Substitution at codon 269 (glutamine→ proline) of the leptin receptor (OB-R) cDNA is the only mutation found in the Zucker fatty (fa/fa) rat

M Iida, T Murakami, K Ishida, A Mizuno… - Biochemical and …, 1996 - Elsevier
M Iida, T Murakami, K Ishida, A Mizuno, M Kuwajima, K Shima
Biochemical and biophysical research communications, 1996Elsevier
We recently cloned one of spliced variant forms of rat leptin receptor (OB-R), which contains
a short intracellular domain, and found obese-phenotype-linked nucleotide alteration in the
extracellular domain of the cDNA from the Zucker (fa/fa) rat, which results in a
glutamine269to proline269amino acid substitution. Reported herein are the cloning and
sequencing of another spliced variant forms of rat OB-R cDNA with a long intracellular
domain. Both forms of OB-R cDNA share the same extracellular domain. In the Zucker (fa/fa) …
We recently cloned one of spliced variant forms of rat leptin receptor (OB-R), which contains a short intracellular domain, and found obese-phenotype-linked nucleotide alteration in the extracellular domain of the cDNA from the Zucker (fa/fa) rat, which results in a glutamine269to proline269amino acid substitution. Reported herein are the cloning and sequencing of another spliced variant forms of rat OB-R cDNA with a long intracellular domain. Both forms of OB-R cDNA share the same extracellular domain. In the Zucker (fa/fa) rat, no changes in either the gene structure nor in the nucleotide sequence of the long intracellular domain were observed. However, the expression level of OB-R mRNA in the brain of Zucker (fa/fa) rat was higher than for lean littermates. These facts suggest that the substitution at codon 269 of the OB-R cDNA represents the crucial mutation which results in the obese phenotype of Zucker (fa/fa) rat.
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