A new Gsdma3 mutation affecting anagen phase of first hair cycle

Journal Article · Fri Aug 10 00:00:00 EDT 2007 · Biochemical and Biophysical Research Communications

DOI:https://doi.org/10.1016/j.bbrc.2007.05.209· OSTI ID:20991481

Tanaka, Shigekazu ^[1]; Tamura, Masaru ^[1]; Aoki, Aya ^[1]; Fujii, Tomoaki ^[1]; Komiyama, Hiromitsu ^[1]; Sagai, Tomoko ^[1]; Shiroishi, Toshihiko ^[2]

---

1. Mammalian Genetics Laboratory, Genetic Strains Research Center, National Institute of Genetics, 1111 Yata, Mishima, Shizuoka 411-8540 (Japan)
2. Mammalian Genetics Laboratory, Genetic Strains Research Center, National Institute of Genetics, 1111 Yata, Mishima, Shizuoka 411-8540 (Japan) and Department of Genetics, School of Life Science, Graduate University for Advanced Studies, 1111 Yata, Mishima, Shizuoka 411-8540 (Japan)

Recombination-induced mutation 3 (Rim3) is a spontaneous mouse mutation that exhibits dominant phenotype of hyperkeratosis and hair loss. Fine linkage analysis of Rim3 and sequencing revealed a novel single point mutation, G1124A leading to Ala348Thr, in Gsdma3 in chromosome 11. Transgenesis with BAC DNA harboring the Rim3-type Gsdma3 recaptured the Rim3 phenotype, providing direct evidence that Gsdma3 is the causative gene of Rim3. We examined the spatial expression of Gsdma3 and characterized the Rim3 phenotype in detail. Gsdma3 is expressed in differentiated epidermal cells in the skin, but not in the proliferating epidermal cells. Histological analysis of Rim3 mutant showed hyperplasia of the epidermal cells in the upper hair follicles and abnormal anagen phase at the first hair cycle. Furthermore, immunohistochemical analysis revealed hyperproliferation and misdifferentiation of the upper follicular epidermis in Rim3 mutant. These results suggest that Gsdma3 is involved in the proliferation and differentiation of epidermal stem cells.

• OSTI ID: 20991481
• Journal Information: Biochemical and Biophysical Research Communications, Vol. 359, Issue 4; Other Information: DOI: 10.1016/j.bbrc.2007.05.209; PII: S0006-291X(07)01174-6; Copyright (c) 2007 Elsevier Science B.V., Amsterdam, The Netherlands, All rights reserved; Country of input: International Atomic Energy Agency (IAEA); ISSN 0006-291X
• Country of Publication: United States
• Language: English

Related Subjects

60 APPLIED LIFE SCIENCES
CHROMOSOMES
DNA
EPIDERMIS
GENE MUTATIONS
GENES
HAIR
HAIR FOLLICLES
MUTANTS
PHENOTYPE
STEM CELLS
TRANSGENIC MICE