학술논문

Evidence that the diabetes gene encodes the leptin receptor: identification of a mutation in the leptin receptor gene in db/db mice
Document Type
Academic Journal
Source
Cell. Feb 9, 1996, Vol. 84 Issue 3, p491, 5 p.
Subject
Obesity -- Genetic aspects
Mice -- Genetic aspects
Leptin -- Genetic aspects
Biological sciences
Language
ISSN
0092-8674
Abstract
Recent studies of the genetic basis of obesity in db/db mice suggest that the leptin (OB-R) gene generates transcripts that initiate intracellular signal transduction in the db locus, which contains the gene for obesity. An alternatively spliced mouse transcript analogous to the human cDNA encoding a long intracellular domain form of OB-R was identified. Genetic analysis showed that this transcript does not contain a 106 nt insertion. It is suggested that mutations to the gene converts the 106 nt region to a novel exon retained in the OB-R transcript.