Ruvbl1的靶向缺失导致表皮发育严重缺陷和围产期死亡。

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

作者信息

Dafinger Claudia, Benzing Thomas, Dötsch Jörg, Schermer Bernhard, Liebau Max C

机构信息

Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 62, 50937, Cologne, Germany.

Department II of Internal Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.

出版信息

Mol Cell Pediatr. 2021 Feb 12;8(1):1. doi: 10.1186/s40348-021-00111-1.

DOI:10.1186/s40348-021-00111-1

PMID:33580312

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7881068/

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 (Ruvbl1K14:Cre) 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.

摘要

表皮发育是一个复杂的过程，涉及受调控的细胞增殖、分化以及由多个细胞信号网络严格控制的细胞死亡。在此，我们首次报道了将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联系起来。角质形成细胞特异性Ruvbl1基因敲除小鼠（Ruvbl1K14:Cre）表现出严重的表型，包括明显的表皮结构缺陷，导致功能性皮肤屏障丧失和围产期死亡。因此，Ruvbl1是新发现的小鼠分化表皮发育的关键因子。