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INRA
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

INRA GABI Unit

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

Identification of two mutations responsible for embryo death in the Holstein breed

Identification of two mutations responsible for embryo death in the Holstein breed
© réservés
The development of bovine genomic selection has produced a large number of genotypings. Using this database, haplotypes presenting an important deficit in homozygotes were identified with increasing strength. It also allows testing candidate mutations shown after sequencing and with good annotation information. These two approaches allowed the identification of two ideal mutations in the homozygous state in SDE2 and CENPU genes.

KEY-WORDS: Bovine ; fertility ; embryo mortality ; Holstein breed

Veau dans la "nursery" à la ferme de Bressonvilliers.

The rapid development of bovine genomic selection has produced a large number of genotypings. This growing database allows the detection with increasing strength, of haplotypes that present important deficits, and even the absence of homozygotes. In the Holstein breed, five haplotypes (HH1-HH5) were therefore detected and completely characterized through their causal mutations. In fact, a genotyping array also has a specific part that is used for testing candidate mutations. Amongst these, some have been selected on the basis of their functional annotations predicted using bioinformatics tools, which allow measuring their effect on the population level. 

Using data from more than 150 000 individual typings with parents also typed, we showed that a haplotype, named HH6, is absent in the homozygous state. Risky matings between male carriers and daughters of carrier fathers show a decrease in fertility which is coherent with a lethal recessive determinism. The sequence analysis of carrier individuals compared to the rest of the sequenced population of the "1000 bovine genomes" project showed that the mutation affects the initiating codon of the SDE2 gene implicated in genome stability during mitosis. It is completely conserved in all eucaryotes.

Indeed, a mutation located in the CENPU gene was shown using the Holstein bull sequence. The protein coded by this gene is implicated in the assembly of centrosomes. The mutation, a deletion of four bases on a splicing site, probably keeps all mitosis from happening and it is predicted as being lethal. This variant has been present on the Eurogenomics array since 2015; no homozygote has been observed amongst over 100 000 typings. As for HH6, the reproduction data show a decrease in fertility which is coherent with a lethal recessive determinism.

These two proven approaches will continue to provide other results in the future. The reverse genetics approach based on functional detection and annotation of variants is particularly attractive. Confirmation by massive genotyping is a strong method, especially since the functional validation of lethal mutations of embryos is very difficult.

The tests for these mutations are available on the Eurogenomics array and are used in genomic selection in France and Europe and these variants may be the object of a counter-selection.

Contact(s)

Scientific correspondant:

Associated division: Animal Genetics

Associated research center : Jouy-en-josas

INRA Metaprogram: SelGen

 

#OpenScience3

INRA Guidance Document Priority

#OpenScience-3 : Predictive approaches in biologye

See also

Bibliographic references

Fritz S., Hoze C., Rebours E., Barbat A., Bizard M., Chamberlain A., Escouflaire C., Vander Jagt C., Boussaha M., Grohs C., Allais-Bonnet A., Philippe M., Vallee A., Amigues Y., Hayes B.J., Boichard D., Capitan A. 2018. An initiator codon mutation in SDE2 causes recessive embryonic lethality in Holstein cattle. J Dairy Sci, 101, 6220-6231.

Escouflaire C., Fritz S., Hoze C., Rebours E., Barbat A., Bizard M., Chamberlain A., Vander Jagt C., Boussaha M., Grohs C., Allais-Bonnet A., Philippe M., Vallee A., Amigues Y. Hayes B.J., Boichard D., Capitan A. 2018. Identification and characterization of two new recessive embryonic lethal mutations in Holstein cattle. Interbull meeting, 10-12 février 2018, Auckland, Nouvelle Zélande.