title: Structure, evolution and expression of the FOXL2 transcription unit.
abstract: FOXL2 is a putative transcription factor involved in ovarian development and function. Its mutations in humans are responsible for the blepharophimosis syndrome, characterized by eyelid malformations and premature ovarian failure (POF). Here we have performed a comparative sequence analysis of FOXL2 sequences of ten vertebrate species. We demonstrate that the entire open reading frame (ORF) is under purifying selection leading to strong protein conservation. We also review recent data on FOXL2 transcript and protein expression. FOXL2 has been shown 1) to be the earliest known sex dimorphic marker of ovarian determination/differentiation in vertebrates, 2) to have, at least in mammals, an ovarian expression persisting until adulthood. The conservation of its sequence and pattern of expression suggests that FOXL2 might be a key factor in the early development of the vertebrate female gonad and involved later in adult ovarian function. Finally, we provide arguments for the existence of an alternative transcript in rodents, that may arise from a differential polyadenylation. Although it has only been demonstrated in rodents, its presence/absence in other species deserves further investigation.
authors.affiliation: INSERM E0021 and U361, Reproduction et Physiopathologie Obstétricale, Hôpital Cochin, Paris, France.
authors.forename: J
authors.initials: J
authors.lastname: Cocquet
authors.forename: E
authors.initials: E
authors.lastname: De Baere
authors.forename: M
authors.initials: M
authors.lastname: Gareil
authors.forename: M
authors.initials: M
authors.lastname: Pannetier
authors.forename: X
authors.initials: X
authors.lastname: Xia
authors.forename: M
authors.initials: M
authors.lastname: Fellous
authors.forename: R A
authors.initials: RA
authors.lastname: Veitia
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D017124:Conserved Sequence; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D019143:Evolution, Molecular; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D026723:Polyadenylation; D012333:RNA, Messenger / Q000378:metabolism; D016415:Sequence Alignment; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D014158:Transcription, Genetic
chemical_list: D004268:DNA-Binding Proteins; C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; C498893:Foxl2 protein, mouse; D012333:RNA, Messenger; D014157:Transcription Factors