X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.
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.
Wildin
R S
RS
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, USA. wildinr@ohsu.edu
Ramsdell
F
F
Peake
J
J
Faravelli
F
F
Casanova
J L
JL
Buist
N
N
Levy-Lahad
E
E
Mazzella
M
M
Goulet
O
O
Perroni
L
L
Bricarelli
F D
FD
Byrne
G
G
McEuen
M
M
Proll
S
S
Appleby
M
M
Brunkow
M E
ME
D000595:Amino Acid Sequence; D000820:Animal Diseases / Q000235:genetics*; D000818:Animals; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D003920:Diabetes Mellitus / Q000151:congenital* / Q000235:genetics*; D004195:Disease Models, Animal; D051858:Forkhead Transcription Factors; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D051379:Mice; D008817:Mice, Mutant Strains; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics*; D011504:Protein-Losing Enteropathies / Q000235:genetics*; D016415:Sequence Alignment; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics*
D004268:DNA-Binding Proteins; C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors; C498833:Foxp3 protein, mouse