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X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.

Nature genetics | Jan 11, 2001

To determine whether human X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome (IPEX; MIM 304930) is the genetic equivalent of the scurfy (sf) mouse, we sequenced the human ortholog (FOXP3) of the gene mutated in scurfy mice (Foxp3), in IPEX patients. 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.

Pubmed ID: 11137992 RIS Download

Mesh terms: Amino Acid Sequence | Animal Diseases | Animals | DNA Mutational Analysis | DNA-Binding Proteins | Diabetes Mellitus | Disease Models, Animal | Forkhead Transcription Factors | Genetic Linkage | Humans | Infant, Newborn | Mice | Mice, Mutant Strains | Molecular Sequence Data | Mutation | Polyendocrinopathies, Autoimmune | Protein-Losing Enteropathies | Sequence Alignment | Syndrome | X Chromosome

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