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              <ref type="publisher">http://www.journees3r.fr/spip.php?rubrique355</ref>
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                <term xml:lang="en">qtl</term>
                <term xml:lang="en">fertilité</term>
                <term xml:lang="en">mortalité embryonnaire</term>
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              <classCode scheme="vocinrae-old" n="qtl">qtl</classCode>
              <classCode scheme="vocinrae-old" n="bovin">bovin</classCode>
              <classCode scheme="vocinrae-old" n="fertilité">fertilité</classCode>
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              <p>Genomic regions harboring recessive deleterious mutations were detected in three dairy cattle  breeds by identifying frequent haplotypes (&gt;1%) showing a deficit in homozygotes among Illumina BovineSNP50 ®  Beadchip haplotypic data from the French genomic selection database (47,878 Holstein, 16,833 Montbéliarde, and  11,466 Normande animals). Thirty-three candidate haplotypes were identified including previously reported regions  associated with Brachyspina, CVM, HH1, and HH3 in the Holstein breed. Haplotype length varied from 1 to 4.8 Mb  and frequencies from 1.8 up to 9%. A significant negative effect on calving rate was observed for 10 of these  haplotypes in matings between carrier bulls and daughters of carrier sires, confirming their association with  embryonic lethal mutations. Significant effects were also detected on stillbirth for 7 haplotypes. These regions were  further investigated using whole genome sequencing data from heterozygous bull carriers and control animals (45  animals in total). Seven strong candidate causative mutations including polymorphisms previously reported in  FANCI (Brachyspina), SLC35A3 (CVM), APAF1 (HH1) and four novel mutations with very damaging predicted  effect on the protein structure were detected in GART, SMC2, SLC37A2, and NOA1 genes. In conclusion, this  study reveals a yet hidden consequence of the important inbreeding rate observed in intensively selected and  specialized cattle breeds. Whereas a systematic eradication would be extremely costly and damaging for the  breeding scheme, a gradual counter selection must be undertaken to decrease their frequency and an appropriate  mating plan must be carried out to avoid matings at risk.</p>
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              <p>Des régions du génome portant des mutations récessives délétères ont été détectées dans les trois  principales races laitières françaises en recherchant des haplotypes relativement fréquents (&gt;1%) dans la  population mais présentant un fort déficit en homozygotes. La détection repose sur l’utilisation des données de  typages de la puce BovineSNP50 ® d’Illumina utilisées en sélection génomique (47 878 animaux Holstein, 16 833  Montbéliards, et 11 466 Normands). Trente trois régions incluant les régions déjà décrites associées à  Brachyspina, CVM, HH1 et HH3 en race Holstein ont été identifiées. La longueur de ces régions varie de 1 à 4,8  Mb et les fréquences des haplotypes de 1,8 à 9%. Un effet significatif négatif sur la fertilité a été observé pour 10  de ces régions dans les accouplements à risque entre taureaux porteurs et filles de taureaux porteurs, confortant  leur association avec des mutations létales à l’état embryonnaire. Des effets significatifs ont également été  observés sur la mortinatalité pour 7 haplotypes. Ces régions ont été ensuite analysées avec des données de  séquence complète du génome de taureaux porteurs et contrôle (45 animaux au total). Des mutations candidates  très fortes ont été mises en évidence, dont trois déjà connues dans les gènes FANCI (Brachyspina), SLC35A3  (CVM), et APAF1 (HH1) et quatre nouvelles mutations avec des effets prédits très délétères sur la structure  protéique dans les gènes GART, SMC2, SLC37A2, et NOA1. En conclusion, cette étude montre un aspect jusqu’à  présent inconnu de la consanguinité dans les races bovines sélectionnées. Alors qu’une éradication systématique  serait extrêmement coûteuse financièrement pour les programmes de sélection, une contre-sélection doit être  entreprise pour diminuer progressivement la fréquence de ces mutations. Les plans d’accouplement doivent dès à  présent éviter les accouplements à risque.</p>
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