Conditional inactivation of Foxc1 and Foxc2 in neural crest cells leads to cardiac abnormalities

Genesis. 2020 Jul;58(7):e23364. doi: 10.1002/dvg.23364. Epub 2020 Apr 7.

Abstract

Cardiac neural crest cells (cNCCs) are required for normal heart development. cNCCs are a multipotent and migratory cell lineage that differentiates into multiple cell types. cNCCs migrate into the developing heart to contribute to the septation of the cardiac outflow tract (OFT). Foxc1 and Foxc2 are closely related members of the FOX (Forkhead box) transcription factor family and are expressed in cNCC during heart development. However, the precise role of Foxc1 and Foxc2 in cNCCs has yet to be fully described. We found that compound NCC-specific Foxc1;Foxc2 mutant embryos exhibited persistent truncus arteriosus (PTA), ventricular septal defects (VSDs), and thinning of the ventricular myocardium. Loss of Foxc1/c2 expression in cNCCs resulted in abnormal patterns of cNCC migration into the OFT without the formation of the aorticopulmonary septum. Further, loss of Foxc1 expression in cNCCs resulted in normal OFT development but abnormal ventricular septal formation. In contrast, loss of Foxc2 expression in NCCs led to no obvious cardiac abnormalities. Together, we provide evidence that Foxc1 and Foxc2 in cNCCs are cooperatively required for proper cNCC migration, the formation of the OFT septation, and the development of the ventricles. Our data also suggests that Foxc1 expression may play a larger role in ventricular development compared to Foxc2.

Keywords: Foxc; cardiac neural crest; heart development; truncus arteriosus; ventricular septal defect.

Publication types

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

MeSH terms

  • Animals
  • Embryonic Stem Cells / cytology
  • Embryonic Stem Cells / metabolism
  • Forkhead Transcription Factors / genetics*
  • Heart Ventricles / abnormalities
  • Heart Ventricles / growth & development
  • Heart Ventricles / metabolism
  • Mice
  • Mice, Inbred C57BL
  • Mutation
  • Neural Crest / cytology
  • Neural Crest / growth & development
  • Neural Crest / metabolism*
  • Truncus Arteriosus, Persistent / genetics*
  • Truncus Arteriosus, Persistent / pathology

Substances

  • Forkhead Transcription Factors
  • Foxc1 protein, mouse
  • mesenchyme fork head 1 protein