinschers

Dilated cardiomyopathy (DCM) is a breed-specific, high prevalence disorder in Doberman Pinschers. However, the genetic background of DCM and its relationship to cardiac arrhythmias remains largely unknown. To uncover the genetic risk loci and variants that are associated with DCM, we have established a cohort of over 550 Dobermans with cardiological examination, which included echography, Read more about A novel locus in chromosome 5 is associated with dilated cardiomyopathy in Doberman Pinschers[…]