| First Author | Lee GH | Year | 1996 |
| Journal | Nature | Volume | 379 |
| Issue | 6566 | Pages | 632-5 |
| PubMed ID | 8628397 | Mgi Jnum | J:31327 |
| Mgi Id | MGI:78830 | Doi | 10.1038/379632a0 |
| Citation | Lee GH, et al. (1996) Abnormal splicing of the leptin receptor in diabetic mice. Nature 379(6566):632-5 |
| abstractText | Mutations in the mouse diabetes (db) gene result in obesity and diabetes in a syndrome resembling morbid human obesity. Previous data suggest that the db gene encodes the receptor for the obese (ob) gene product, leptin. A leptin receptor was recently cloned from choroid plexus and shown to map to the same 6-cM interval on mouse chromosome 4 as db. This receptor maps to the same 300-kilobase interval as db, and has at least six alternatively spliced forms. One of these splice variants is expressed at a high level in the hypothalamus, and is abnormally spliced in C57BL/Ks db/db mice. The mutant protein is missing the cytoplasmic region, and is likely to be defective in signal transduction. This suggests that the weight-reducing effects of leptin may be mediated by signal transduction through a leptin receptor in the hypothalamus. |
