The RXRalpha ligand-dependent activation function 2 (AF-2) is important for mouse development

Development. 1998 Dec;125(23):4691-707. doi: 10.1242/dev.125.23.4691.

Abstract

We have engineered a mouse mutation that specifically deletes the C-terminal 18 amino acid sequence of the RXRalpha protein. This deletion corresponds to the last helical alpha structure (H12) of the ligand-binding domain (LBD), and includes the core of the Activating Domain of the Activation Function 2 (AF-2 AD core) that is thought to be crucial in mediating ligand-dependent transactivation by RXRalpha. The homozygous mutants (RXRalpha af2(o)), which die during the late fetal period or at birth, exhibit a subset of the abnormalities previously observed in RXRalpha -/- mutants, often with incomplete penetrance. In marked contrast, RXRalpha af2(o)/RXRbeta -/- and RXRalpha af2(o)/RXRbeta -/- /RXRgamma -/- compound mutants display a large array of malformations, which nearly recapitulate the full spectrum of the defects that characterize the fetal vitamin A-deficiency (VAD) syndrome and were previously found in RAR single and compound mutants, as well as in RXRalpha/RAR(alpha, beta or gamma) compound mutants. Analysis of RXRalpha af2(o)/RAR(alpha, beta or gamma) compound mutants also revealed that they exhibit many of the defects observed in the corresponding RXR alpha/RAR compound mutants. Together, these results demonstrate the importance of the integrity of RXR AF-2 for the developmental functions mediated by RAR/RXR heterodimers, and hence suggest that RXR ligand-dependent transactivation is instrumental in retinoid signalling during development.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Amino Acid Sequence
  • Animals
  • Animals, Newborn
  • Base Sequence
  • DNA Primers
  • DNA-Binding Proteins / chemistry
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism
  • Death
  • Embryonic and Fetal Development / genetics*
  • Female
  • Fetal Death / genetics
  • Genomic Library
  • Homozygote
  • Ligands
  • Mice
  • Mice, Knockout
  • Molecular Sequence Data
  • Mutagenesis, Site-Directed
  • Pregnancy
  • Protein Structure, Secondary
  • Receptors, Retinoic Acid / chemistry
  • Receptors, Retinoic Acid / genetics*
  • Receptors, Retinoic Acid / metabolism*
  • Recombinant Proteins / metabolism
  • Restriction Mapping
  • Retinoid X Receptors
  • Sequence Deletion*
  • Transcription Factors / chemistry
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism*
  • Transcriptional Activation
  • Vitamin D Deficiency / embryology
  • Vitamin D Deficiency / genetics

Substances

  • DNA Primers
  • DNA-Binding Proteins
  • Ligands
  • Receptors, Retinoic Acid
  • Recombinant Proteins
  • Retinoid X Receptors
  • Transcription Factors