Foxl2 function in ovarian development

Molecular Genetics and Metabolism
Nina Henriette Uhlenhaut, Mathias Treier

Abstract

Foxl2 is a forkhead transcription factor essential for proper reproductive function in females. Human patients carrying mutations in the FOXL2 gene display blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), an autosomal dominant disease associated with eyelid defects and premature ovarian failure in females. Recently, animal models for BPES have been developed that in combination with a catalogue of human FOXL2 mutations provide further insight into its molecular function. Mice homozygous mutant for Foxl2 display craniofacial malformations and female infertility. The analysis of the murine phenotype has revealed that Foxl2 is required for granulosa cell function. These ovarian somatic cells surround and nourish the oocyte and play an important role in follicle formation and activation. Mutations upstream of FOXL2 in humans, not affecting the coding sequence itself, have also been shown to cause BPES, which points to the existence of a distant regulatory element necessary for proper gene expression. The same regulatory sequences may be deleted in the goat polled intersex syndrome (PIS), in which FoxL2 expression is severely reduced. Sequence comparison of FoxL2 from several vertebrate species has shown that it is a hig...Continue Reading

References

Apr 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·K McElreaveyM Fellous
Feb 1, 1996·Mammalian Genome : Official Journal of the International Mammalian Genome Society·D VaimanE P Cribiu
Jun 17, 1998·Genes & Development·M TreierM G Rosenfeld
Aug 1, 2002·Molecular Human Reproduction·S E HarrisA N Shelling
Aug 6, 2002·Journal of Medical Genetics·E De BaereR Veitia
Sep 26, 2002·Developmental Biology·Peter Carlsson, Margit Mahlapuu
Dec 10, 2002·Journal of Medical Genetics·J CocquetR A Veitia
Dec 11, 2002·Proceedings of the National Academy of Sciences of the United States of America·Samuel KarlinMichael Cleary
Dec 14, 2002·Nature Cell Biology·Martin M Matzuk, Dolores J Lamb
Aug 26, 2003·Human Mutation·Nitin UdarUNKNOWN BPES Consortium
Dec 20, 2003·Cytogenetic and Genome Research·J CocquetR A Veitia
Dec 31, 2003·Trends in Genetics : TIG·Lucia Y Brown, Stephen A Brown
Apr 2, 2004·Human Molecular Genetics·Manuela UdaGiuseppe Pilia
Jun 23, 2004·Biochemical and Biophysical Research Communications·Deshou WangYoshitaka Nagahama
Jun 24, 2004·Nature Reviews. Genetics·Jennifer Brennan, Blanche Capel
Sep 24, 2004·Current Biology : CB·Brian Charlesworth
Nov 2, 2004·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Marina S GovorounCorinne Cotinot
Nov 9, 2004·Current Opinion in Genetics & Development·Manfred Schartl
Nov 19, 2004·American Journal of Human Genetics·Dirk A Kleinjan, Veronica van Heyningen
Dec 14, 2004·Journal of Molecular Endocrinology·Daniel BaronReiner A Veitia
Jan 27, 2005·Journal of Cell Science·Richard Y M MaKwok-Ming Yao
May 28, 2005·Human Reproduction Update·Deepti Goswami, Gerard S Conway
Jun 10, 2005·Human Molecular Genetics·Chris OttolenghiDavid Schlessinger
Jun 21, 2005·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Annette BaumstarkWalter Just
Jun 29, 2005·Reproduction, Nutrition, Development·Daniel BaronMarc Fellous
Sep 3, 2005·Molecular Genetics and Metabolism·Kelly A LofflerPeter Koopman
Oct 6, 2005·Nature Reviews. Genetics·Jennifer R Gatchel, Huda Y Zoghbi
Oct 13, 2005·Human Molecular Genetics·Lara MoumnéReiner A Veitia

❮ Previous
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Citations

Feb 4, 2014·Virchows Archiv : an International Journal of Pathology·Leendert H J LooijengaKatharina Biermann
Aug 4, 2011·Reproduction : the Official Journal of the Society for the Study of Fertility·Nina Henriette Uhlenhaut, Mathias Treier
Apr 17, 2014·Genetics, Selection, Evolution : GSE·Zhi-Gang Shen, Han-Ping Wang
Mar 20, 2013·Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology·Elizabeth K SmithJ Adam Luckenbach
Jun 15, 2014·Journal of Molecular Endocrinology·Zhen-Yu She, Wan-Xi Yang
Dec 25, 2008·The Journal of Biological Chemistry·Amy L BlountLouise M Bilezikjian
Jan 30, 2010·Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation·B C MooreL J Guillette
Sep 6, 2011·Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology·Wenbo JiangHaobin Zhao
Apr 21, 2010·Fertility and Sterility·Daniel J BernardPankaj Lamba
Jun 2, 2009·Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology·Amine NaimiPascal Sourdaine
Dec 9, 2008·Molecular and Cellular Endocrinology·Antti Perheentupa, Ilpo Huhtaniemi
Nov 26, 2008·Trends in Genetics : TIG·Ryohei Sekido, Robin Lovell-Badge
Nov 15, 2008·Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology·Bao ShiYu G Zhou
Feb 19, 2008·Best Practice & Research. Clinical Endocrinology & Metabolism·Konstantin Svechnikov, Olle Söder
Dec 17, 2009·Cell·N Henriette UhlenhautMathias Treier
Oct 21, 2015·Seminars in Cell & Developmental Biology·Anna Biason-Lauber, Marie-Christine Chaboissier
Sep 19, 2007·Best Practice & Research. Clinical Endocrinology & Metabolism·Olle Söder
Aug 8, 2007·Insect Biochemistry and Molecular Biology·Immo A HansenAlexander S Raikhel
Feb 8, 2013·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Andrew CuttingCraig A Smith
May 28, 2010·Journal of Cellular Physiology·Alexander V Sirotkin
Jun 19, 2010·Journal of Fish Biology·K R Siegfried
Sep 1, 2015·Endocrinology and Metabolism Clinics of North America·Saioa Torrealday, Lubna Pal
Jan 22, 2011·The Journal of Steroid Biochemistry and Molecular Biology·Brandon C MooreLouis J Guillette
Jun 29, 2014·Fertility and Sterility·Mira ParkJeehyeon Bae
Mar 21, 2008·Biology of Reproduction·Saori OtsukaYasuhiro Kon
Jan 21, 2011·Biology of Reproduction·Antti KyrönlahtiDavid B Wilson
Jun 21, 2011·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Rebecca Buell-GutbrodKatja Gwin
Aug 3, 2011·Laboratory Investigation; a Journal of Technical Methods and Pathology·Mikko AnttonenMarkku Heikinheimo
Dec 25, 2008·Current Opinion in Oncology·Stacey Jamieson, Peter J Fuller

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