Disruption of ECE-1 and ECE-2 reveals a role for endothelin-converting enzyme-2 in murine cardiac development

J Clin Invest. 2000 May;105(10):1373-82. doi: 10.1172/JCI7447.

Abstract

Endothelin-converting enzyme-1 and -2 (ECE-1 and -2) are membrane-bound metalloproteases that can cleave biologically the inactive endothelin-1 (ET-1) precursor to form active ET-1 in vitro. We previously reported developmental defects in specific subsets of neural crest-derived tissues, including branchial arch-derived craniofacial structures, aortic arch arteries, and the cardiac outflow tract in ECE-1 knockout mice. To examine the role of ECE-2 in cardiovascular development, we have now generated a null mutation in ECE-2 by homologous recombination. ECE-2 null mice develop normally, are healthy into adulthood, are fertile in both sexes, and live a normal life span. However, when they are bred into an ECE-1-null background, defects in cardiac outflow structures become more severe than those in ECE-1 single knockout embryos. In addition, ECE-1(-/-); ECE-2(-/-) double null embryos exhibited abnormal atrioventricular valve formation, a phenotype never seen in ECE-1 single knockout embryos. In the developing mouse heart, ECE-2 mRNA is expressed in the endocardial cushion mesenchyme from embyronic day (E) 12.5, in contrast to the endocardial expression of ECE-1. Levels of mature ET-1 and ET-2 in whole ECE-1(-/-); ECE-2(-/-) embryos at E12.5 do not differ appreciably from those of ECE-1(-/-) embryos. The significant residual ET-1/ET-2 in the ECE-1(-/-); ECE-2(-/-) embryos indicates that proteases distinct from ECE-1 and ECE-2 can carry out ET-1 activation in vivo.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Aspartic Acid Endopeptidases / genetics*
  • Aspartic Acid Endopeptidases / physiology*
  • Base Sequence
  • DNA Primers / genetics
  • Endothelin-1 / metabolism
  • Endothelin-2 / metabolism
  • Endothelin-Converting Enzymes
  • Female
  • Fetal Heart / embryology*
  • Fetal Heart / enzymology*
  • Gene Expression Regulation, Developmental
  • Gene Expression Regulation, Enzymologic
  • Heart Defects, Congenital / enzymology
  • Heart Defects, Congenital / genetics
  • Heart Defects, Congenital / pathology
  • In Situ Hybridization
  • In Vitro Techniques
  • Male
  • Metalloendopeptidases / genetics*
  • Metalloendopeptidases / physiology*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Pregnancy
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Tissue Distribution

Substances

  • DNA Primers
  • Endothelin-1
  • Endothelin-2
  • RNA, Messenger
  • Aspartic Acid Endopeptidases
  • Metalloendopeptidases
  • Ece1 protein, mouse
  • Ece2 protein, mouse
  • Endothelin-Converting Enzymes