P-066 Testis expressed 44 is essential for spermatogenesis and male fertility

Abstract Study question Dose Testis expressed 44 (TEX44) gene associated with spermatogenesis and TEX44 mutations required for male infertility ? Summary answer is in testis participated spermatogenesis. And of may be involved risk asthenozoospermia lead to subfertile. What known already The World Health Organization estimates that 7-9 % population worldwide struggle infertility. Asthenoteratozoospermia one the major factors infertility, whereas causes large numbers cases are still unknown.TEX44 a protein coding gene, which specifically germ cells. However, expression, localization pattern precise underlying mechanisms mouse human have not been clearly during asthenozoospermia. design, size, duration This study was an analysis 120 Han Chinese men asthenoteratozoospermia by whole-exome sequencing（WES）, at Reproductive Medical Center Peking University Third Hospital between January 2018 2022.All procedures performed studies involving participants were accordance ethical standards institutional national research committees 1964 Helsinki declaration its later amendments or comparable standards. Participants/materials, setting, methods Real-time polymerase chain reaction (Q-PCR) western blot assays (WT) used investigate mRNA levels testes. Immunofluorescent on sections antibodies knockout mice generated CRISPR/Cas9 gene-editing. Computer-assisted sperm (CASA) fertility testing also carried out evaluate effect reproduction.TEX44 mutation patients using WES. Main results role chance found highest level Q-PCR WT. Immunohistochemical revealed located cytoplasm elongating spermatids exhibited specific flagellum manchette spermiogenesis. Tex44 presented no detectable difference testis-to-body weight ratios when compared wild-type mice. gross morphology shows reduction size after 12 weeks old. Tex44(-/-) males subfertile because abnormal movement reduced motility.Proportions motile progressive showing spermatozoa always 30–50% lower than controls CASA.Tex44-/- fertile despite significant motility. But average total number mouses born Tex44-/- decreased (P < 0.01). In addition, WES two novel frameshite point patients. Of these missense mutations, Fertility could rescued use intra-cytoplasmic injections (ICSIs). Limitations, reasons caution Additional need study, especially from only small Protein function limited. future investigations, larger sample should interaction proteins analyzed. Wider implications findings validated as spermatids-essential play important roles identification characterization enhances our understanding molecular differentiation provides insight into potential asthenozoospermia.These will provide guidance genetic counseling assisted reproduction treatments. Trial registration supported National Natural Science Foundation China (NO.81671513) Beijing (NO.7172236).