FGF10
MIM.602115 5p13-p12
FGF10 contains 3 exons and spans at least 52.7 kb.
Function
Fibroblast growth factor 10 (FGF10) signaling through FGF receptor 2 (FGFR2) is required for lung initiation. Fgf10 and Fgfr2 are important at later stages of lung development. Both Fgf10 and Fgfr2 are required for a normal branching program and for proper proximal-distal patterning of the lung.
Pathology
germline mutations of FGF10 in
- aplasia of lacrimal and salivary glands (MIM.180920)
- LADD syndrome (MIM.149730)
Mouse models
Conditional gene inactivation reveals roles for Fgf10 and Fgfr2 in establishing a normal pattern of epithelial branching in the mouse lung. (#19618463#)
Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse model. (#18773495#)
References
Entesarian, M.; Matsson, H.; Klar, J.; Bergendal, B.; Olson, L.; Arakaki, R.; Hayashi, Y.; Ohuchi, H.; Falahat, B.; Bolstad, A. I.; Jonsson, R.; Wahren-Herlenius, M.; Dahl, N. : Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands. Nature Genet. 37: 125-128, 2005. PubMed ID : #15654336#
Hogan, B. L. M. : Morphogenesis. Cell 96: 225-233, 1999. PubMed ID : #9988217#
Milunsky, J. M.; Zhao, G.; Maher, T. A.; Colby, R.; Everman, D. B. : LADD syndrome is caused by FGF10 mutations. Clin. Genet. 69: 349-354, 2006. PubMed ID : #16630169#
Rohmann, E.; Brunner, H. G.; Kayserili, H.; Uyguner, O.; Nurnberg, G.; Lew, E. D.; Dobbie, A.; Eswarakumar, V. P.; Uzumcu, A.; Ulubil-Emeroglu, M.; Leroy, J. G.; Li, Y.; and 9 others : Mutations in different components of FGF signaling in LADD syndrome. Nature Genet. 38: 414-417, 2006. PubMed ID : #16501574#
Conditional gene inactivation reveals roles for Fgf10 and Fgfr2 in establishing a normal pattern of epithelial branching in the mouse lung. Abler LL, Mansour SL, Sun X. Dev Dyn. 2009 Aug;238(8):1999-2013. PMID: #19618463#