Scientific Reports · 2016 · 78 citations · 52 references
Life SciencesGeneticsMolecular BiologyGametogenesisGene ExpressionTranscriptional RegulationGamete FormationMale InfertilitySperm BiologySpermatogenesis GeneticsTesticular FunctionApoptosis In Spermatogenic CellsApoptosis In TestisDevelopmental Transcription FactorsGene Expression During SpermatogenesisMultinucleated Giant CellsRna Sequencing (Rna-seq)Spermatogenesis ApoptosisTestis-specific Gene Function
The regulatory factor X (RFX) family of transcription factors is crucial for ciliogenesis throughout evolution. In mice, Rfx1-4 are highly expressed in the testis where flagellated sperm are produced, but the functions of these factors in spermatogenesis remain unknown. Here, we report the production and characterization of the Rfx2 knockout mice. The male knockout mice were sterile due to the arrest of spermatogenesis at an early round spermatid step. The Rfx2-null round spermatids detached from the seminiferous tubules, forming large multinucleated giant cells that underwent apoptosis. In the mutants, formation of the flagellum was inhibited at its earliest stage. RNA-seq analysis identified a large number of cilia-related genes and testis-specific genes that were regulated by RFX2. Many of these genes were direct targets of RFX2, as revealed by chromatin immunoprecipitation-PCR assays. These findings indicate that RFX2 is a key regulator of the post-meiotic development of mouse spermatogenic cells.
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