Rotatin is a novel gene required for axial rotation and left-right specification in mouse embryos

Mech Dev. 2002 Apr;113(1):15-28. doi: 10.1016/s0925-4773(02)00003-5.


The genetic cascade that governs left-right (L-R) specification is starting to be elucidated. In the mouse, the lateral asymmetry of the body axis is revealed first by the asymmetric expression of nodal, lefty2 and pitx2 in the left lateral plate mesoderm of the neurulating embryo. Here we describe a novel gene, rotatin, essential for the correct expression of the key L-R specification genes nodal, lefty and Pitx2. Embryos deficient in rotatin show also randomized heart looping and delayed neural tube closure, and fail to undergo the critical morphogenetic step of axial rotation. The amino acid sequence deduced from the cDNA is predicted to contain at least three transmembrane domains. Our results show a novel key player in the genetic cascade that determines L-R specification, and suggest a causal link between this process and axial rotation.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Blotting, Northern
  • Body Patterning
  • Cell Cycle Proteins
  • Chromosome Mapping
  • Cloning, Molecular
  • DNA, Complementary / metabolism
  • Gene Expression Regulation, Developmental*
  • Genotype
  • In Situ Hybridization
  • Membrane Proteins / biosynthesis*
  • Membrane Proteins / chemistry*
  • Membrane Proteins / genetics
  • Mesoderm / physiology
  • Mice
  • Models, Biological
  • Models, Genetic
  • Molecular Sequence Data
  • Mutation
  • Neural Crest / embryology
  • Notochord / physiology
  • Protein Structure, Tertiary
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Homology, Amino Acid
  • Time Factors
  • Tissue Distribution
  • beta-Galactosidase / metabolism


  • Cell Cycle Proteins
  • DNA, Complementary
  • Membrane Proteins
  • rotatin protein, mouse
  • beta-Galactosidase