| Autor: |
Brunkow ME; Celltech Chiroscience, Inc., Bothell, Washington, USA. marybrunkow@chiroscience.com, Jeffery EW, Hjerrild KA, Paeper B, Clark LB, Yasayko SA, Wilkinson JE, Galas D, Ziegler SF, Ramsdell F |
| Jazyk: |
angličtina |
| Zdroj: |
Nature genetics [Nat Genet] 2001 Jan; Vol. 27 (1), pp. 68-73. |
| DOI: |
10.1038/83784 |
| Abstrakt: |
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 or Tgf-beta, 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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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