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Roles of FGF receptors in mammalian development and congenital diseases

Xavier Coumoul1, Chu-Xia Deng

  • 1Genetics of Development and Disease Branch, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA.

Birth Defects Research. Part C, Embryo Today : Reviews
|January 28, 2004
PubMed

Insights

Fibroblast growth factor receptors (FGFRs) are crucial for mammalian development, influencing cell growth, differentiation, and organ formation. Mutations in FGFRs are linked to numerous congenital diseases, particularly skeletal disorders.

Area of Science:

  • Developmental Biology
  • Molecular Biology
  • Genetics

Background:

  • Fibroblast growth factor receptors (FGFRs) are transmembrane tyrosine kinases that bind fibroblast growth factors (FGFs).
  • FGFR signaling is vital for numerous biological processes, including embryonic development and tissue homeostasis.
  • Dysregulation of FGFR signaling is implicated in various congenital diseases and cancer.

Purpose of the Study:

  • To review recent advancements in understanding the roles of FGFRs in mammalian development.
  • To highlight the connection between FGFR mutations and congenital diseases, with a focus on skeletal development.
  • To discuss the underlying signal transduction pathways involved in FGFR function.

Main Methods:

  • Review of existing literature on FGFRs in mammalian development and disease.
  • Analysis of gene targeting studies in mice to elucidate FGFR functions.
  • Examination of clinical data linking FGFR mutations to human congenital disorders.

Main Results:

  • FGFRs (FGFR1-4) are essential for mesoderm induction, cell migration, differentiation, organogenesis, and neuronal development.
  • Mutations in FGFRs cause over a dozen human congenital diseases, underscoring their importance in skeletal development.
  • FGFR signaling pathways are critical regulators of cell proliferation, survival, and migration.

Conclusions:

  • FGFRs play indispensable roles throughout mammalian development.
  • Understanding FGFR signaling is key to addressing congenital diseases and developmental abnormalities.
  • Further research into FGFR signal transduction pathways can inform therapeutic strategies for related disorders.

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