The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid defects, but both types map to chromosome 3q23. We have positionally cloned a novel, putative winged helix/forkhead transcription factor...

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Bibliographic Details
Published in:Nature genetics Vol. 27; no. 2; pp. 159 - 166
Main Authors: Crisponi, Laura, Deiana, Manila, Loi, Angela, Chiappe, Francesca, Uda, Manuela, Amati, Patrizia, Bisceglia, Luigi, Zelante, Leopoldo, Nagaraja, Ramaiah, Porcu, Susanna, Serafina Ristaldi, M., Marzella, Rosalia, Rocchi, Mariano, Nicolino, Marc, Lienhardt-Roussie, Anne, Nivelon, Annie, Verloes, Alain, Schlessinger, David, Gasparini, Paolo, Bonneau, Dominique, Cao, Antonio, Pilia, Giuseppe
Format: Journal Article
Language:English
Published: New York Nature Publishing Group US 01.02.2001
Nature Publishing Group
Subjects:
Abnormalities, Multiple - genetics
Adult
Agriculture
Amino Acid Sequence
Animal Genetics and Genomics
Animals
Artificial chromosomes
Base Sequence
Biological and medical sciences
Biomedical and Life Sciences
Biomedicine
Blepharophimosis - genetics
blepharophimosis syndrome
blepharophimosis/ptosis/epicanthus inversus
Blepharoptosis - genetics
Cancer Research
Capra
Care and treatment
Child
chromosome 3
Chromosome Segregation
Chromosomes, Human, Pair 3
Cloning
Codon, Nonsense
DNA-Binding Proteins - genetics
Eyelid Diseases - genetics
Eyelids - embryology
Female
Forkhead Box Protein L2
Forkhead Transcription Factors
FOXL2 gene
Gene Duplication
Gene Function
Gene mutations
Genes
Genetic aspects
Genetics
Health aspects
Human Genetics
Humans
Identification and classification
Infertility
Male
Males
Malformations of the eye
Medical sciences
Mice
Molecular Sequence Data
Mutation
Nose Diseases - genetics
Ophthalmology
Ovaries
Ovary - embryology
Pathogenesis
Patients
Pedigree
polled/intersex syndrome
Proteins
Proton-Translocating ATPases
Publishing
Risk factors
Sequence Homology, Amino Acid
Syndrome
Transcription factors
Transcription Factors - genetics
Italy
France
Genetic mapping
Human
Sex linked character
Homology
Blepharophimosis
Chromosome A3
Gene expression
Eye disease
Vertebrata
Mammalia
Gene
Malformation
Eyelid disease
Mutation
Transcription factor
Physical map
Aminoacid sequence
ISSN:1061-4036, 1546-1718
Online Access:Get full text
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Description
Summary:In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid defects, but both types map to chromosome 3q23. We have positionally cloned a novel, putative winged helix/forkhead transcription factor gene, FOXL2 , that is mutated to produce truncated proteins in type I families and larger proteins in type II. Consistent with an involvement in those tissues, FOXL2 is selectively expressed in the mesenchyme of developing mouse eyelids and in adult ovarian follicles; in adult humans, it appears predominantly in the ovary. FOXL2 represents a candidate gene for the polled/intersex syndrome XX sex-reversal goat.
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ISSN:1061-4036
1546-1718
DOI:10.1038/84781