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Regulation of gene dosage on the mouse X chromosome

Objective

Differences in gene dosage can be as powerful as to drive species evolution (e.g. whole-genome duplications) and as harmful as to lead to human diseases (e.g. aneuploidies or haploinsufficiencies). Regulating the effects of gene-dosage differences is thus extremely critical, and this is paradigmatically illustrated by what happens to the X chromosome in mammals. In XX individuals, one of the X chromosomes is transcriptionally silenced as a result of a developmental and epigenetic process called X-chromosome inactivation (XCI), which is presumed to have evolved to compensate X-linked gene dosage between XX and XY individuals. Since its ‘discovery’ in 1961 by Mary Lyon, we have learnt much about XCI developmental dynamics and molecular underpinnings, however very little is understood about the developmental and molecular reasons at the basis of its evolution. REGULADOSIX aims to gain a functional and mechanistic understanding of the need of X-linked dosage compensation in mammals – we will (i) determine the developmental and molecular consequences in the absence of XCI in mouse embryogenesis, and (ii) functionally identify genes on the X chromosome that are dosage-sensitive, as well as their functions, which would have dictated the emergence of XCI in mammalian evolution. Building on my previous expertise, I propose a multidisciplinary approach at the intersection between development and genetic engineering, which includes cutting-edge genomic technologies (epigenetic screens, functional transcriptomics and proteomics) and novel approaches that we will develop to tune levels of expression in mouse embryonic stem cells and in mouse models. Besides bringing new insights into the need for dosage compensation between the mammalian sexes, REGULADOSIX will contribute to a quantitative understanding of gene expression, and pave the way to establishing fundamental principles of gene dosage regulation in development and disease.

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Keywords

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Programme(s)

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Topic(s)

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Funding Scheme

Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.

HORIZON-ERC - HORIZON ERC Grants

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Call for proposal

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(opens in new window) ERC-2024-STG

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Host institution

CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE CNRS
Net EU contribution

Net EU financial contribution. The sum of money that the participant receives, deducted by the EU contribution to its linked third party. It considers the distribution of the EU financial contribution between direct beneficiaries of the project and other types of participants, like third-party participants.

€ 1 843 419,00
Total cost

The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.

€ 1 954 154,00

Beneficiaries (2)

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