Role of Epiprofin, a zinc-finger transcription factor, in limb development

Ana Talamillo, Irene Delgado, Takashi Nakamura, Susana de-Vega, Yasuo Yoshitomi, Fernando Unda, Walter Birchmeier, Yoshihiko Yamada, Maria A. Ros

Research output: Contribution to journalArticlepeer-review

29 Citations (Scopus)


The formation and maintenance of the apical ectodermal ridge (AER) is critical for the outgrowth and patterning of the vertebrate limb. In the present work, we have investigated the role of Epiprofin (Epfn/Sp6), a member of the SP/KLF transcription factor family that is expressed in the limb ectoderm and the AER, during limb development. Epfn mutant mice have a defective autopod that shows mesoaxial syndactyly in the forelimb and synostosis (bony fusion) in the hindlimb and partial bidorsal digital tips. Epfn mutants also show a defect in the maturation of the AER that appears flat and broad, with a double ridge phenotype. By genetic analysis, we also show that Epfn is controlled by WNT/b-CATENIN signaling in the limb ectoderm. Since the less severe phenotypes of the conditional removal of b-catenin in the limb ectoderm strongly resemble the limb phenotype of Epfn mutants, we propose that EPFN very likely functions as a modulator of WNT signaling in the limb ectoderm.

Original languageEnglish
Pages (from-to)363-374
Number of pages12
JournalDevelopmental Biology
Issue number2
Publication statusPublished - 2010 Jan 15


  • AER
  • Apical ectodermal ridge
  • BMP
  • Epiprofin
  • Limb development
  • Oligodactyly
  • Sp/KLF
  • Sp6
  • Syndactyly


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