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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Vydané v:	Nature genetics Ročník 27; číslo 2; s. 159 - 166
Hlavní autori:	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
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	New York Nature Publishing Group US 01.02.2001 Nature Publishing Group
Predmet:	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
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Shrnutí:	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.
Bibliografia:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Article-2 ObjectType-Feature-1 content type line 23
ISSN:	1061-4036 1546-1718
DOI:	10.1038/84781