HAND proteins: molecular mediators of cardiac development and congenital heart disease

Trends Cardiovasc Med. 1999 Jan-Feb;9(1-2):11-8. doi: 10.1016/s1050-1738(98)00033-4.

Abstract

Congenital heart defects are the clinical manifestation of anomalies in embryonic cardiac development. Such defects occur in distinct regions or chambers of the heart. A molecular framework in which to consider cardiac development and congenital heart disease in a segmental fashion has begun to emerge. dHAND and eHAND are two related basic helix-loop-helix transcription factors that are expressed in a complementary fashion in the developing right and left ventricles, respectively. They are also expressed in the neural crest-derived cardiac outflow tract and aortic arch arteries. Targeted mutations of dHAND and eHAND in mice have revealed novel pathways of organogenesis in mesodermal and neural crest derivatives. dHAND mutants exhibit hypoplasia of the right ventricle, branchial arches, and aortic arch arteries. The distinct nature of cardiac defects in dHAND mutants provides an entry into dissecting molecular pathways governing morphogenesis of specific components of the heart. Congenital heart disease is considered as a defect in segmental development of the heart and the role of dHAND and eHAND in regulating such developmental pathways in normal and abnormal cardiogenesis is examined.

Publication types

  • Review

MeSH terms

  • Animals
  • Aorta / embryology
  • Aorta, Thoracic / abnormalities
  • Aorta, Thoracic / embryology
  • Basic Helix-Loop-Helix Transcription Factors
  • Branchial Region / abnormalities
  • DNA-Binding Proteins / genetics*
  • Gene Expression Regulation, Developmental
  • Heart / embryology*
  • Heart Defects, Congenital / genetics*
  • Heart Ventricles / embryology
  • Helix-Loop-Helix Motifs / genetics*
  • Humans
  • Mesoderm / physiology
  • Mice
  • Morphogenesis / genetics
  • Mutation / genetics
  • Neural Crest / physiology
  • Transcription Factors / genetics*
  • Zebrafish Proteins

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • DNA-Binding Proteins
  • HAND2 protein, human
  • Hand1 protein, mouse
  • Hand2 protein, mouse
  • Transcription Factors
  • Zebrafish Proteins
  • hand2 protein, zebrafish
  • helix-loop-helix protein, eHAND