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Master Thesis

Implication de RAD50 dans l'infertilité

Abstract : RAD50 has a major role in double strand breaks’ (DSB) repair, which is essential for homologous chromosome pairing during meiosis. While RAD50 seems to be a good candidate gene in hereditary infertility, there are few publications on its possible role. The aim was to study the impact of RAD50’s expression on male mice’s fertility and then on its role in repairing DSBs within human cells. The mutated mice had reduced testicles and histological sections revealed that they had seminiferous epithelium architecture abnormalities. No spermatozoa was present in seminiferous tubules. Spermatocytes seemed to be locked in the first prophase, which is when RAD50 plays its role. To evaluate DSB’s impact in human RAD50-deficient cells, we altered RAD50’s expression by shRNA and genome editing in human primary foreskin fibroblasts (hFF). We then induced a DSB by CRISPR-Cas9 and studied viability/cell death in this cell model. We observed that RAD50 is essential for human cell survival and that low RAD50’s expression compromise cellular proliferation, and induce excessive apoptosis after DSB. Our preliminary results suggest that the exploration of RAD50 in fertility needs to be further developed, with the study of mutated female’s fertility and by reproducing these experiments under meiotic conditions.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-03436680
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Submitted on : Friday, November 19, 2021 - 2:39:04 PM
Last modification on : Friday, December 17, 2021 - 3:47:07 AM

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  • HAL Id : dumas-03436680, version 1

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Chloé Depuydt. Implication de RAD50 dans l'infertilité. Sciences du Vivant [q-bio]. 2021. ⟨dumas-03436680⟩

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