| First Author | Brunkow ME | Year | 2001 |
| Journal | Nat Genet | Volume | 27 |
| Issue | 1 | Pages | 68-73 |
| PubMed ID | 11138001 | Mgi Jnum | J:66695 |
| Mgi Id | MGI:1928998 | Doi | 10.1038/83784 |
| Citation | Brunkow ME, et al. (2001) Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. Nat Genet 27(1):68-73 |
| abstractText | Scurfy (sf) is an X-linked recessive mouse mutant resulting in lethality in hemizygous males 16-25 days after birth, and is characterized by overproliferation of CD4+CD8- T lymphocytes, extensive multiorgan infiltration and elevation of numerous cytokines. Similar to animals that lack expression of either Ctla-4 (refs. 5,6) or Tgf-beta (refs. 7,8), the pathology observed in sf mice seems to result from an inability to properly regulate CD4+CD8- T-cell activity. Here we identify the gene defective in sf mice by combining high-resolution genetic and physical mapping with large-scale sequence analysis. The protein encoded by this gene (designated Foxp3) is a new member of the forkhead/winged-helix family of transcriptional regulators and is highly conserved in humans. In sf mice, a frameshift mutation results in a product lacking the forkhead domain. Genetic complementation demonstrates that the protein product of Foxp3, scurfin, is essential for normal immune homeostasis. |
