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
- ^ 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. doi:10.1136/jmg.28.10.725. PMC 1017067. PMID 1941972.
- ^ a b c "Entrez Gene: FOXL2 forkhead box L2".
- ^ 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. doi:10.1101/gad.14.2.142. 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. PMC 1757180. 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. PMC 1735205. 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. PMC 1757225. 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. PMC 139241. 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. PMC 379240. 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.
External links
- FOXL2 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
- GeneReviews/NCBI/NIH/UW entry on Blepharophimosis, Ptosis, and Epicanthus Inversus
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