Journal
NATURE GENETICS
Volume 27, Issue 1, Pages 68-73Publisher
NATURE AMERICA INC
DOI: 10.1038/83784
Keywords
-
Categories
Ask authors/readers for more resources
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(1-4). 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(3,9). 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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available