Of mice and men: dissecting the genetic pathway that controls left-right asymmetry in mice and humans

Am J Med Genet. 2000 Winter;97(4):258-70.

Abstract

The increasing ability to manipulate the mouse genetically has created a model system that is both accessible and an accurate mirror of human development. A combination of analysis of existing spontaneous mouse mutations and creation of targeted mutations has identified at least z24 genes involved in the specification of mouse left-right asymmetry. These genes function in a carefully orchestrated manner first to create asymmetry at the node, then to signal it to the immediately surrounding cells via the node monocilia, and finally to amplify the initial asymmetry and propagate it to the developing organs. Defects at different steps in this pathway result in differences in the final phenotype. Human homologues exist for most of the mouse left-right determining genes. Notably, when human mutations in these genes have been identified in patients with defects of laterality determination, the human phenotype correlates very closely with the corresponding mouse phenotype.

Publication types

  • Comparative Study
  • Review

MeSH terms

  • Abnormalities, Multiple / embryology
  • Abnormalities, Multiple / genetics
  • Animals
  • Body Patterning / genetics*
  • Cilia / physiology
  • Cilia / ultrastructure
  • Dyneins / genetics
  • Dyneins / physiology
  • Ectoderm / physiology
  • Embryonic and Fetal Development / genetics
  • Endoderm / physiology
  • Fetal Proteins / genetics
  • Fetal Proteins / physiology
  • Gastrula / physiology
  • Gastrula / ultrastructure
  • Gene Expression Regulation, Developmental*
  • Genes
  • Genes, Homeobox
  • Genes, Lethal
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / physiology
  • Humans
  • Kinesins / physiology
  • Mice / embryology*
  • Mice / genetics
  • Mice, Mutant Strains
  • Mutation
  • Notochord / physiology
  • Phenotype
  • Species Specificity
  • Transcription Factors / genetics
  • Transcription Factors / physiology

Substances

  • Fetal Proteins
  • Homeodomain Proteins
  • Transcription Factors
  • ZIC3 protein, human
  • Zic3 protein, mouse
  • Dyneins
  • Kinesins