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Hum Genet. 2019 May;138(5):441-453. doi: 10.1007/s00439-019-01999-6. Epub 2019 Mar 23.

Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds.

Author information

1
University of Rennes, CNRS, IGDR (Institut de génétique et développement de Rennes)-UMR6290, 35000, Rennes, France.
2
Clinique Vétérinaire, 52 Boulevard M. Pourchon, Clermont-Ferrand, 63100, France.
3
INSERM U1051, Institute for Neurosciences of Montpellier, Hopital Saint Eloi, Montpellier, France.
4
Clinique vétérinaire Rive Ouest, Rennes, France.
5
University of Rennes, CNRS, IGDR (Institut de génétique et développement de Rennes)-UMR6290, 35000, Rennes, France. pascale.quignon@univ-rennes1.fr.

Abstract

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders eventually leading to blindness with different ages of onset, progression and severity. Human RP, first characterized by the progressive degeneration of rod photoreceptor cells, shows high genetic heterogeneity with more than 90 genes identified. However, about one-third of patients have no known genetic causes. Interestingly, dogs are also severely affected by similar diseases, called progressive retinal atrophy (PRA). Indeed, RP and PRA have comparable clinical signs, physiopathology and outcomes, similar diagnosis methods and most often, orthologous genes are involved. The many different dog PRAs often segregate in specific breeds. Indeed, undesired alleles have been selected and amplified through drastic selection and excessive use of inbreeding. Out of the 400 breeds, nearly 100 have an inherited form of PRA, which are natural animal models that can be used to investigate the genetics, disease progression and therapies in dogs for the benefit of both dogs and humans. Recent knowledge on the canine genome and access to new genotyping and sequencing technologies now efficiently allows the identification of mutations involved in canine genetic diseases. To date, PRA genes identified in dog breeds correspond to the same genes in humans and represent relevant RP models, and new genes found in dogs represent good candidate for still unknown human RP. We present here a review of the main advantages of the dog models for human RP with the genes already identified and an X-linked PRA in the Border collie as a model for orphan X-linked RPs in human.

PMID:
30904946
DOI:
10.1007/s00439-019-01999-6
[Indexed for MEDLINE]

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