Paediatric Diseases Department, University Hospital of Split, Spinčićeva 1, 21 000 Split, Croatia.
Department of Anatomy, Histology and Embryology, University of Split School of Medicine, Šoltanska 2, 21 000 Split, Croatia.
Biomolecules. 2023 Feb 9;13(2):340. doi: 10.3390/biom13020340.
We aimed to investigate expression of the novel susceptibility genes for CAKUT, and , proposed by a systematic in silico approach, in developing and postnatal healthy human kidneys to provide information about their spatiotemporal expression pattern. We analyzed expression of their protein products by immunohistochemistry and immunofluorescence and quantified relative mRNA levels by RT-qPCR. Statistically significant differences in expression patterns were observed between certain developmental stages. Strong expression of DLG1 was observed in the developing kidney, with a gradual decrease from the first phase of kidney development (Ph1) until the third phase (Ph3), when most nephrons are formed; at later stages, the highest expression was observed in the tubules. KIF12 was highly expressed in the developing structures, especially in Ph1, with a gradual decrease until the postnatal phase, which would indicate a significant role in nephrogenesis. Co-localization of DLG1 and KIF12 was pronounced in Ph1, especially on the apical side of the tubular epithelial cells. Thereafter, their expression gradually became weaker and was only visible as punctate staining in Ph4. The direct association of with as control genes of normal kidney development may reveal their new functional aspect in renal tubular epithelial cells.
我们旨在研究通过系统的计算方法提出的 CAKUT 新型易感性基因和在发育和出生后健康人肾脏中的表达，为其时空表达模式提供信息。我们通过免疫组织化学和免疫荧光分析其蛋白产物的表达，并通过 RT-qPCR 定量相对 mRNA 水平。在某些发育阶段观察到表达模式存在统计学显著差异。DLG1 在发育中的肾脏中表达强烈，从肾脏发育的第一阶段（Ph1）逐渐减少到第三阶段（Ph3），此时大多数肾单位形成；在后期，在肾小管中观察到最高表达。KIF12 在发育结构中高度表达，尤其是在 Ph1 中，逐渐减少直到出生后阶段，这表明其在肾发生中具有重要作用。在 Ph1 中，DLG1 和 KIF12 的共定位明显，尤其是在肾小管上皮细胞的顶端侧。此后，它们的表达逐渐减弱，在 Ph4 中仅可见点状染色。作为正常肾脏发育的对照基因，与的直接关联可能揭示其在肾小管上皮细胞中的新功能方面。
