Mutations in gasdermin 3 cause aberrant differentiation of the hair follicle and sebaceous gland
Mutations in gasdermin 3 cause aberrant differentiation of the hair follicle and sebaceous gland
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DOI：
10.1111/j.0022-202x.2005.23623.x
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发表时间：
2005-03-01
影响因子：
6.5
通讯作者：
Porter, RM
中科院分区：
文献类型：
--
作者：
Lunny, DP;Weed, E;Porter, RM
去毛囊化（Dfl）是具有毛发损失表型的自发小鼠突变体，其包括改变的皮脂腺分化、短毛干、毛发周期的异常退化期阶段和最终的毛囊损失。最近，在化学诱变诱导突变的表型筛选过程中发现了具有相同表型的类似突变体finnegan（Fgn）。finnegan和deflicholulated的表型的基因已被映射到11号染色体，在这里，我们表明，这两个小鼠港gasdermin 3（Gsdm3），一个未知功能的基因突变。Gsdm3（Dfl）是外显子7的3'剪接位点附近的B2插入，Gsdm3（Fgn）是点突变T278P。为了研究gasdermin基因家族的作用，产生了与所有三种小鼠gasdermin和人gasdermin高度同源的肽的抗血清。免疫组化分析表明，gasdermins的细胞在上表皮，分化的内根鞘和毛干和最成熟的皮脂腺和包皮，睑板，耵聍腺和肛门腺的皮脂腺细胞的分化的高级阶段的具体表达。这种表达模式表明gasdermins在表皮及其附属物的分化中的作用。
Defolliculated (Dfl) is a spontaneous mouse mutant with a hair-loss phenotype that includes altered sebaceous gland differentiation, short hair shafts, aberrant catagen stage of the hair cycle, and eventual loss of the hair follicle. Recently a similar mutant, finnegan (Fgn), with an identical phenotype was discovered during a phenotypic screen for mutations induced by chemical mutagenesis. The gene underlying the phenotype of both finnegan and defolliculated has been mapped to chromosome 11 and here we show that both mice harbor mutations in gasdermin 3 (Gsdm3), a gene of unknown function. Gsdm3(Dfl) is a B2 insertion near the 3' splice site of exon 7 and Gsdm3(Fgn) is a point mutation T278P. To investigate the role of the gasdermin gene family an antiserum was raised to a peptide highly homologous to all three mouse gasdermins and human gasdermin. Immunohistochemical analysis revealed that gasdermins are expressed specifically in cells at advanced stages of differentiation in the upper epidermis, the differentiating inner root sheath and hair shaft and in the most mature sebocytes of the sebaceous gland and preputial, meibomium, ceruminous gland, and anal glands. This expression pattern suggests a role for gasdermins in differentiation of the epidermis and its appendages.