TGF-beta signaling and aplasia cutis congenita: proposed animal model

J Calif Dent Assoc. 2007 Dec;35(12):865-9.

Abstract

TGF-beta plays a role in cell migration, proliferation, and differentiation during embryonic development. This study investigated the effect of neural crest- or mesodermspecific loss of TGF-beta type II receptor in mice. These conditional knockout mice both exhibit skin defects of the skull associated with an underlying bone defect, a phenotype consistent with the human disorder aplasia cutis congenita. The authors suggest that TGF-3 type II receptor gene is a candidate gene for aplasia cutis congenita.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Activating Transcription Factor 2 / genetics
  • Animals
  • Cell Lineage / genetics
  • Disease Models, Animal
  • Ectodermal Dysplasia / etiology*
  • Ectodermal Dysplasia / genetics
  • Humans
  • Mesoderm / pathology
  • Mice
  • Mice, Knockout
  • Mice, Transgenic
  • Myogenic Regulatory Factor 5 / genetics
  • Neural Crest / pathology
  • Phenotype
  • Protein Serine-Threonine Kinases / genetics
  • Protein Serine-Threonine Kinases / physiology*
  • Proteins / genetics
  • RNA, Untranslated
  • Receptor, Transforming Growth Factor-beta Type II
  • Receptors, Transforming Growth Factor beta / genetics
  • Receptors, Transforming Growth Factor beta / physiology*
  • Signal Transduction / genetics
  • Signal Transduction / physiology*
  • Skull / abnormalities
  • Transforming Growth Factor beta / genetics
  • Transforming Growth Factor beta / physiology*
  • Wnt1 Protein / genetics

Substances

  • Activating Transcription Factor 2
  • Gt(ROSA)26Sor non-coding RNA, mouse
  • Myf5 protein, mouse
  • Myogenic Regulatory Factor 5
  • Proteins
  • RNA, Untranslated
  • Receptors, Transforming Growth Factor beta
  • Transforming Growth Factor beta
  • Wnt1 Protein
  • Protein Serine-Threonine Kinases
  • Receptor, Transforming Growth Factor-beta Type II