Runkel F, Marquardt A, Stoeger C, Kochmann E, Simon D, Kohnke B, Korthaus D, Wattler F, Fuchs H, Hrabé de Angelis M, Stumm G, Nehls M, Wattler S, Franz T, Augustin M
Department of Anatomy, Rheinische Friedrich-Wilhelms-Universität, Bonn, Germany.
Genomics. 2004 Nov;84(5):824-35. doi: 10.1016/j.ygeno.2004.07.003.
Reduced Coat 2 (Rco2) is an ENU-induced mutation affecting hair follicle morphogenesis by an abnormal and protracted catagen. We describe chromosomal mapping and molecular identification of the autosomal dominant Rco2 mutation. The Rco2 critical region on mouse chromosome 11 encompasses the alopecia loci, Bareskin (Bsk), Rex-denuded (Re(den)), Recombination induced mutation 3 (Rim3), and Defolliculated (Dfl). Recently, the gasdermin (Gsdm) gene was described as predominantly expressed in skin and gastric tissues. We provide evidence for a murine-specific gene cluster consisting of Gsdm and two closely related genes which we designate as Gsdm2 and Gsdm3. We show that Gsdm3 reflects a mutation hotspot and that Gsdm3 mutations cause alopecia in Rco2, Re(den), and Bsk mice. We infer a role of Gsdm3 during the catagen to telogen transition at the end of hair follicle morphogenesis and the formation of hair follicle-associated sebaceous glands.
减短被毛2（Rco2）是一种由ENU诱导的突变，通过异常且延长的退行期影响毛囊形态发生。我们描述了常染色体显性Rco2突变的染色体定位和分子鉴定。小鼠11号染色体上的Rco2关键区域包含脱发位点、裸皮（Bsk）、雷克斯脱毛（Re(den)）、重组诱导突变3（Rim3）和去毛囊（Dfl）。最近，gasdermin（Gsdm）基因被描述为主要在皮肤和胃组织中表达。我们提供了证据，证明存在一个由Gsdm以及两个我们命名为Gsdm2和Gsdm3的密切相关基因组成的小鼠特异性基因簇。我们表明Gsdm3是一个突变热点，并且Gsdm3突变会导致Rco2、Re(den)和Bsk小鼠出现脱发。我们推断Gsdm3在毛囊形态发生末期的退行期向休止期转变以及毛囊相关皮脂腺的形成过程中发挥作用。
