Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2003-6-17
pubmed:abstractText
Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a human disorder caused by mutations in the forkhead transcription factor gene FOXL2 and is characterized by facial dysmorphology combined in some cases with ovarian failure. To better understand the role of FOXL2 in the etiology of ovarian failure in BPES, we examined its expression in embryonic ovaries of mice, chickens, and red-eared slider turtles, representatives of three phylogenetically distant vertebrate groups that have different mechanisms of sex determination. Expression of Foxl2 was detected in early ovaries of all three species around the time of sex determination and was associated with both somatic and germ cell populations in mice. Expression was sexually dimorphic in all cases. Sequence analysis of turtle and chicken FoxL2 orthologues indicated an unusually high degree of structural conservation during evolution. FoxL2 was found to be autosomal in chickens, and therefore unlikely to represent the dominant ovarian-determining gene that has been postulated to exist as a possible explanation for female heterogamety in birds. Our observations suggest that BPES may result from early abnormalities in regulating the development of the fetal ovary, rather than premature degeneration of the postnatal or adult ovary. Further, our results suggest that FOXL2 is a highly conserved early regulator of vertebrate ovarian development.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0013-7227
pubmed:author
pubmed:issnType
Print
pubmed:volume
144
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
3237-43
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:12810580-Amino Acid Sequence, pubmed-meshheading:12810580-Animals, pubmed-meshheading:12810580-Animals, Outbred Strains, pubmed-meshheading:12810580-Blepharophimosis, pubmed-meshheading:12810580-Blepharoptosis, pubmed-meshheading:12810580-Chickens, pubmed-meshheading:12810580-Conserved Sequence, pubmed-meshheading:12810580-DNA-Binding Proteins, pubmed-meshheading:12810580-Eyelids, pubmed-meshheading:12810580-Female, pubmed-meshheading:12810580-Forkhead Transcription Factors, pubmed-meshheading:12810580-Gene Expression Regulation, Developmental, pubmed-meshheading:12810580-Male, pubmed-meshheading:12810580-Mice, pubmed-meshheading:12810580-Mice, Transgenic, pubmed-meshheading:12810580-Molecular Sequence Data, pubmed-meshheading:12810580-Ovary, pubmed-meshheading:12810580-Ovum, pubmed-meshheading:12810580-Pregnancy, pubmed-meshheading:12810580-Sex Differentiation, pubmed-meshheading:12810580-Temperature, pubmed-meshheading:12810580-Transcription Factors, pubmed-meshheading:12810580-Turtles
pubmed:year
2003
pubmed:articleTitle
Etiology of ovarian failure in blepharophimosis ptosis epicanthus inversus syndrome: FOXL2 is a conserved, early-acting gene in vertebrate ovarian development.
pubmed:affiliation
Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't