Publications by authors named "B Mandon-Pepin"

Misfolding of the cellular PrP (PrP) protein causes prion disease, leading to neurodegenerative disorders in numerous mammalian species, including goats. A lack of PrP induces complete resistance to prion disease. The aim of this work was to engineer Alpine goats carrying knockout (KO) alleles of PRNP, the PrP-encoding gene, using CRISPR/Cas9-ribonucleoproteins and single-stranded donor oligonucleotides.

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Azoospermia (the complete absence of spermatozoa in the semen) is a common cause of male infertility. The etiology of azoospermia is poorly understood. Whole-genome analysis of azoospermic men has identified a number of candidate genes, such as the X-linked testis-expressed 11 (TEX11) gene.

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DMRT1 is the testis-determining factor in several species of vertebrates, but its involvement in mammalian testes differentiation, where is the testis-determining gene, remains ambiguous. So far, DMRT1 loss-of-function has been described in two mammalian species and induces different phenotypes: Disorders of Sex Development (46, XY DSD) in men and male infertility in mice. We thus abolished DMRT1 expression by CRISPR/Cas9 in a third species of mammal, the rabbit.

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Background: Ovarian granulosa cells (GC) are essential for the development and maturation of a proper oocyte. GC are sensitive to endocrine disruptors, including bisphenol A (BPA) and its analogue bisphenol S (BPS), plasticisers present in everyday consumer products. BPA exhibits greater binding affinity for the membrane oestrogen receptor (GPER) than for the nuclear oestrogen receptors (ERα and ERβ).

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Article Synopsis
  • Gene expression in meiotic cells in the testis involves high transcription activity and alternative splicing, governed by RNA-binding proteins crucial for fertility.
  • A frameshift mutation was found in the RBMXL2 gene of a man with azoospermia, which is linked to meiotic arrest.
  • The study confirmed loss of RBMXL2 protein in the patient's testis, indicating that the mutation disrupts spermatogenesis and leads to male infertility through altered gene expression.
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