Trembler mouse carries a point mutation in a myelin gene

Nature. 1992 Mar 19;356(6366):241-4. doi: 10.1038/356241a0.

Abstract

The autosomal dominant trembler mutation (Tr), maps to mouse chromosome 11 (ref. 2) and manifests as a Schwann-cell defect characterized by severe hypomyelination and continuing Schwann-cell proliferation throughout life. Affected animals move clumsily and develop tremor and transient seizures at a young age. We have recently described a potentially growth-regulating myelin protein, peripheral myelin protein-22 (PMP-22; refs 7, 8), which is expressed by Schwann cells and found in peripheral myelin. We now report the assignment of the gene for PMP-22 to mouse chromosome 11. Cloning and sequencing of PMP-22 complementary DNAs from inbred Tr mice reveals a point mutation that substitutes an aspartic acid residue for a glycine in a putative membrane-associated domain of the PMP-22 protein. Our results identify the PMP-22 gene as a likely candidate for the mouse trembler locus and will encourage the search for mutations in the corresponding human gene in pedigrees with hypertrophic neuropathies such as Charcot-Marie-Tooth and Dejerine-Sottas diseases (hereditary motor and sensory neuropathies I and III).

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cloning, Molecular
  • DNA / chemistry
  • DNA / isolation & purification
  • Gene Expression
  • Mice
  • Mice, Neurologic Mutants
  • Mice, Transgenic
  • Molecular Sequence Data
  • Mutation
  • Myelin Proteins / chemistry
  • Myelin Proteins / genetics*
  • Myelin Sheath / physiology*
  • Nervous System Diseases / genetics*
  • Phenotype
  • Polymerase Chain Reaction
  • Schwann Cells / metabolism

Substances

  • Myelin Proteins
  • Pmp22 protein, mouse
  • DNA