Disruption of Wnt production in Shh lineage causes bone malformation in mice, mimicking human Malik-Percin-type syndactyly

FEBS Lett. 2018 Feb;592(3):356-368. doi: 10.1002/1873-3468.12963. Epub 2018 Jan 18.

Abstract

Here, we show that Shh-Cre-mediated deletion of Wntless, the Wnt cargo protein, in mouse posterior limb mesenchyme causes bone syndactyly of the 3rd and 4th digits, resembling the human Malik-Percin type. The Shh descendants gradiently distributed from digit 5 to posterior half of digit 3 in wild-type limbs, however, they abnormally increased in posterior digit 3 in WntlessShh-Cre . WntlessShh-Cre limbs displayed altered expression of hedgehog pathway genes and impaired noncanonical Wnt signaling activity. We further showed that the anterior limb mesenchymal cells in the WlsShh-Cre served as a source of Wnt5a to reorientate the adjacent Wls-lacking Shh lineage cells to move anteriorly and subsequently led to syndactyly, suggesting that aberrant mesenchymal cell movement/condensation may underlie the pathogenesis of syndactyly.

Keywords: Wnt signaling; genetic animal models; hedgehog; limb patterning; syndactyly.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Body Patterning
  • Cell Lineage
  • Cells, Cultured
  • Disease Models, Animal
  • Fingers / abnormalities*
  • Gene Deletion
  • Gene Expression Regulation, Developmental
  • Hedgehog Proteins / genetics*
  • Hedgehog Proteins / metabolism
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Intracellular Signaling Peptides and Proteins / metabolism
  • Mesenchymal Stem Cells / cytology*
  • Mesenchymal Stem Cells / metabolism
  • Mice
  • Receptors, G-Protein-Coupled / genetics*
  • Receptors, G-Protein-Coupled / metabolism
  • Syndactyly / genetics*
  • Toes / abnormalities*
  • Wnt Signaling Pathway

Substances

  • Gpr177 protein, mouse
  • Hedgehog Proteins
  • Intracellular Signaling Peptides and Proteins
  • Receptors, G-Protein-Coupled
  • Shh protein, mouse

Supplementary concepts

  • Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction