Publications by authors named "B Conne"
Leydig cells (LCs) are the major androgen-producing cells in the testis. They arise from steroidogenic progenitors (SPs), whose origins, maintenance, and differentiation dynamics remain largely unknown. Single-cell transcriptomics reveal that the mouse steroidogenic lineage is specified as early as embryonic day 12.
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- Male infertility is a significant health issue, with multiple morphological abnormalities of the flagella (MMAF) being a severe form that causes asthenozoospermia due to irregular sperm flagella.
- Six genes linked to MMAF have been identified; however, many cases remain unexplained, indicating more undiscovered gene defects.
- Whole-exome sequencing revealed that mutations in the ARMC2 gene cause the MMAF phenotype in both humans and mice, highlighting its crucial role in sperm flagellum structure and assembly.
Article Synopsis
- The genetic basis of oocyte meiotic deficiency (OMD), a primary infertility issue linked to immature egg production, is under-researched.
- A study using whole exome sequencing revealed that 26% of individuals with OMD carried the same harmful mutation in the PATL2 gene, which is thought to be crucial for RNA regulation.
- Experiments with knockout mice indicated that the absence of PATL2 disrupts oocyte development and maturation by affecting key gene expressions, establishing PATL2 as an important factor in mammalian fertility.
Article Synopsis
- High throughput sequencing (HTS) helps identify genetic variants and genes related to diseases, while CRISPR/Cas9 allows researchers to create models to study these variants and their effects.
- Researchers examined 78 infertile men with sperm flagella anomalies and discovered that 63% had homozygous mutations in certain genes through whole exome sequencing (WES).
- By creating mouse models using CRISPR/Cas9, they confirmed these genetic findings and found a high rate of germline mosaicism, indicating that mutational events continued to occur after initial editing; this combination of techniques proved effective for studying infertility.
Article Synopsis
- Spermatogenesis issues affect millions of men globally, but many remain undiagnosed.
- The research identified 22 men with primary infertility linked to mutations in genes DNAH1, CFAP43, and CFAP44, confirmed through genetic sequencing.
- CRISPR/Cas9 experiments on mice demonstrated that CFAP43 and CFAP44 are crucial for producing functional sperm flagella, underscoring their importance across different species.