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24, chemin de Borde Rouge –Auzeville – CS52627
31326 Castanet Tolosan CEDEX - France

Dernière mise à jour : Mai 2018

Menu Logo Principal AgroParisTech Université Paris-Saclay


GABI : Génétique Animale et Biologie IntégrativeUnité Mixte de Recherche INRA - AgroParisTech

A reverse genetic approach identifies a mutation in the RP1 gene inducing a retinal degeneration in different cattle species

Mutation in the RP1 gene inducing a retinal degeneration in different cattle species
Through data analysis performed within the “1000 bovine genome” project, approximately 2500 relatively frequent putative deleterious variants were listed. These variants present an important enrichment for genes associated with the nervous, visual and auditory systems. Amongst them, one variant inducing a shift in the reading of the retinitis pigmentosa-1 gene (RP1), induces a progressive degeneration of the retina and a loss of vision. This gene segregates in several breeds and presents a high frequency in the Normandy breed (27%).

Context and stakes

The availability of numerous complete sequences of the genome, in particular within the “1000 bovine genome” project, allows the search for genetic defects directly from these sequences, earlier and without waiting to detect them in affected animals.


During Pauline Michot’s doctoral studies and in partnership with Allice, a list of 2489 variants that are a priori strongly deleterious and relatively frequent (at least 5% in at least one breed) was established. These variants present a high enrichment in functions related to the nervous, visual and auditory systems along with the cardiovascular and musculoskeletal systems. Amongst them one variant inducing a reading shift and deeply modifying the protein coded by the retinitis pigmentosa-1 (RP1) gene induces a progressive degeneration of the retina and loss of photoreceptors and vision in homozygous animals. This variant segregates in several breeds and appeared 3000 years ago. It has a particularly high frequency in Normandy cattle (27%), a frequency which has decreased over the last 40 years.


This "top down" approach seems particularly efficient, even if it produces a high number of false positives. It should allow us to identify many genetic defects present in the populations and therefore to provide efficient tools to eliminate them.


Test distributed by Valogene and Labogena, through the EuroG10k SNP array.


Michot P., Chahory S., Marete A., Grohs C., Dagios D., Donzel E., Aboukadiri A., Deloche M.C., Allais-Bonnet A., Chambrial M., Barbey S., Boussaha M., Danchin-Burge C., Fritz S., Boichard D., Capitan A. 2016. A reverse genetic approach identifies an ancient frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds. Genetics Selection Evolution, 48, 56.