T396I mutation of mouse Sufu reduces the stability and activity of Gli3 repressor.

Hedgehog signaling is primarily transduced by two transcription factors: Gli2, which mainly acts as a full-length activator, and Gli3, which tends to be proteolytically processed from a full-length form (Gli3FL) to an N-terminal repressor (Gli3REP). Recent studies using a Sufu knockout mouse have in...

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Main Authors: Shigeru Makino, Olena Zhulyn, Rong Mo, Vijitha Puviindran, Xiaoyun Zhang, Takuya Murata, Ryutaro Fukumura, Yuichi Ishitsuka, Hayato Kotaki, Daisuke Matsumaru, Shunsuke Ishii, Chi-Chung Hui, Yoichi Gondo
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4356511?pdf=render
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author Shigeru Makino
Olena Zhulyn
Rong Mo
Vijitha Puviindran
Xiaoyun Zhang
Takuya Murata
Ryutaro Fukumura
Yuichi Ishitsuka
Hayato Kotaki
Daisuke Matsumaru
Shunsuke Ishii
Chi-Chung Hui
Yoichi Gondo
author_facet Shigeru Makino
Olena Zhulyn
Rong Mo
Vijitha Puviindran
Xiaoyun Zhang
Takuya Murata
Ryutaro Fukumura
Yuichi Ishitsuka
Hayato Kotaki
Daisuke Matsumaru
Shunsuke Ishii
Chi-Chung Hui
Yoichi Gondo
author_sort Shigeru Makino
collection DOAJ
description Hedgehog signaling is primarily transduced by two transcription factors: Gli2, which mainly acts as a full-length activator, and Gli3, which tends to be proteolytically processed from a full-length form (Gli3FL) to an N-terminal repressor (Gli3REP). Recent studies using a Sufu knockout mouse have indicated that Sufu is involved in regulating Gli2 and Gli3 activator and repressor activity at multiple steps of the signaling cascade; however, the mechanism of specific Gli2 and Gli3 regulation remains to be elucidated. In this study, we established an allelic series of ENU-induced mouse strains. Analysis of one of the missense alleles, SufuT396I, showed that Thr396 residue of Sufu played a key role in regulation of Gli3 activity. SufuT396I/T396I embryos exhibited severe polydactyly, which is indicative of compromised Gli3 activity. Concomitantly, significant quantitative reductions of unprocessed Gli3 (Gli3FL) and processed Gli3 (Gli3REP) were observed in vivo as well as in vitro. Genetic experiments showed that patterning defects in the limb buds of SufuT396I/T396I were rescued by a constitutive Gli3REP allele (Gli3∆699), strongly suggesting that SufuT396I reduced the truncated Gli3 repressor. In contrast, SufuT396I qualitatively exhibited no mutational effects on Gli2 regulation. Taken together, the results of this study show that the Thr396 residue of Sufu is specifically required for regulation of Gli3 but not Gli2. This implies a novel Sufu-mediated mechanism in which Gli2 activator and Gli3 repressor are differentially regulated.
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spelling doaj.art-5366ddfafc8c445db67a20a837d067f62022-12-21T23:49:06ZengPublic Library of Science (PLoS)PLoS ONE1932-62032015-01-01103e011945510.1371/journal.pone.0119455T396I mutation of mouse Sufu reduces the stability and activity of Gli3 repressor.Shigeru MakinoOlena ZhulynRong MoVijitha PuviindranXiaoyun ZhangTakuya MurataRyutaro FukumuraYuichi IshitsukaHayato KotakiDaisuke MatsumaruShunsuke IshiiChi-Chung HuiYoichi GondoHedgehog signaling is primarily transduced by two transcription factors: Gli2, which mainly acts as a full-length activator, and Gli3, which tends to be proteolytically processed from a full-length form (Gli3FL) to an N-terminal repressor (Gli3REP). Recent studies using a Sufu knockout mouse have indicated that Sufu is involved in regulating Gli2 and Gli3 activator and repressor activity at multiple steps of the signaling cascade; however, the mechanism of specific Gli2 and Gli3 regulation remains to be elucidated. In this study, we established an allelic series of ENU-induced mouse strains. Analysis of one of the missense alleles, SufuT396I, showed that Thr396 residue of Sufu played a key role in regulation of Gli3 activity. SufuT396I/T396I embryos exhibited severe polydactyly, which is indicative of compromised Gli3 activity. Concomitantly, significant quantitative reductions of unprocessed Gli3 (Gli3FL) and processed Gli3 (Gli3REP) were observed in vivo as well as in vitro. Genetic experiments showed that patterning defects in the limb buds of SufuT396I/T396I were rescued by a constitutive Gli3REP allele (Gli3∆699), strongly suggesting that SufuT396I reduced the truncated Gli3 repressor. In contrast, SufuT396I qualitatively exhibited no mutational effects on Gli2 regulation. Taken together, the results of this study show that the Thr396 residue of Sufu is specifically required for regulation of Gli3 but not Gli2. This implies a novel Sufu-mediated mechanism in which Gli2 activator and Gli3 repressor are differentially regulated.http://europepmc.org/articles/PMC4356511?pdf=render
spellingShingle Shigeru Makino
Olena Zhulyn
Rong Mo
Vijitha Puviindran
Xiaoyun Zhang
Takuya Murata
Ryutaro Fukumura
Yuichi Ishitsuka
Hayato Kotaki
Daisuke Matsumaru
Shunsuke Ishii
Chi-Chung Hui
Yoichi Gondo
T396I mutation of mouse Sufu reduces the stability and activity of Gli3 repressor.
PLoS ONE
title T396I mutation of mouse Sufu reduces the stability and activity of Gli3 repressor.
title_full T396I mutation of mouse Sufu reduces the stability and activity of Gli3 repressor.
title_fullStr T396I mutation of mouse Sufu reduces the stability and activity of Gli3 repressor.
title_full_unstemmed T396I mutation of mouse Sufu reduces the stability and activity of Gli3 repressor.
title_short T396I mutation of mouse Sufu reduces the stability and activity of Gli3 repressor.
title_sort t396i mutation of mouse sufu reduces the stability and activity of gli3 repressor
url http://europepmc.org/articles/PMC4356511?pdf=render
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