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PMID:19279310

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Citation

Ito, YA, Footz, TK, Berry, FB, Mirzayans, F, Yu, M, Khan, AO and Walter, MA (2009) Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia. Invest. Ophthalmol. Vis. Sci. 50:3573-9

Abstract

FOXC1 mutations result in Axenfeld-Rieger syndrome, a disorder characterized by a broad spectrum of malformations of the anterior segment of the eye and an elevated risk for glaucoma. A novel FOXC1 W152G mutation was identified in a patient with aniridia. Molecular analysis was conducted to determine the functional consequences of the FOXC1 W152G mutation.

Links

PubMed Online version:10.1167/iovs.08-3032

Keywords

Animals; Aniridia/genetics; Aryl Hydrocarbon Hydroxylases; COS Cells; Cell Culture Techniques; Cercopithecus aethiops; Cornea/abnormalities; Corneal Opacity/genetics; Cytochrome P-450 CYP1B1; Cytochrome P-450 Enzyme System/genetics; Electrophoretic Mobility Shift Assay; Eye Proteins/genetics; Fluorescent Antibody Technique, Indirect; Forkhead Transcription Factors/genetics; Gene Expression; Glaucoma/congenital; HeLa Cells; Homeodomain Proteins/genetics; Humans; Immunoblotting; Infant, Newborn; Male; Mutagenesis, Site-Directed; Mutation, Missense; PAX6 Transcription Factor; Paired Box Transcription Factors/genetics; Phenotype; Plasmids; Polymerase Chain Reaction; Repressor Proteins/genetics

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:FOXC1

located_in

GO:0005634: nucleus

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:FOXC1

enables

GO:0000976: transcription regulatory region sequence-specific DNA binding

ECO:0000314: direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

HUMAN:FOXC1

part_of

GO:0005634: nucleus

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:FOXC1

enables

GO:0044212: transcription regulatory region DNA binding

ECO:0000314: direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

HUMAN:FOXC1

enables

GO:0003700: DNA-binding transcription factor activity

ECO:0000315: mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

HUMAN:FOXC1

involved_in

GO:0045944: positive regulation of transcription by RNA polymerase II

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

Notes

See also

References

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