Identification of a New QTL Region on Mouse Chromosome 1 Responsible for Male Hypofertility: Phenotype Characterization and Candidate Genes.
Identification of a New QTL Region on Mouse Chromosome 1 Responsible for Male Hypofertility: Phenotype Characterization and Candidate Genes.
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DOI：
10.3390/ijms21228506
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发表时间：
2020-11-12
影响因子：
5.6
通讯作者：
Ziyyat A
中科院分区：
文献类型：
--
作者：
Vatin M;Girault MS;Firlej V;Marchiol C;Ialy-Radio C;Montagutelli X;Vaiman D;Barbaux S;Ziyyat A
男性生育障碍通常起源于精子发生障碍，这可能是由遗传因素引起的。在这项研究中，我们使用种间重组同源小鼠品系(IRCS)来识别与男性不育有关的基因。利用超声、体内受精和体外受精(IVF)和电子显微镜，对携带小鼠起源的小鼠1号染色体片段的几个IRCS进行表型分析，结果显示精子受精能力下降。这种畸形精子症包括顶体与细胞核的异常锚定和附睾精子中段水平的残留体。我们确定了一个负责这些表型的数量性状基因座(QTL)，并提出了一系列在精子细胞中特异表达的候选基因。未来候选基因的功能验证应该能够识别与男性不育有关的新基因和机制。
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 Mus spretus 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.
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