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Détection chez le bovin de polymorphismes génétiques au niveau du génome mitochondrial et des chromosomes sexuels et caractérisation de leurs effets sur les caractères de production, reproduction et santé.

Abstract : In spite of the roles of the mitochondrial genome and sex chromosomes in the expression of fertility traits and energy metabolism, currently they are not considered in French bovine genomic evaluations. This work is aiming to study the genetic variability of the mitochondrial genome and the X and Y chromosomes, to detect genetic polymorphisms, and to characterize their effects on production, reproduction and health traits. Analysis of uniparental transmission patterns revealed a discrepancy between the low diversity of Y-chromosome haplotypes and the large number of mitochondrial lines in many cattle breeds. Identification of carriers of haplogroups whose divergence predates the domestication of taurine cattle has been made at a very low frequency by genotyping. Initial studies have been carried out to estimate the effect of the variants identified on the mitochondrial genome and the Y chromosome on certain traits of interest to the breeding sector. Then, a reverse genetics approach has been applied to use sequence data to detect candidate mutations responsible for defects and mutations that may have an effect on male or female fertility or lead to an X chromosome inactivation bias. In parallel, the genetic mechanism of an X-linked defect responsible for a case of hypohidrotic ectodermal dysplasia was investigated in a Holstein heifer. In conclusion, several lines for future research are proposed to initiate a better consideration of sex chromosomes and the mitochondrial genome in the selection of cattle.
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Clémentine Escouflaire. Détection chez le bovin de polymorphismes génétiques au niveau du génome mitochondrial et des chromosomes sexuels et caractérisation de leurs effets sur les caractères de production, reproduction et santé.. Génétique animale. Université Paris-Saclay, 2020. Français. ⟨NNT : 2020UPASA015⟩. ⟨tel-03223090⟩

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