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PMID: 11137992 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

Nature genetics ·Vol. 27 ·No. 1 ·2001-01-00 ·Pages 18-20

Wildin RS, Ramsdell F, Peake J, Faravelli F, Casanova JL, Buist N, Levy-Lahad E, Mazzella M, Goulet O, Perroni L, Bricarelli FD, Byrne G, McEuen M, Proll S, Appleby M, Brunkow ME

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.

MeSH Terms

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

Chemicals

DNA-Binding Proteins FOXP3 protein, human Forkhead Transcription Factors Foxp3 protein, mouse

Authors & Affiliations

16 authors, click to expand affiliations / ORCID

Wildin R S

Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, USA. [email protected]

Ramsdell F

Peake J

Faravelli F

Casanova J L

Buist N

Levy-Lahad E

Mazzella M

Goulet O

Perroni L

Bricarelli F D

Byrne G

McEuen M

Proll S

Appleby M

Brunkow M E

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/83707

[email protected]

Published

2001-01-00

Pages

18-20

Language

English

Region

United States

NLM ID

9216904

Subset

Grants

Telethon · C.42 · Italy

Databases

GENBANK

AF235097, AF277993

External Links

PubMed source DOI: 10.1038/83707 View journal details

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

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