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

Abstract

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.

Keywords

EnteropathyBiologyGeneticsMutationImmunologyGeneDiabetes mellitusFOXP3Internal medicineEndocrinologyMedicineDiseaseImmune system

MeSH Terms

Amino Acid SequenceAnimal DiseasesAnimalsDNA Mutational AnalysisDNA-Binding ProteinsDiabetes MellitusDisease ModelsAnimalForkhead Transcription FactorsGenetic LinkageHumansInfantNewbornMiceMiceMutant StrainsMolecular Sequence DataMutationPolyendocrinopathiesAutoimmuneProtein-Losing EnteropathiesSequence AlignmentSyndromeX Chromosome

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Publication Info

Year: 2001
Type: article
Volume: 27
Issue: 1
Pages: 18-20
Citations: 1843
Access: Closed

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APA Style

                            
                                
                                    Robert S. Wildin, 
                                
                                    Fred Ramsdell, 
                                
                                    Jane Peake
                                
                                et al.
                            
                            (2001). 
                            X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. 
                            Nature Genetics
                            , 27
                            (1)
                            , 18-20.
                            https://doi.org/10.1038/83707
                        

Identifiers

DOI: 10.1038/83707
PMID: 11137992

Data Quality

Data completeness: 81%