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Forkhead box L2
Identifiers
Symbols FOXL2; BPES; BPES1; PFRK; PINTO; POF3
External IDs OMIM605597 MGI1349428 HomoloGene74992 GeneCards: FOXL2 Gene
RNA expression pattern
PBB GE FOXL2 220102 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 668 26927
Ensembl ENSG00000183770 ENSMUSG00000050397
UniProt P58012 Q2TVT7
RefSeq (mRNA) XM_001131060 XM_976602
RefSeq (protein) XP_001131060 XP_981696
Location (UCSC) Chr 3:
140.15 - 140.15 Mb
Chr 9:
98.77 - 98.77 Mb
PubMed search [1] [2]

Forkhead box protein L2 is a protein that in humans is encoded by the FOXL2 gene.[1][2]

Contents

Function

FOXL2 is a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function.[2]

Clinical significance

This protein is involved in sex determination. Female missing the FOXL2 gene appear male. FOXL2 knockout in mature mouse ovaries cause them to develop into testes, however oocytes are still formed.[3]

Mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3.[2]

See also

References

  1. ^ de Die-Smulders CE, Engelen JJ, Donk JM, Fryns JP (Dec 1991). "Further evidence for the location of the BPES gene at 3q2". J Med Genet 28 (10): 725. PMID 1941972.  
  2. ^ a b c "Entrez Gene: FOXL2 forkhead box L2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=668.  
  3. ^ Uhlenhaut NH, Jakob S, Anlag K, Eisenberger T, Sekido R, Kress J, Treier AC, Klugmann C, Klasen C, Holter NI, Riethmacher D, Schütz G, Cooney AJ, Lovell-Badge R, Treier M (December 2009). "Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation". Cell 139 (6): 1130–42. doi:10.1016/j.cell.2009.11.021. PMID 20005806. Lay summary – Nature News.  

Further reading

  • Vaiman D, Schibler L, Oustry-Vaiman A, et al. (1999). "High-resolution human/goat comparative map of the goat polled/intersex syndrome (PIS): the human homologue is contained in a human YAC from HSA3q23.". Genomics 56 (1): 31–9. doi:10.1006/geno.1998.5691. PMID 10036183.  
  • Kaestner KH, Knochel W, Martinez DE (2000). "Unified nomenclature for the winged helix/forkhead transcription factors.". Genes Dev. 14 (2): 142–6. PMID 10702024.  
  • Crisponi L, Deiana M, Loi A, et al. (2001). "The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.". Nat. Genet. 27 (2): 159–66. doi:10.1038/84781. PMID 11175783.  
  • De Baere E, Dixon MJ, Small KW, et al. (2001). "Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.". Hum. Mol. Genet. 10 (15): 1591–600. doi:10.1093/hmg/10.15.1591. PMID 11468277.  
  • Dollfus H, Kumaramanickavel G, Biswas P, et al. (2001). "Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22.". J. Med. Genet. 38 (7): 470–2. doi:10.1136/jmg.38.7.470. PMID 11474656.  
  • Yamada T, Hayasaka S, Matsumoto M, et al. (2002). "Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome.". J. Hum. Genet. 46 (12): 733–6. doi:10.1007/s100380170009. PMID 11776388.  
  • Kosaki K, Ogata T, Kosaki R, et al. (2002). "A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid.". Ophthalmic Genet. 23 (1): 43–7. doi:10.1076/opge.23.1.43.2202. PMID 11910558.  
  • Bell R, Murday VA, Patton MA, Jeffery S (2002). "Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2.". Genet. Test. 5 (4): 335–8. doi:10.1089/109065701753617499. PMID 11960581.  
  • Harris SE, Chand AL, Winship IM, et al. (2003). "Identification of novel mutations in FOXL2 associated with premature ovarian failure.". Mol. Hum. Reprod. 8 (8): 729–33. doi:10.1093/molehr/8.8.729. PMID 12149404.  
  • De Baere E, Lemercier B, Christin-Maitre S, et al. (2002). "FOXL2 mutation screening in a large panel of POF patients and XX males.". J. Med. Genet. 39 (8): e43. doi:10.1136/jmg.39.8.e43. PMID 12161610.  
  • Ramírez-Castro JL, Pineda-Trujillo N, Valencia AV, et al. (2003). "Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families.". Am. J. Med. Genet. 113 (1): 47–51. doi:10.1002/ajmg.10741. PMID 12400065.  
  • Cocquet J, Pailhoux E, Jaubert F, et al. (2003). "Evolution and expression of FOXL2.". J. Med. Genet. 39 (12): 916–21. doi:10.1136/jmg.39.12.916. PMID 12471206.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.  
  • De Baere E, Beysen D, Oley C, et al. (2003). "FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.". Am. J. Hum. Genet. 72 (2): 478–87. doi:10.1086/346118. PMID 12529855.  
  • Mazumdar A, Kumar R (2003). "Estrogen regulation of Pak1 and FKHR pathways in breast cancer cells.". FEBS Lett. 535 (1-3): 6–10. doi:10.1016/S0014-5793(02)03846-2. PMID 12560069.  
  • Fokstuen S, Antonarakis SE, Blouin JL (2003). "FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients.". Am. J. Med. Genet. A 117 (2): 143–6. doi:10.1002/ajmg.a.10024. PMID 12567411.  
  • Dollfus H, Stoetzel C, Riehm S, et al. (2003). "Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle.". Clin. Genet. 63 (2): 117–20. doi:10.1034/j.1399-0004.2003.00011.x. PMID 12630957.  
  • Udar N, Yellore V, Chalukya M, et al. (2003). "Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients.". Hum. Mutat. 22 (3): 222–8. doi:10.1002/humu.10251. PMID 12938087.  
  • Crisponi L, Uda M, Deiana M, et al. (2004). "FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences.". Genomics 83 (5): 757–64. doi:10.1016/j.ygeno.2003.11.010. PMID 15081106.  

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