Rescue of morphogenetic defects and of retinoic acid signaling in retinaldehyde dehydrogenase 2 (Raldh2) mouse mutants by chimerism with wild-type cells

Differentiation. 2006 Dec;74(9-10):661-8. doi: 10.1111/j.1432-0436.2006.00094.x.

Abstract

Retinoic acid (RA), the active vitamin A derivative, is an important developmental signaling molecule in vertebrates. In this study, we have assessed whether minimal numbers and/or specific distributions of RA-producing cells can support normal mouse embryonic development. Retinaldehyde dehydrogenase 2 (RALDH2) is the main RA-synthesizing enzyme acting during development. We have generated an embryonic stem (ES) cell line homozygous for an Raldh2 gene disruption, and have analyzed chimeric embryos with various contributions of wild-type cells. Whereas embryos almost completely derived from Raldh2(-/-) cells phenocopy the corresponding germline null mutants, the presence of even small numbers (<10%) of wild-type cells can rescue most of the morphogenetic defects, including embryonic turning and axial elongation, and left-right looping of the heart tube. No consistent bias in the distribution of wild-type cells was observed in the phenotypically rescued Raldh2(-/-) chimeras. Analysis of an RA-sensitive transgene indicates that RA can diffuse from wild-type cells and elicit a widespread transcriptional response in Raldh2-deficient cells. Our results show that few wild-type RA-producing cells, even when present in apparent random distributions, can support early morphogenesis of the mouse embryo. However, the Raldh2(-/-) chimeric fetuses display lung abnormalities, persistent truncus arteriosus, and abnormal myocardial differentiation, showing that subsequent RA-dependent events cannot be fully rescued by the mosaic presence of wild-type cells.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple
  • Aldehyde Oxidoreductases / genetics*
  • Aldehyde Oxidoreductases / metabolism
  • Animals
  • Blastocyst / metabolism
  • Cell Differentiation
  • Chimera / abnormalities
  • Chimera / embryology
  • Chimera / metabolism
  • Chimerism
  • Embryonic Development* / genetics
  • Embryonic Stem Cells / enzymology*
  • Mice
  • Mice, Transgenic
  • Mutation
  • Myocytes, Cardiac / metabolism
  • Myocytes, Cardiac / ultrastructure
  • Signal Transduction*
  • Transgenes
  • Tretinoin / metabolism*

Substances

  • Tretinoin
  • Aldehyde Oxidoreductases
  • RALDH2 protein, mouse