LETTER TO JMG

Evolution and expression of FOXL2

J Cocquet^1,*, E Pailhoux², F Jaubert³, N Servel², X Xia⁴, M Pannetier², E De Baere⁵, L Messiaen⁵, C Cotinot², M Fellous^1,*, R A Veitia^1,*

¹ INSERM E0021, Génomique et Développement, Immunogénétique Humaine, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris, France
² Biologie du Développement et Biotechnologies, INRA - Jouy en Josas, France
³ Service d’Anatomie Pathologique, Hopital Necker-Enfants Malades, Paris, France
⁴ Bioinformatics Laboratory, HKU-Pasteur Research Centre, Pokfulam, Hong Kong
⁵ Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium

Correspondence to:
Correspondence to:
Dr R A Veita, U361 Reproduction et Physiopathologie Obstétricale, Hôpital Cochin, Pavillon Baudelocque, 123 Bd de Port-Royal, 75014 Paris, France;
veitia@cochin.inserm.fr

Keywords: FOXL2; evolution; haploinsufficiency; premature ovarian failure

Abbreviations: BPES, blepharophimosis-ptosis-epicanthus inversus syndrome; CAI, codon adaptation index; Dpc, days post-coitum; ORF, open reading frame; PAGE, polyacrylamide gel electrophoresis; POF, premature ovarian failure

The first 150 words of the full text of this article appear below.

Mutations in the FOXL2 gene have recently been shown to cause the blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), a rare genetic disease (MIM 110100).¹ In type I BPES eyelid abnormalities are associated with premature ovarian failure (POF), while in type II BPES only the eyelid malformation is observed.² FOXL2 is the first human autosomal gene whose dominant mutations have been shown to be involved in POF. The eyelid malformation in both BPES types is inherited as a dominant trait and we have recently argued that ovarian failure in type II BPES is a recessive trait.³

FOXL2 is a single exon gene of 2.7 kb. The predicted protein of 376 amino acids belongs to the large family of forkhead/winged helix transcription factors, containing a characteristic 100 amino acid DNA binding forkhead domain. Many members are known to be involved in vertebrate embryogenesis⁴ and some have been implicated in inherited developmental human disorders.⁵ Apart . . . [Full text of this article]

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