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      Evidence that the diabetes gene encodes the leptin receptor: identification of a mutation in the leptin receptor gene in db/db mice.


      Alternative Splicing, Amino Acid Sequence, Animals, Base Sequence, Carrier Proteins, genetics, DNA Primers, DNA, Complementary, Diabetes Mellitus, Type 1, metabolism, Humans, Leptin, Mice, Mice, Inbred Strains, Mice, Obese, Molecular Sequence Data, Obesity, Phenotype, Point Mutation, Polymerase Chain Reaction, Proteins, Receptors, Cell Surface, Receptors, Cytokine, Receptors, Leptin, Sequence Homology, Amino Acid, Signal Transduction

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          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.

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