| First Author | Chen H | Year | 1996 |
| Journal | Cell | Volume | 84 |
| Issue | 3 | Pages | 491-5 |
| PubMed ID | 8608603 | Mgi Jnum | J:31324 |
| Mgi Id | MGI:78827 | Doi | 10.1016/s0092-8674(00)81294-5 |
| Citation | Chen H, et al. (1996) Evidence that the diabetes gene encodes the leptin receptor: identification of a mutation in the leptin receptor gene in db/db mice. Cell 84(3):491-5 |
| abstractText | OB-R is a high affinity receptor for leptin, an important circulating signal for the regulation of body weight. We identified an alternatively spliced transcript that encodes a form of mouse OB-R with a long intracellular domain. db/db mice also produce this alternatively spliced transcript, but with a 106 nt insertion that prematurely terminates the intracellular domain. We further identified G --> T point mutation in the genomic OB-R sequence in db/db mice. This mutation generates a donor splice site that converts the 106 nt region to a novel exon retained in the OB-R transcript. We predict that the long intracellular domain form of OB-R is crucial for initiating intracellular signal transduction, and as a corollary, the inability to produce this form of OB-R leads to the severe obese phenotype found in db/db mice. |
