Genetic analysis of hypohidrotic ectodermal dysplasia

少汗性外胚层发育不良的遗传分析

• 批准号: 12670829
• 负责人: YOTSUMOTO Shinichi
• 金额: $ 2.18万
• 依托单位: Kagoshima University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2000
• 资助国家: 日本
• 起止时间: 2000 至 2001
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-12670829/
• 关键词: ectodermal dysplasia; DNA; ED1; skin; ectodysplasin; tumor necrosis factor; furin; hair; ED1

X-linked hypohidrotic ectodermal dysplasia (XLHED; OMIM 305100) is characterized by sparse hair, abnormal teeth and decreased sweating due to abnormal development of the sweat glands. Mutations in the ED1 gene, which encodes ectodysplasin-A (EDA), are responsible for XLHED. EDA, a ligand for the EDA receptor, plays an important role in epidermal morphogenesis. We identified ED1 mutations including three novel mutations by sequencing genomic DNAs from eight unrelated Japanese XLHED families. Data from all reported mutations reveal that codon 156 in the furin subdomain is the most frequent site of change in EDA.

X-linked hypohidrotic ectodermal dysplasia （XLHED; OMIM 305100）以毛发稀疏、牙齿异常、汗腺发育异常导致出汗减少为特征。编码外胞质异常蛋白a （EDA）的ED1基因突变是导致XLHED的原因。EDA是EDA受体的配体，在表皮形态发生中起重要作用。通过对8个不相关的日本XLHED家族的基因组dna测序，我们鉴定出了ED1突变，包括3个新的突变。所有报道的突变数据显示，furin亚结构域的密码子156是EDA中最常见的变化位点。

项目成果

Hashiguchi, T., Yotsumoto, S., Shimada, H., Terasaki, K., et al.: "A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2"J. Invest. Dermatol. (in press).

Hashiguchi, T.、Yotsumoto, S.、Shimada, H.、Terasaki, K. 等人：“日本先天性厚甲症 2 型病例中角蛋白 17 基因的新型点突变”J.

Yotsumoto, S., Shimada, S., Terasaki, K., Taketani, S., et al.: "A novel a(-4)-to-g acceptor splice site mutation leads to three bases insertion in ferrochelatase mRNA in a patient with erythropoietic"J. Invest. Dermatol.. 117. 159-161 (2001)

Yotsumoto, S.、Shimada, S.、Terasaki, K.、Taketani, S.等人：“一种新型的 a(-4)-to-g 受体剪接位点突变导致在亚铁螯合酶 mRNA 中插入三个碱基。

Hashiguchi,T., Yotsumoto,S., Shimada,H., Terasaki,K., Setoyama,M., Kobayashi,K., Saheki,T. and Kanzaki,T.: "A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2"J. Invest. Dermatol.. 118. 545-547 (2002)

桥口，T.，四本，S.，岛田，H.，寺崎，K.，濑户山，M.，小林，K.，佐希木，T.

Hashiguchi, T., Yotsumoto, S., Shimada, H., Terasaki, K., et al.: "A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2"J. Invest. Dermatol.. 118. 545-547 (2002)

Hashiguchi, T.、Yotsumoto, S.、Shimada, H.、Terasaki, K. 等人：“日本先天性厚甲症 2 型病例中角蛋白 17 基因的新型点突变”J.

Hashiguchi, T., Yotsumoto, S., Kanzaki, T.: "Mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia"Exp. Dermatol.. (in press).

Hashiguchi, T.、Yotsumoto, S.、Kanzaki, T.：“X 连锁少汗性外胚层发育不良日本家族中 ED1 基因的突变”Exp。