title: Role of Epiprofin, a zinc-finger transcription factor, in limb development.
abstract: 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.
authors.affiliation: Departamento de Anatomía y Biología Celular. Facultad de Medicina. Universidad de Cantabria, 39011 Santander, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Talamillo
authors.forename: Irene
authors.initials: I
authors.lastname: Delgado
authors.forename: Takashi
authors.initials: T
authors.lastname: Nakamura
authors.forename: Susana
authors.initials: S
authors.lastname: de-Vega
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Yoshitomi
authors.forename: Fernando
authors.initials: F
authors.lastname: Unda
authors.forename: Walter
authors.initials: W
authors.lastname: Birchmeier
authors.forename: Yoshihiko
authors.initials: Y
authors.lastname: Yamada
authors.forename: Maria A
authors.initials: MA
authors.lastname: Ros
mesh_terms: D000818:Animals; D019521:Body Patterning / Q000235:genetics; D055415:Bone Morphogenetic Protein 4 / Q000378:metabolism; D016923:Cell Death; D049109:Cell Proliferation; D004475:Ectoderm / Q000196:embryology / Q000378:metabolism / Q000473:pathology; D004622:Embryo, Mammalian / Q000378:metabolism / Q000473:pathology; D005121:Extremities / Q000196:embryology* / Q000473:pathology; D051524:Fibroblast Growth Factor 8 / Q000378:metabolism; D018507:Gene Expression Regulation, Developmental; D051741:Kruppel-Like Transcription Factors / Q000172:deficiency / Q000235:genetics / Q000378:metabolism*; D051379:Mice; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D015398:Signal Transduction; D051153:Wnt Proteins / Q000378:metabolism; D016335:Zinc Fingers; D051176:beta Catenin / Q000378:metabolism
chemical_list: C525810:Bmp4 protein, mouse; D055415:Bone Morphogenetic Protein 4; C496457:Fgf8 protein, mouse; D051741:Kruppel-Like Transcription Factors; C498818:Sp6 protein, mouse; D051153:Wnt Proteins; D051176:beta Catenin; D051524:Fibroblast Growth Factor 8