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新型基因 apnoia 调控果蝇气管管腔大小。

The novel gene apnoia regulates Drosophila tracheal tube size.

机构信息

Department of Biological Sciences, Oakland University, Rochester, Michigan.

出版信息

Dev Dyn. 2019 Jun;248(6):477-487. doi: 10.1002/dvdy.29. Epub 2019 Apr 8.

Abstract

BACKGROUND

Distinct tube size is critical for the function of human tubular organs such as the lung, vascular system, and kidney. Aberrant tube sizes can lead to devastating human illnesses, including polycystic kidney disease. The Drosophila trachea provides a premier genetic system to investigate the fundamental mechanisms that regulate tube size.

RESULTS

Here we describe the function of a novel gene, apnoia, in tube-size regulation. apn encodes an apical membrane protein, Apnoia (Apn), with three helical transmembrane domains. Loss-of-function apn mutants show shorter-tube and air-filling defects in larval trachea, whereas there are no obvious defects in embryonic trachea. Conversely, overexpression of apn in trachea leads to significant tube over-elongation. We analyzed apical luminal matrix and cell polarity in these longer tubes. It is interesting to note that we observed normal establishment of cell polarity, whereas all luminal matrix components are significantly reduced. In addition, we observed that some matrix components are localized in cytoplasmic vesicles, suggesting secretion defects in apn overexpressing trachea.

CONCLUSION

Taken together, these results strongly suggest the possibility that apn is directly or indirectly involved in vesicular trafficking to regulate tube size.

摘要

背景

不同的管腔大小对于人类管状器官的功能至关重要,如肺、血管系统和肾脏。异常的管腔大小可能导致严重的人类疾病,包括多囊肾病。果蝇气管为研究调节管腔大小的基本机制提供了一个卓越的遗传系统。

结果

在这里,我们描述了一个新基因 apnoia 在管腔大小调节中的功能。apn 编码一种顶端膜蛋白 Apnoia(Apn),具有三个螺旋跨膜结构域。apn 功能丧失突变体在幼虫气管中表现出管腔变短和空气填充缺陷,而在胚胎气管中没有明显缺陷。相反,apn 在气管中的过度表达导致管腔显著过度伸长。我们分析了这些较长管腔中的顶端腔基质和细胞极性。有趣的是,我们观察到细胞极性的正常建立,而所有的腔基质成分都显著减少。此外,我们观察到一些基质成分定位于细胞质小泡中,这表明 apn 过表达气管中的分泌缺陷。

结论

综上所述,这些结果强烈表明 apn 可能直接或间接地参与了囊泡运输以调节管腔大小。

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