Claudia Dafinger, Thomas Benzing, Jörg Dötsch, Bernhard Schermer, Max C Liebau
{"title":"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。","authors":"Claudia Dafinger, Thomas Benzing, Jörg Dötsch, Bernhard Schermer, Max C Liebau","doi":"10.1186/s40348-021-00111-1","DOIUrl":null,"url":null,"abstract":"<p><p>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<sup>fl/fl</sup>K14:Cre<sup>tg</sup>) 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.</p>","PeriodicalId":74215,"journal":{"name":"Molecular and cellular pediatrics","volume":"8 1","pages":"1"},"PeriodicalIF":2.4000,"publicationDate":"2021-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40348-021-00111-1","citationCount":"0","resultStr":"{\"title\":\"Targeted deletion of Ruvbl1 results in severe defects of epidermal development and perinatal mortality.\",\"authors\":\"Claudia Dafinger, Thomas Benzing, Jörg Dötsch, Bernhard Schermer, Max C Liebau\",\"doi\":\"10.1186/s40348-021-00111-1\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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<sup>fl/fl</sup>K14:Cre<sup>tg</sup>) 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.</p>\",\"PeriodicalId\":74215,\"journal\":{\"name\":\"Molecular and cellular pediatrics\",\"volume\":\"8 1\",\"pages\":\"1\"},\"PeriodicalIF\":2.4000,\"publicationDate\":\"2021-02-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1186/s40348-021-00111-1\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular and cellular pediatrics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1186/s40348-021-00111-1\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular and cellular pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s40348-021-00111-1","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PEDIATRICS","Score":null,"Total":0}
Targeted deletion of Ruvbl1 results in severe defects of epidermal development and perinatal mortality.
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.