The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia
| Autor: | Muhammad Wajid, Franz Rüschendorf, Väinö K Hopsu-Havu, Yoshiyuki Ishii, Claire Sinclair, Celia Moss, Rosemarie Watson, Edel A. O'Toole, Diana C. Blaydon, H Unsworth, Nicholas Tidman, David P. Kelsell, Muy-Teck Teh, Angela M. Christiano, D. De Berker |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Molecular Sequence Data
Nails Malformed Mice Transgenic Biology medicine.disease_cause Compound heterozygosity Mice Genetics Anonychia medicine Animals Humans Amino Acid Sequence skin and connective tissue diseases RSPO1 Gene RSPO2 Mutation integumentary system Sequence Homology Amino Acid Wnt signaling pathway medicine.disease Phenotype Wnt Proteins Thrombospondins Signal Transduction |
| Zdroj: | Nature genetics. 38(11) |
| ISSN: | 1061-4036 |
| Popis: | Anonychia and hyponychia congenita (OMIM 206800) are rare autosomal recessive conditions in which the only presenting phenotype is the absence or severe hypoplasia of all fingernails and toenails. After determining linkage to chromosome 20p13, we identified homozygous or compound heterozygous mutations in the gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, in eight affected families. Rspo4 expression was specifically localized to developing mouse nail mesenchyme at embryonic day 15.5, suggesting a crucial role in nail morphogenesis. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|