Targeted deletion of Ruvbl1 results in severe defects of epidermal development and perinatal mortality.

IF 2.4 Q1 PEDIATRICS Molecular and cellular pediatrics Pub Date : 2021-02-12 DOI:10.1186/s40348-021-00111-1
Claudia Dafinger, Thomas Benzing, Jörg Dötsch, Bernhard Schermer, Max C Liebau
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Abstract

Epidermal development is a complex process of regulated cellular proliferation, differentiation, and tightly controlled cell death involving multiple cellular signaling networks. Here, we report a first description linking the AAA+ (ATPases associated with various cellular activities) superfamily protein Ruvbl1 to mammalian epidermal development. Keratinocyte-specific Ruvbl1 knockout mice (Ruvbl1fl/flK14:Cretg) show a severe phenotype including dramatic structural epidermal defects resulting in the loss of the functional skin barrier and perinatal death. Thus, Ruvbl1 is a newly identified essential player for the development of differentiated epidermis in mice.

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Ruvbl1的靶向缺失会导致严重的表皮发育缺陷和围产期死亡率。
表皮发育是一个复杂的调控细胞增殖、分化和严格控制细胞死亡的过程,涉及多个细胞信号网络。在这里,我们首次报道了AAA+(与各种细胞活动相关的atp酶)超家族蛋白Ruvbl1与哺乳动物表皮发育的联系。角化细胞特异性Ruvbl1敲除小鼠(Ruvbl1fl/flK14:Cretg)表现出严重的表型,包括显著的结构性表皮缺陷,导致功能性皮肤屏障的丧失和围产期死亡。因此,Ruvbl1是新发现的小鼠表皮分化发育的重要参与者。
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