Mice exclusively expressing the short isoform of Smad2 develop normally and are viable and fertile

Genes Dev. 2005 Jan 1;19(1):152-63. doi: 10.1101/gad.1243205.

Abstract

Smad2 and Smad3 are closely related effectors of TGFbeta/Nodal/Activin-related signaling. Smad3 mutant mice develop normally, whereas Smad2 plays an essential role in patterning the embryonic axis and specification of definitive endoderm. Alternative splicing of Smad2 exon 3 gives rise to two distinct protein isoforms. The short Smad2(Deltaexon3) isoform, unlike full-length Smad2, Smad2(FL), retains DNA-binding activity. Here, we show that Smad2(FL) and Smad2(Deltaexon3) are coexpressed throughout mouse development. Directed expression of either Smad2(Deltaexon3) or Smad3, but not Smad2(FL), restores the ability of Smad2-deficient embryonic stem (ES) cells to contribute descendants to the definitive endoderm in wild-type host embryos. Mice engineered to exclusively express Smad2(Deltaexon3) correctly specify the anterior-posterior axis and definitive endoderm, and are viable and fertile. Moreover, introducing a human Smad3 cDNA into the mouse Smad2 locus similarly rescues anterior-posterior patterning and definitive endoderm formation and results in adult viability. Collectively, these results demonstrate that the short Smad2(Deltaexon3) isoform or Smad3, but not full-length Smad2, activates all essential target genes downstream of TGFbeta-related ligands, including those regulated by Nodal.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Body Patterning
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / physiology*
  • Embryo, Mammalian
  • Endoderm
  • Fertility / genetics
  • Fetal Viability / genetics
  • Gene Expression Regulation, Developmental / physiology*
  • Growth and Development / genetics*
  • Humans
  • Mice
  • Mice, Mutant Strains
  • Mice, Transgenic
  • Protein Isoforms / physiology
  • Smad2 Protein
  • Smad3 Protein
  • Stem Cells
  • Trans-Activators / genetics*
  • Trans-Activators / physiology*

Substances

  • DNA-Binding Proteins
  • Protein Isoforms
  • SMAD2 protein, human
  • SMAD3 protein, human
  • Smad2 Protein
  • Smad2 protein, mouse
  • Smad3 Protein
  • Smad3 protein, mouse
  • Trans-Activators