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Comment
. 2001 Mar 27;98(7):3641-3.
doi: 10.1073/pnas.081082498.

Uncoupling fibroblast growth factor receptor 2 ligand binding specificity leads to Apert syndrome-like phenotypes

K Yu  1 , D M Ornitz
Affiliations
Comment

Uncoupling fibroblast growth factor receptor 2 ligand binding specificity leads to Apert syndrome-like phenotypes

K Yu et al. Proc Natl Acad Sci U S A. .
No abstract available

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Figures

Figure 1
Figure 1
FGF signaling pathways in limb development. (A) Structure of the FGFR showing three disulfide linked (s-s) Ig loops (I, II, III), a transmembrane domain (TM) and an intracellular tyrosine kinase domain (TK). The striped region in the carboxyl- terminal half of Ig loop III is subject to alternative utilization of either exon b or exon c. These correspond to exons 8 and 9 of the Fgfr2 gene. (B) Schematic diagram of a developing limb showing the apical ectodermal ridge (AER), distal mesenchyme (DM), mesenchyme, and mesenchymal condensation. Sites of Fgf and Fgfr expression are shown. Limb bud initiation and outgrowth is regulated by a reciprocal signaling loop in which FGF10 signals to FGFR2b and FGFs 4, 8, 9, and 17 signal to FGFR1c (solid arrows). FGFR2c is prominently expressed in the mesenchymal condensation; however, its function and endogenous ligand in this location is not known. (C) Missense mutations causing AS could allow autocrine/juxtacrine activation of FGFR2 in the mesenchymal condensation and in the AER (dashed arrows). (D) Alu element insertions and the hemizygous deletion of exon c allow FGFR2b expression in mesenchymal tissue, effectively mimicking the missense mutations by allowing ectopic receptor activation by ligands such as FGF7 (dashed arrow).
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