Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2001-01

AUTHORS

Mary E. Brunkow, Eric W. Jeffery, Kathryn A. Hjerrild, Bryan Paeper, Lisa B. Clark, Sue-Ann Yasayko, J. Erby Wilkinson, David Galas, Steven F. Ziegler, Fred Ramsdell

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. 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. More... »

PAGES

68

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/83784

DOI

http://dx.doi.org/10.1038/83784

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1032693504

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11138001


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N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/83784'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/83784'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/83784'


 

This table displays all metadata directly associated to this object as RDF triples.

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