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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

Identification of four mutations responsible for embryo mortality in dairy cattle

A search for haplotypes presenting an important homozygote deficiency was led in a population with 76177 animals typed during a genomic selection campaign. Genome regions with deleterious recessive mutations were detected in three cattle breeds Thirty-three regions, never identified in the homozygous state, were detected. Ten have a confirmed effect on fertility, and for four of them, the causal mutation was identified on the GART, SMC2, SLC37A2 and NOA1 genes. Selection is underway for some of them to reduce the number of carrier animals.

Context and stakes

Fertility is an important stake for the sustainability of dairy production. Mutations that induce early death during gestation are difficult to identifiy since they only cause a small number of  individual losses and often happen without being noticed. Genomic selection has produced a high number of genotyped animals therefore facilitating the search for regions of the genome that are relatively frequent at the population level and that present a deficit in homozygous individuals. The hypothesis has been made that these regions are good QTL (Quantitative Trait Locus) candidates inducing embryo mortality at the homozygous state. Once these regions have been detected, more sequenced genomes will make the search for the corresponding causal mutations easier, facilitating their eradication.


Genome regions carrying recessive deleterious mutations were detected in three dairy cattle breeds while searching for relatively frequent haplotypes (>1%) but which also have a high deficit in homozygotes. The detection is based on the use of genotyping data obtained using the BovineSNP50® array used in genomic selection (47 878 Holstein animals, 16833 Montbeliard and 11 466 Normandy). Thirty-three regions were identified, confirming the existence of some already known. The length of these regions varied from 1 to 4.8 Mb with frequencies of 1.8 to 9%. A significant negative effect on fertility was observed for 10 of these regions in matings between carrier bulls and daughters of carrier bulls, confirming their association with lethal mutations at the embryo stage. These regions were then analyzed with the complete sequence data from the carrier and control bulls (45 animals in all). Four very probable new candidate mutations were identified, with very deleterious predicted effects on the protein structures of the GART, SMC2, SLC37A2, and NOA1 genes. In addition it was confirmed that no homozygotes were produced.


Other analogous mutations are being sought. In fact, when a homozygote deficiency is observed without loss of fertility, it is probable that there is a delayed (post-natal) effect. A search is then scheduled to identify the effects of these mutations. These mutations are then added onto the genotyping array, which will allow validating them on a large scale. 


A first article was published in Plos One. The SMC2 mutation is described in a paper currently being revised by the "1000 bull genome" consortium. The results were presented at two international meetings (PAG and EAAP) and during the French Ruminant Research days.

The mutations have been added to the genotyping arrays used in genomic selection, which allow gaining information on the breeding animals. Systematic eradication is not recommended since it would be extremely costly for selection programmes. A counter-selection should be undertaken to progressively decrease the frequency of these mutations. The mating schedules should already avoid matings at risk.


Fritz S., Capitan A., Djari A., Rodriguez S.C., Barbat A., Baur A., Grohs C., Weiss B., Boussaha M., Esquerré D., Klopp C., Rocha D., Boichard D. 2013. Detection of haplotypes associated with prenatal death in dairy cattle and identification of deleterious mutations in GART, SHBG, and SLC37A2. Plos One, 8, e65550.

Fritz S., Capitan A., Djari A., Grohs C., Boussaha M., Baur A., Barbat A., Lefebvre R., Esquerré D., Klopp C., Rocha D., Boichard D. 2013. Identification de QTL associés à de la mortalité embryonnaire chez les bovins laitiers. 20èmes Rencontres Recherches Ruminants, 4-5 décembre 2013, Paris.