Mutations in gasdermin 3 cause aberrant differentiation of the hair follicle and sebaceous gland

Lunny, Declan P., Weed, Erica, Nolan, Patrick M., Marquardt, Andreas, Augustin, Martin and Porter, Rebecca ORCID: https://orcid.org/0000-0001-6748-0916 2005. Mutations in gasdermin 3 cause aberrant differentiation of the hair follicle and sebaceous gland. Journal of Investigative Dermatology 124 (3) , pp. 615-21. 10.1111/j.0022-202X.2005.23623.x

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Abstract

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. Gsdm3Dfl is a B2 insertion near the 3' splice site of exon 7 and Gsdm3Fgn 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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	Acne ; Esophagus ; Hair cycle ; Hair loss ; Stomach
ISSN:	1523-1747
Last Modified:	17 Oct 2022 08:32
URI:	https://orca.cardiff.ac.uk/id/eprint/408

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