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

Developmental Biology
Ana TalamilloMaria A Ros

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.

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Citations

Aug 20, 2011·PLoS Genetics·Sylvain W Lapan, Peter W Reddien
Jun 9, 2012·Orphanet Journal of Rare Diseases·Taro MutoTakafumi Noma
Feb 11, 2011·Genesis : the Journal of Genetics and Development·Xiu-Ping Wang, Jiabing Fan
Mar 28, 2012·The Journal of Medical Investigation : JMI·Taro MutoTakafumi Noma
Nov 3, 2011·Journal of Biomedicine & Biotechnology·Trianna W UtamiTakafumi Noma
Dec 22, 2017·Plastic and Reconstructive Surgery. Global Open·Humayun AhmedMohammad R Akbari
May 10, 2017·Journal of Child Psychology and Psychiatry, and Allied Disciplines·Esther WaltonEdward D Barker
Aug 14, 2018·Clinical Genetics·Piranit N Kantaputra, Bruce M Carlson
Mar 27, 2012·The Open Orthopaedics Journal·D JordanW Khan
Apr 8, 2020·Frontiers in Cell and Developmental Biology·Tomoaki NakamuraTakashi Nakamura
Mar 13, 2021·Communications Biology·Koichiro OnoToshiyuki Yoneda
Oct 26, 2014·Journal of Cell Science·Takashi NakamuraYoshihiko Yamada

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