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

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

doi:10.1186/s40348-021-00111-1

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

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

Authors

Claudia Dafinger^{1

2

3}, Thomas Benzing^{2

3

4

5}, Jörg Dötsch¹, Bernhard Schermer^{2

3

4

5}, Max C Liebau^{6

7

8}

Affiliations

¹ Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 62, 50937, Cologne, Germany.
² Department II of Internal Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
³ CECAD, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
⁴ Systems Biology of Ageing Cologne, University of Cologne, Cologne, Germany.
⁵ Center for Molecular Medicine, University of Cologne, Cologne, Germany.
⁶ Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 62, 50937, Cologne, Germany. [email protected].
⁷ Department II of Internal Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany. [email protected].
⁸ Center for Molecular Medicine, University of Cologne, Cologne, Germany. [email protected].

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 (Ruvbl1^fl/flK14:Cre^tg) 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.

Abstract

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