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

First Author  Talamillo A Year  2010
Journal  Dev Biol Volume  337
Issue  2 Pages  363-74
PubMed ID  19913006 Mgi Jnum  J:157263
Mgi Id  MGI:4430451 Doi  10.1016/j.ydbio.2009.11.007
Citation  Talamillo A, et al. (2010) Role of Epiprofin, a zinc-finger transcription factor, in limb development. Dev Biol 337(2):363-74
abstractText  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.
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