| First Author | Suter U | Year | 1992 |
| Journal | Nature | Volume | 356 |
| Issue | 6366 | Pages | 241-4 |
| PubMed ID | 1552943 | Mgi Jnum | J:2294 |
| Mgi Id | MGI:50818 | Doi | 10.1038/356241a0 |
| Citation | Suter U, et al. (1992) Trembler mouse carries a point mutation in a myelin gene. Nature 356(6366):241-4 |
| abstractText | 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). |
