The MVD gene mutations are identified in porokeratosis, which is considered a skin-specific autoinflammatory keratinization disease. However, the biological function of MVD gene remains largely unknown. Therefore, we analyzed the function of mvda gene, orthologous to the human MVD gene, in developing zebrafish. Morpholino antisense oligonucleotide technique was used to generate mvda loss-of-function phenotypes. Knockdown of mvda was confirmed by RT-PCR and Sanger sequencing. Scanning and transmission electron microscopy were performed to analyze the morphology of the epidermis. Angiogenesis study was presented using the Tg(fli1a:EGFP)y1 transgenic strain. In addition, acridine orange staining was used to examine the apoptotic cells in vivo. As expected, the mvda morphants showed abnormal morphology of the epidermis. Moreover, we observed ectopic sprouts in trunk angiogenesis and impaired formation of the caudal vein plexus in the mvda-deficient zebrafish. Besides, increased apoptosis was found throughout the tail, heart, and eyes in mvda zebrafish morphants. These findings indicated the essential role of mvda in the early development of zebrafish. This was the first in vivo knockdown study of the zebrafish mvda gene, which might offer insight into the biological function of the human MVD gene.

中文翻译：

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斑马鱼早期发育需要Mvda

MVD 基因突变在汗孔角化病中被发现，汗孔角化病被认为是一种皮肤特异性自身炎症性角化病。然而，MVD基因的生物学功能在很大程度上仍然未知。因此，我们分析了与人类 MVD 基因直系同源的 mvda 基因在斑马鱼发育中的功能。Morpholino 反义寡核苷酸技术用于产生 mvda 功能丧失表型。通过 RT-PCR 和 Sanger 测序证实了 mvda 的敲低。进行扫描和透射电子显微镜以分析表皮的形态。使用 Tg(fli1a:EGFP)y1 转基因菌株进行血管生成研究。此外，a啶橙染色用于检查体内的凋亡细胞。正如预期的那样，mvda morphant 表现出异常的表皮形态。而且，我们在缺乏 mvda 的斑马鱼中观察到躯干血管生成中的异位芽和尾静脉丛的形成受损。此外，在 mvda 斑马鱼 morphant 的尾部、心脏和眼睛中发现细胞凋亡增加。这些发现表明 mvda 在斑马鱼早期发育中的重要作用。这是斑马鱼 mvda 基因的第一次体内敲低研究，这可能有助于深入了解人类 MVD 基因的生物学功能。