2000 Fiscal Year Annual Research Report

ロリクリンの変異が角化細胞のアポトーシスに及ぼす影響

Research Project

Project/Area Number	11877138
Research Institution	Asahikawa Medical College
Principal Investigator	山本明美旭川医科大学, 医学部, 講師 (30241441)
Co-Investigator(Kenkyū-buntansha)	高橋英俊旭川医科大学, 医学部, 講師 (00216748)
Keywords	ロリクリン / ロリクリン角皮症 / アポトーシス / 核移行シグナル / Vohwinkel症候群 / TUNEL法
Research Abstract	ロリクリン角皮症の概念の確立辺縁帯の主成分ロリクリンの遺伝子異常による角化異常症は我々が発見した疾患であるが、本研究の期間中にも新しい家系を発見し(J Dermatol Sci,1999)、これらロリクリン遺伝子変異による角化症を「ロリクリン角皮症」と呼ぶことを提案した(Exp Dermatol,1998,Histol Histopathol,1998,J Dermatol Sci,1998)。ロリクリン角皮症における角化過程の解析プロフィラグリンのアミノ末端ドメインは辺縁帯前駆体と考えられていたが、我々は同ドメインが核内移行しこの核はapoptosisに特徴的な断片化DNAを含むことを発見した(Lab Invest 1998)。ロリクリン角皮症患者では顆粒層、角層の細胞の核は断片化DNAとプロフィラグリンアミノ末端ドメインを有していたため本症では角化という細胞死の頓挫の状態にあると考えられる。ついで、この遺伝子変異から予想される変異蛋白を検出する特異抗体を作成し、その局在を検討したことろ、変異蛋白は辺縁帯には移行せず、顆粒細胞、角質細胞のapoptoticな核に集積していることが明らかになった(J Invest Dermatol,2000)。

Research Products
(14 results)

All Other

All Publications (14 results)

[Publications] Ishida-Yamamoto A: "Antigen retrieval of loricrin epitopes at desmosomal areas of cornified cell envelopes : an immunoelectron microscopic analysis."Exp Dermatol. 8. 402-406 (1999)
[Publications] Ishida-Yamamoto A: "Electron microscopic in situ DNA nick end-labeling and combination with immunoelectron microscopy"J Histochem Cytochem. 47. 711-717 (1999)
[Publications] Tamai K: "Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa : positional effects of premature termination codon mutations on clinical severity"J Invest Dermatol. 112. 991-993 (1999)
[Publications] Ishida-Yamamoto A: "Programmed cell death in normal epidermis and loricrin keratoderma. Multiple functions of profilaggrin in keratinization"J Invest Dermatol Symposium Proceedings. 4. 145-149 (1999)
[Publications] Takahashi H: "Interferon-γ-dependent stimulation of human involucrin gene expression : STAT-1 protein activates involucrin promoter activity"Biochem J. 344. 797-802 (1999)
[Publications] Takahashi H: "Loricrin gene mutation in a Japanese patient of Vohwinkel's syndrome"J Dermatol Sci. 19. 44-47 (1999)
[Publications] Takahashi H: "Fas antigen modulates ultraviolet B (UVB) -induced apoptosis of SVHK cells : sequential activation of caspases 8,3, and 1 in the apoptotic process"Exp Cell Res. 249. 291-298 (1999)
[Publications] Ishida-Yamamoto A: "Mutant loricrin is not crosslinked into the cornified cell envelopes but is translocated into the nuclei in loricrin keratoderma"J Invest Dermatol. 115. 1095-1103 (2000)
[Publications] Ishida-Yamamoto A: "A case of erythrokeratodormia variabilis without mutations in connexin31"Br J Dermatol. 143. 1283-1287 (2000)
[Publications] Ishida-Yamamoto A: "Decreased deiminated keratin K1 in psoriatic hyperproliferative epidermis"J Invest Dermatol. 114. 701-705 (2000)
[Publications] Ishida-Yamamoto A: "Immunoelectron microscopy links molecules and morphology in the studies of keratinization"Eur J Dermatol. 10. 429-435 (2000)
[Publications] Takahashi H: "Copper, zinc-superoxide dismutase protects from ultraviolet B-induced apoptosis in SV40-transformed human keratinocytes : the protection is associated with the increased levels of antioxidant enzyme"J Dermatol Sci. 23. 12-21 (2000)
[Publications] Takahashi H: "Transcriptional factor AP-2γ increases human cystatin A gene transcription of keratinocytes"Biochem Biophys Res Commun. 278. 719-723 (2000)
[Publications] Takahashi H: "Cornified cell envelope formation is distinct from apoptosis in epidermal keratinocytes"J Dermatol Sci. 23. 161-169 (2000)

