| Project/Area Number |
12670829
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Single-year Grants |
|---|
| Section | 一般 |
|---|
| Research Field |
Dermatology
|
|---|
| Research Institution | Kagoshima University |
|---|
Principal Investigator |
YOTSUMOTO Shinichi Kagoshima University, Faculty of Medicine, Assistant Professor, 医学部・附属病院, 講師 (70244241)
|
|---|
| Project Period (FY) |
2000 – 2001
|
| Project Status |
Completed (Fiscal Year 2001)
|
| Budget Amount *help |
¥3,400,000 (Direct Cost: ¥3,400,000)
Fiscal Year 2001: ¥1,400,000 (Direct Cost: ¥1,400,000)
Fiscal Year 2000: ¥2,000,000 (Direct Cost: ¥2,000,000)
|
|---|
| Keywords | ectodermal dysplasia / DNA / ED1 / skin / ectodysplasin / tumor necrosis factor / furin / hair / ED1 |
|---|
| Research Abstract |
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.
|
