Institut Cochin, Université de Paris, INSERM, CNRS, F-75014 Paris, France.
Mouse Genetics Laboratory, Institut Pasteur, F-75015 Paris, France.
Int J Mol Sci. 2020 Nov 12;21(22):8506. doi: 10.3390/ijms21228506.
Male fertility disorders often have their origin in disturbed spermatogenesis, which can be induced by genetic factors. In this study, we used interspecific recombinant congenic mouse strains (IRCS) to identify genes responsible for male infertility. Using ultrasonography, in vivo and in vitro fertilization (IVF) and electron microscopy, the phenotyping of several IRCS carrying mouse chromosome 1 segments of origin revealed a decrease in the ability of sperm to fertilize. This teratozoospermia included the abnormal anchoring of the acrosome to the nucleus and a persistence of residual bodies at the level of epididymal sperm midpiece. We identified a quantitative trait locus (QTL) responsible for these phenotypes and we have proposed a short list of candidate genes specifically expressed in spermatids. The future functional validation of candidate genes should allow the identification of new genes and mechanisms involved in male infertility.
男性生育障碍通常源于精子发生紊乱，这可能是由遗传因素引起的。在这项研究中，我们使用种间重组近交系（IRCS）来鉴定导致男性不育的基因。通过超声检查、体内和体外受精（IVF）以及电子显微镜，对携带源自小鼠染色体 1 片段的几个 IRCS 的表型进行分析，发现精子受精能力下降。这种畸形精子症包括顶体与核的异常锚定，以及附睾精子中段残留体的持续存在。我们鉴定了一个与这些表型相关的数量性状基因座（QTL），并提出了一个候选基因的简短列表，这些候选基因特异性地在精母细胞中表达。候选基因的未来功能验证应能鉴定出参与男性不育的新基因和机制。
