FOXC2

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Forkhead box protein C2 (FOXC2) also known as forkhead-related protein FKHL14 (FKHL14), transcription factor FKH-14, or mesenchyme fork head protein 1 (MFH1) is a protein that in humans is encoded by the FOXC2 gene.[1][2] FOXC2 is a member of the fork head box (FOX) family of transcription factors.

Clinical significance

Mutations in the FOXC2 gene are associated with lymphedema distichiasis,[3] and that has been studied to determine if it is associated with varicose veins.[4]

FOXC2 is also involved in cancer metastases. Particularly, expression of FOXC2 is induced when epithelial cells undergo an epithelial-mesenchymal transition (EMT) and become mesenchymal looking cells. EMT can be induced by a number of genes including Snail, Twist, Goosecoid, and TGF-beta 1.[5] Suppression of FOXC2 expression using shRNA in a highly metastatic breast cancer model blocks their metastatic ability.[6]

References

  1. ^ Kaestner KH, Bleckmann SC, Monaghan AP, Schlöndorff J, Mincheva A, Lichter P, Schütz G (1996). "Clustered arrangement of winged helix genes fkh-6 and MFH-1: possible implications for mesoderm development". Development. 122 (6): 1751–8. PMID 8674414. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  2. ^ Miura N, Iida K, Kakinuma H, Yang XL, Sugiyama T (1997). "Isolation of the mouse (MFH-1) and human (FKHL 14) mesenchyme fork head-1 genes reveals conservation of their gene and protein structures". Genomics. 41 (3): 489–92. doi:10.1006/geno.1997.4695. PMID 9169153. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  3. ^ Connell F, Brice G, Mortimer P (2008). "Phenotypic characterization of primary lymphedema". Ann. N. Y. Acad. Sci. 1131: 140–6. doi:10.1196/annals.1413.013. PMID 18519967.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  4. ^ Ng MY, Andrew T, Spector TD, Jeffery S (2005). "Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs". J. Med. Genet. 42 (3): 235–9. doi:10.1136/jmg.2004.024075. PMC 1736007. PMID 15744037. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  5. ^ Battula VL, Evans KW, Hollier BG, Shi Y, Marini FC, Ayyanan A, Wang RY, Brisken C, Guerra R, Andreeff M, Mani SA (2010). "Epithelial-Mesenchymal Transition-Derived Cells Exhibit Multi-Lineage Differentiation Potential Similar to Mesenchymal Stem Cells". Stem Cells. doi:10.1002/stem.467. PMID 20572012. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  6. ^ Mani SA, Yang J, Brooks M, Schwaninger G, Zhou A, Miura N, Kutok JL, Hartwell K, Richardson AL, Weinberg RA (2007). "Mesenchyme Forkhead 1 (FOXC2) plays a key role in metastasis and is associated with aggressive basal-like breast cancers". Proc. Natl. Acad. Sci. U.S.A. 104 (24): 10069–74. doi:10.1073/pnas.0703900104. PMC 1891217. PMID 17537911. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)

