- Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse
M E Brunkow
Celltech Chiroscience, Inc, Bothell, Washington, USA
Nat Genet 27:68-73. 2001
..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...
- The amount of scurfin protein determines peripheral T cell number and responsiveness
Celltech R and D, Inc, Bothell, WA 98021, USA
J Immunol 167:6312-20. 2001
..The data indicate a critical role for the Foxp3 gene product in the function of the immune system, with both the number and functionality of peripheral T cells under the aegis of the scurfin protein...
- Cellular and molecular characterization of the scurfy mouse mutant
L B Clark
Chiroscience R and D, Inc, Seattle, WA 98021, USA
J Immunol 162:2546-54. 1999
..One interpretation of our data would suggest that the scurfy mutation results in a defect, which interferes with the normal down-regulation of T cell activation...
- Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein
M E Brunkow
Celltech Inc, Bothell, WA 98021, USA
Am J Hum Genet 68:577-89. 2001
- X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
R S Wildin
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, USA
Nat Genet 27:18-20. 2001
..We found four non-polymorphic mutations. Each mutation affects the forkhead/winged-helix domain of the scurfin protein, indicating that the mutations may disrupt critical DNA interactions...
- The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
C L Bennett
Division of Genetics and Development, Department of Pediatrics, University of Washington, Seattle, USA
Nat Genet 27:20-1. 2001
..Recent linkage analysis studies mapped the gene mutated in IPEX to an interval of 17-20-cM at Xp11. 23-Xq13.3...
- Parental imprinting of the H19 and Igf2 genes in the mouse
S M Tilghman
Howard Hughes Medical Institute, Princeton University, New Jersey 08544
Cold Spring Harb Symp Quant Biol 58:287-95. 1993
- A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome
C L Bennett
Division of Genetics and Development, Department of Pediatrics, University of Washington School of Medicine, Box 356320, Seattle, WA 98195, USA
Immunogenetics 53:435-9. 2001
..We suggest that this mutation is causal of IPEX in this family by a mechanism of nonspecific degradation of the FOXP3 gene message...