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Review
. 2005 Apr;16(2):205-13.
doi: 10.1016/j.cytogfr.2005.02.003. Epub 2005 Apr 1.

FGF signaling in the developing endochondral skeleton

David M Ornitz  1
Affiliations
Review

FGF signaling in the developing endochondral skeleton

David M Ornitz. Cytokine Growth Factor Rev. 2005 Apr.

Abstract

Mutations in fibroblast growth factor receptors (Fgfrs) are the etiology of many craniosynostosis and chondrodysplasia syndromes in humans. The phenotypes associated with these human syndromes and the phenotypes resulting from targeted mutagenesis in the mouse have defined essential roles for FGF signaling in both endochondral and intramembranous bone development. In this review, I will focus on the role of FGF signaling in chondrocytes and osteoblasts and how FGFs regulate the growth and development of endochondral bone.

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Figures

Fig. 1
Fig. 1
FGF receptor mutations in humans. Left (Blue): Mutations in FGFR3 – achondroplasia (ACH), thanatophoric dysplasia (TD), hypochondroplasia (HCH), crouzonodermoskeletal syndrome syndrome (Crouzon syndrome with acanthosis nigricans) (CDS), non-syndromic craniosynostosis (NSC), Muenke syndrome (MS). Right (Red): Mutations in FGFR2 – Crouzon syndrome (CS), Jackson-Weiss syndrome (JWS), Pfeiffer syndrome (PS), Apert syndrome (AS), Beare-Stevenson cutis gyrata (BS), unclassified (U). The line connecting S252L and A315S indicates the double mutation found in patients with Apert syndrome-like syndactyly without craniosynostosis. Right (Pink): A single mutation in FGFR1 causes Pfeiffer syndrome (PS) and osteoglophonic dysplasia (OD). Multiple mutations in FGFR1 cause Kallmann syndrome (KS). The numbers represent the position of the mutant amino acid in the human coding sequence. Amino acids are abbreviated using standard single letter abbreviations (adapted from [16]).
Fig. 2
Fig. 2
FGF and FGFR expression patterns in the growth plate. Chondrocytes progress through reserve (R), proliferating (P), prehypertrophic (PH) and hypertrophic (H) stages. Hypertrophic chondrocytes are then replaced by trabecular bone (T). FGF 18 is expressed in the perichondrium and may signal to FGFRs in both osteoblasts and chondrocytes.
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