[HTML][HTML] Modulation of noncanonical TGF-β signaling prevents cleft palate in Tgfbr2 mutant mice

J Iwata, JG Hacia, A Suzuki… - The Journal of …, 2012 - Am Soc Clin Investig
J Iwata, JG Hacia, A Suzuki, PA Sanchez-Lara, M Urata, Y Chai
The Journal of clinical investigation, 2012Am Soc Clin Investig
Patients with mutations in either TGF-β receptor type I (TGFBR1) or TGF-β receptor type II
(TGFBR2), such as those with Loeys-Dietz syndrome, have craniofacial defects and signs of
elevated TGF-β signaling. Similarly, mutations in TGF-β receptor gene family members
cause craniofacial deformities, such as cleft palate, in mice. However, it is unknown whether
TGF-β ligands are able to elicit signals in Tgfbr2 mutant mice. Here, we show that loss of
Tgfbr2 in mouse cranial neural crest cells results in elevated expression of TGF-β2 and TGF …
Patients with mutations in either TGF-β receptor type I (TGFBR1) or TGF-β receptor type II (TGFBR2), such as those with Loeys-Dietz syndrome, have craniofacial defects and signs of elevated TGF-β signaling. Similarly, mutations in TGF-β receptor gene family members cause craniofacial deformities, such as cleft palate, in mice. However, it is unknown whether TGF-β ligands are able to elicit signals in Tgfbr2 mutant mice. Here, we show that loss of Tgfbr2 in mouse cranial neural crest cells results in elevated expression of TGF-β2 and TGF-β receptor type III (TβRIII); activation of a TβRI/TβRIII-mediated, SMAD-independent, TRAF6/TAK1/p38 signaling pathway; and defective cell proliferation in the palatal mesenchyme. Strikingly, Tgfb2, Tgfbr1 (also known as Alk5), or Tak1 haploinsufficiency disrupted TβRI/TβRIII-mediated signaling and rescued craniofacial deformities in Tgfbr2 mutant mice, indicating that activation of this noncanonical TGF-β signaling pathway was responsible for craniofacial malformations in Tgfbr2 mutant mice. Thus, modulation of TGF-β signaling may be beneficial for the prevention of congenital craniofacial birth defects.
The Journal of Clinical Investigation