Further reading

  • Fauret AL, Tuleja E, Jeunemaitre X, Vignes S (2010). "A novel missense mutation and two microrearrangements in the FOXC2 gene of three families with lymphedema-distichiasis syndrome". Lymphology. 43 (1): 14–8. PMID 20552815.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • Witte MH, Erickson RP, Khalil M; et al. (2009). "Lymphedema-distichiasis syndrome without FOXC2 mutation: evidence for chromosome 16 duplication upstream of FOXC2". Lymphology. 42 (4): 152–60. PMID 20218083. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • de Mooij YM, van den Akker NM, Bekker MN; et al. (2009). "Abnormal Shh and FOXC2 expression correlates with aberrant lymphatic development in human fetuses with increased nuchal translucency". Prenat. Diagn. 29 (9): 840–6. doi:10.1002/pd.2316. PMID 19548265. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Sano H, Leboeuf JP, Novitskiy SV; et al. (2010). "The Foxc2 transcription factor regulates tumor angiogenesis". Biochem. Biophys. Res. Commun. 392 (2): 201–6. doi:10.1016/j.bbrc.2010.01.015. PMID 20060810. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Vreeburg M, Heitink MV, Damstra RJ; et al. (2008). "Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene". Int. J. Dermatol. 47 Suppl 1: 52–5. doi:10.1111/j.1365-4632.2008.03962.x. PMID 18986489. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Kume T (2008). "Foxc2 transcription factor: a newly described regulator of angiogenesis". Trends Cardiovasc. Med. 18 (6): 224–8. doi:10.1016/j.tcm.2008.11.003. PMID 19185813.
  • Yoshida T, Kato K, Fujimaki T; et al. (2009). "Association of a polymorphism of the apolipoprotein E gene with chronic kidney disease in Japanese individuals with metabolic syndrome". Genomics. 93 (3): 221–6. doi:10.1016/j.ygeno.2008.11.001. PMID 19056482. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Ma GC, Liu CS, Chang SP; et al. (2008). "A recurrent ITGA9 missense mutation in human fetuses with severe chylothorax: possible correlation with poor response to fetal therapy". Prenat. Diagn. 28 (11): 1057–63. doi:10.1002/pd.2130. PMID 18973153. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Yerges LM, Klei L, Cauley JA; et al. (2009). "High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men". J. Bone Miner. Res. 24 (12): 2039–49. doi:10.1359/jbmr.090524. PMID 19453261. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Lu Y, Dollé ME, Imholz S; et al. (2008). "Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations". J. Lipid Res. 49 (12): 2582–9. doi:10.1194/jlr.M800232-JLR200. PMID 18660489. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)
  • van Steensel MA, Damstra RJ, Heitink MV; et al. (2009). "Novel missense mutations in the FOXC2 gene alter transcriptional activity". Hum. Mutat. 30 (12): E1002-9. doi:10.1002/humu.21127. PMID 19760751. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Pappa KI, Gazouli M, Economou K; et al. (2010). "Gestational diabetes mellitus shares polymorphisms of genes associated with insulin resistance and type 2 diabetes in the Greek population". Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology: HASH(0x28c7db0). doi:10.3109/09513590.2010.490609. PMID 20540670. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Joslyn G, Ravindranathan A, Brush G; et al. (2010). "Human variation in alcohol response is influenced by variation in neuronal signaling genes". Alcohol. Clin. Exp. Res. 34 (5): 800–12. doi:10.1111/j.1530-0277.2010.01152.x. PMID 20201926. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Fabretto A, Shardlow A, Faletra F; et al. (2010). "A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation". Ophthalmic Genet. 31 (2): 98–100. doi:10.3109/13816811003620517. PMID 20450314. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Ghalamkarpour A, Debauche C, Haan E; et al. (2009). "Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2". J. Pediatr. 155 (1): 90–3. doi:10.1016/j.jpeds.2009.02.023. PMID 19394045. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Silander K, Alanne M, Kristiansson K; et al. (2008). "Gender differences in genetic risk profiles for cardiovascular disease". PLoS ONE. 3 (10): e3615. doi:10.1371/journal.pone.0003615. PMID 18974842. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)
  • Dellinger MT, Thome K, Bernas MJ; et al. (2008). "Novel FOXC2 missense mutation identified in patient with lymphedema-distichiasis syndrome and review". Lymphology. 41 (3): 98–102. PMID 19013876. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Corpeleijn E, Petersen L, Holst C; et al. (2010). "Obesity-related polymorphisms and their associations with the ability to regulate fat oxidation in obese Europeans: the NUGENOB study". Obesity (Silver Spring). 18 (7): 1369–77. doi:10.1038/oby.2009.377. PMID 19876004. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Horra A, Salazar J, Ferré R; et al. (2009). "Prox-1 and FOXC2 gene expression in adipose tissue: A potential contributory role of the lymphatic system to familial combined hyperlipidaemia". Atherosclerosis. 206 (2): 343–5. doi:10.1016/j.atherosclerosis.2009.02.026. PMID 19339011. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Hader C, Marlier A, Cantley L (2010). "Mesenchymal-epithelial transition in epithelial response to injury: the role of Foxc2". Oncogene. 29 (7): 1031–40. doi:10.1038/onc.2009.397. PMID 19935708.{{cite journal}}: CS1 maint: multiple names: authors list (link)

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