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Origines et conséquences des variants régulateurs chez l'humain

Abstract : Gene expression is the result of numerous interactions, from transcription regulation by promoters and enhancers, to several forms of post-transcriptionnal regulation. But each regulatory region is under different selective constraint. In this context, the study of the evolution of regulatory regions in human populations and their relative contribution to the variability of gene expression are vital to the understanding of the human phenotypic diversity. This thesis studies the contribution of the genetic diversity to gene regulation following to different path of investigations. I investigated the consequences of the Neanderthal introgression on diversity of regulatory regions in Eurasians populations. I identified which are the regulatory regions that which diversity is unexpectedly influenced by Neanderthal introgressed mutations, and also identified the sources of the associated selection event. I also focused on the specific case of the regulation by miRNA. Using small RNA sequencing in monocytes, either resting or immune-stimulated, of 100 individual of European ancestry and 100 individuals of African ancestry. I studied the diversity of miRNA expression within this cohort, but also how miRNA participate to the regulation of genes in an immune context.
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https://tel.archives-ouvertes.fr/tel-03017324
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Submitted on : Friday, November 20, 2020 - 6:24:07 PM
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  • HAL Id : tel-03017324, version 1

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Martin Silvert. Origines et conséquences des variants régulateurs chez l'humain. Génétique des populations [q-bio.PE]. Sorbonne Université, 2019. Français. ⟨NNT : 2019SORUS359⟩. ⟨tel-03017324⟩

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