Shawlot William, Vazquez-Chantada Mercedes, Wallingford John B, Finnell Richard H
Department of Nutritional Sciences, The Dell Pediatric Research Institute, The University of Texas at Austin, Texas.
Department of Molecular Biosciences, The University of Texas at Austin, Texas.
Genesis. 2015 Sep;53(9):604-611. doi: 10.1002/dvg.22880. Epub 2015 Aug 18.
RFX transcription factors are key regulators of ciliogenesis in vertebrates. In Xenopus and zebrafish embryos, knockdown of Rfx2 causes defects in neural tube closure and in left-right axis patterning. To determine the essential role of the Rfx2 gene in mammalian development, we generated Rfx2-deficient mice using an embryonic stem cell clone containing a lacZ gene trap reporter inserted into the first intron of the Rfx2 gene. We found that the Rfx2 lacZ reporter is expressed in ciliated tissues during mouse development including the node, the floor plate and the dorsal neural tube. However, mice homozygous for the Rfx2 gene trap mutation did not have defects in neural tube closure or in organ situs. The gene trap insertion appears to create a null allele as Rfx2 mRNA was not detected in Rfx2 embryos. Although Rfx2-deficient mice do not have an obvious embryonic phenotype, we found that Rfx2 males are infertile because of a defect in spermatid maturation at or before the round and elongating spermatid stage. Our results indicate that Rfx2 is not essential for embryonic development in the mouse but is required for spermatogenesis. genesis 53:604-611, 2015. © 2015 Wiley Periodicals, Inc.
RFX转录因子是脊椎动物纤毛发生的关键调节因子。在非洲爪蟾和斑马鱼胚胎中,Rfx2基因敲低会导致神经管闭合和左右轴模式形成出现缺陷。为了确定Rfx2基因在哺乳动物发育中的重要作用,我们利用一个胚胎干细胞克隆构建了Rfx2基因缺陷小鼠,该克隆包含一个插入到Rfx2基因第一内含子中的lacZ基因捕获报告基因。我们发现,Rfx2 lacZ报告基因在小鼠发育过程中的纤毛组织中表达,包括节点、底板和背侧神经管。然而,Rfx2基因捕获突变的纯合小鼠在神经管闭合或器官定位方面没有缺陷。由于在Rfx2基因敲除胚胎中未检测到Rfx2 mRNA,基因捕获插入似乎产生了一个无效等位基因。尽管Rfx2基因缺陷小鼠没有明显的胚胎表型,但我们发现Rfx2基因缺陷的雄性小鼠不育,原因是在圆形和伸长精子细胞阶段或之前精子细胞成熟存在缺陷。我们的结果表明,Rfx2对小鼠胚胎发育不是必需的,但对精子发生是必需的。《发生学》53:604 - 611,2015年。© 2015威利期刊公司