2000 Fiscal Year Annual Research Report

ロリクリンの変異が角化細胞のアポトーシスに及ぼす影響

Principal Investigator

山本 明美 旭川医科大学, 医学部, 講師 (30241441)

Research Products

[Publications] Ishida-Yamamoto A: "Antigen retrieval of loricrin epitopes at desmosomal areas of cornified cell envelopes : an immunoelectron microscopic analysis."Exp Dermatol. 8. 402-406 (1999)

[Publications] Ishida-Yamamoto A: "Electron microscopic in situ DNA nick end-labeling and combination with immunoelectron microscopy"J Histochem Cytochem. 47. 711-717 (1999)

[Publications] Tamai K: "Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa : positional effects of premature termination codon mutations on clinical severity"J Invest Dermatol. 112. 991-993 (1999)

[Publications] Ishida-Yamamoto A: "Programmed cell death in normal epidermis and loricrin keratoderma. Multiple functions of profilaggrin in keratinization"J Invest Dermatol Symposium Proceedings. 4. 145-149 (1999)

[Publications] Takahashi H: "Interferon-γ-dependent stimulation of human involucrin gene expression : STAT-1 protein activates involucrin promoter activity"Biochem J. 344. 797-802 (1999)

[Publications] Takahashi H: "Loricrin gene mutation in a Japanese patient of Vohwinkel's syndrome"J Dermatol Sci. 19. 44-47 (1999)

[Publications] Takahashi H: "Fas antigen modulates ultraviolet B (UVB) -induced apoptosis of SVHK cells : sequential activation of caspases 8,3, and 1 in the apoptotic process"Exp Cell Res. 249. 291-298 (1999)

[Publications] Ishida-Yamamoto A: "Mutant loricrin is not crosslinked into the cornified cell envelopes but is translocated into the nuclei in loricrin keratoderma"J Invest Dermatol. 115. 1095-1103 (2000)

[Publications] Ishida-Yamamoto A: "A case of erythrokeratodormia variabilis without mutations in connexin31"Br J Dermatol. 143. 1283-1287 (2000)

[Publications] Ishida-Yamamoto A: "Decreased deiminated keratin K1 in psoriatic hyperproliferative epidermis"J Invest Dermatol. 114. 701-705 (2000)

[Publications] Ishida-Yamamoto A: "Immunoelectron microscopy links molecules and morphology in the studies of keratinization"Eur J Dermatol. 10. 429-435 (2000)

[Publications] Takahashi H: "Copper, zinc-superoxide dismutase protects from ultraviolet B-induced apoptosis in SV40-transformed human keratinocytes : the protection is associated with the increased levels of antioxidant enzyme"J Dermatol Sci. 23. 12-21 (2000)

[Publications] Takahashi H: "Transcriptional factor AP-2γ increases human cystatin A gene transcription of keratinocytes"Biochem Biophys Res Commun. 278. 719-723 (2000)

[Publications] Takahashi H: "Cornified cell envelope formation is distinct from apoptosis in epidermal keratinocytes"J Dermatol Sci. 23. 161-169 (2000)

山本明美旭川医科大学, 医学部, 講師 (30241441)