Disruption of the nuclear hormone receptor RORalpha in staggerer mice

Nature. 1996 Feb 22;379(6567):736-9. doi: 10.1038/379736a0.

Abstract

Homozygous staggerer (sg) mice show a characteristic severe cerebellar ataxia due to a cell-autonomous defect in the development of Purkinje cells. These cells show immature morphology, synaptic arrangement, biochemical properties and gene expression, and are reduced in numbers. In addition, sg heterozygotes show accelerated dendritic atrophy and cell loss, suggesting that sg has a role in mature Purkinje cells. Effects of this mutation on cerebellar development have been studied for 25 years, but its molecular basis has remained unknown. We have genetically mapped staggerer to an interval of 160 kilobases on mouse chromosome 9 which was found to contain the gene encoding RORalpha, a member of the nuclear hormone-receptor superfamily. Staggerer mice were found to carry a deletion within the RORalpha gene that prevents translation of the ligand-binding homology domain. We propose a model based on these results, in which RORalpha interacts with the thyroid hormone signalling pathway to induce Purkinje-cell maturation.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Brain / cytology
  • Brain / embryology
  • Brain / metabolism
  • Cell Differentiation / physiology
  • Cerebellar Ataxia / genetics
  • Chromosome Mapping
  • DNA, Complementary
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / physiology
  • Female
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Neurologic Mutants / genetics*
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Purkinje Cells / pathology
  • Receptors, Cell Surface / genetics*
  • Receptors, Cell Surface / physiology
  • Receptors, Cytoplasmic and Nuclear / genetics*
  • Receptors, Cytoplasmic and Nuclear / physiology
  • Trans-Activators / genetics*
  • Trans-Activators / physiology

Substances

  • DNA, Complementary
  • DNA-Binding Proteins
  • Receptors, Cell Surface
  • Receptors, Cytoplasmic and Nuclear
  • Trans-Activators

Associated data

  • GENBANK/U53228