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Titolo:
Disruption of a new forkhead/winged-helix protein, scurfin, results in thefatal lymphoproliferative disorder of the scurfy mouse
Autore:
Brunkow, ME; Jeffery, EW; Hjerrild, KA; Paeper, B; Clark, LB; Yasayko, SA; Wilkinson, JE; Galas, D; Ziegler, SF; Ramsdell, F;
Indirizzi:
Celltech Chirosci Inc, Bothell, WA USA Celltech Chirosci Inc Bothell WA USA ltech Chirosci Inc, Bothell, WA USA Oak Ridge Natl Lab, Oak Ridge, TN USA Oak Ridge Natl Lab Oak Ridge TN USA ak Ridge Natl Lab, Oak Ridge, TN USA Keck Grad Inst Appl Life Sci, Claremont, CA USA Keck Grad Inst Appl Life Sci Claremont CA USA ife Sci, Claremont, CA USA Virginia Mason Res Ctr, Seattle, WA 98101 USA Virginia Mason Res Ctr Seattle WA USA 98101 es Ctr, Seattle, WA 98101 USA
Titolo Testata:
NATURE GENETICS
fascicolo: 1, volume: 27, anno: 2001,
pagine: 68 - 73
SICI:
1061-4036(200101)27:1<68:DOANFP>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
STATIONARY NIGHT BLINDNESS; SF MOUSE; X-CHROMOSOME; DNA-BINDING; T-CELLS; GENE; MUTATION; DISEASE; EXPRESSION; MUTANT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Brunkow, ME Celltech Chirosci Inc, Bothell, WA USA Celltech Chirosci Inc Bothell WA USA ci Inc, Bothell, WA USA
Citazione:
M.E. Brunkow et al., "Disruption of a new forkhead/winged-helix protein, scurfin, results in thefatal lymphoproliferative disorder of the scurfy mouse", NAT GENET, 27(1), 2001, pp. 68-73

Abstract

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 normalimmune homeostasis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/11/20 alle ore 04:23:47