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We investigated whether a G123→A mutation causing a Gly40→Ser substitution in exon 2 of the human glucagon receptor gene, which has been reported to be associated with non-insulin-dependent
diabetes mellitus (NIDDM) and impaired glucose tolerance (IGT) in France and Sardinia with a prevalences as high as 4.6% and
8.3%, respectively, is associated with Japanese patients with glucose intolerance. This mutation was not found in 242 unrelated
Japanese patients with NIDDM or 23 with IGT by screening by the polymerase chain reaction-restriction fragment length polymorphism
method. We also performed single-stranded conformational polymorphism analysis to search for new mutations in this gene associated
with glucose intolerance. We found no mutations by examining all the 13 exons from 30 selected patients with NIDDM who had
at least 2 diabetic first-degree relatives. These patients were also screened for the common polymorphism at codon 155 reported
previously, but none were found to carry it. The absence of the mutation and polymorphism, which are common in French and
Sardinian NIDDM or IGT patients, in Japanese indicates the existence of marked ethnic differences.
Received: 19 February 1996 相似文献
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Herrick-Davis K Grinde E Lindsley T Cowan A Mazurkiewicz JE 《The Journal of biological chemistry》2012,287(28):23604-23614
Fluorescence correlation spectroscopy (FCS) and photon counting histogram (PCH) are techniques with single molecule sensitivity that are well suited for examining the biophysical properties of protein complexes in living cells. In the present study, FCS and PCH were applied to determine the diffusion coefficient and oligomeric size of G-protein-coupled receptors. FCS was used to record fluctuations in fluorescence intensity arising from fluorescence-tagged 5-hydroxytryptamine 2C (5-HT(2C)) receptors diffusing within the plasma membrane of HEK293 cells and rat hippocampal neurons. Autocorrelation analysis yielded diffusion coefficients ranging from 0.8 to 1.2 μm(2)/s for fluorescence-tagged receptors. Because the molecular brightness of a fluorescent protein is directly proportional to the number of fluorescent proteins traveling together within a protein complex, it can be used to determine the oligomeric size of the protein complex. FCS and PCH analysis of fluorescence-tagged 5-HT(2C) receptors provided molecular brightness values that were twice that of GFP and YFP monomeric controls, similar to a dimeric GFP control, and unaltered by 5-HT. Bimolecular fluorescence complementation of the N- and C-terminal halves of YFP attached to 5-HT(2C) receptors was observed in endoplasmic reticulum/Golgi and plasma membranes with a brightness equal to monomeric YFP. When GFP-tagged 5-HT(2C) receptors were co-expressed with a large excess of untagged, non-fluorescent 5-HT(2C) receptors, the molecular brightness was reduced by half. PCH analysis of the FCS data were best described by a one-component dimer model without monomers or tetramers. Therefore, it is concluded that 5-HT(2C) receptors freely diffusing within the plasma membrane are dimeric. 相似文献
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Jeanette Erdmann Daphne Shimron-Abarbanell Marcella Rietschel Margot Albus Wolfgang Maier Judith Körner Brigitta Bondy Kevin Chen Jean C. Shih Michael Knapp Peter Propping Markus M. Nöthen 《Human genetics》1996,97(5):614-619
A statistically significant association between a silent mutation (102T/C) in the serotonin-2A (5-HT2A) receptor gene and schizophrenia has recently been reported in a sample of Japanese patients and healthy controls. This finding suggests that genetic predisposition to schizophrenia may be affected by a functional 5-HT2A receptor variant that is in linkage disequilibrium with 102T/C. In the present study, we have sought to identify genetic variation in the 5-HT2A receptor gene by screening genomic DNA samples from 91 unrelated subjects comprising 45 patients with schizophrenia and 46 healthy controls by using single-strand conformation analysis. We have identified four nucleotide sequence variants. Two sequence changes would result in protein alterations: a substitution of threonine by asparagine at position 25 (Thr25Asn), and a substitution of histidine by tyrosine at position 452 (His452Tyr). In order to test for a possible contribution to the development of schizophrenia, we have determined allele frequencies in extended samples of unrelated patients and healthy controls. The two amino acid substitutions are found with similar frequencies in patients and controls, indicating that the presence of these variants is not causally related to the development of schizophrenia. However, the reported association of the non-coding polymorphism 102T/C with the disease has also been detected in our sample (P = 0.041, odds ratio = 1.28, 95% confidence interval 1.012–1.623). 相似文献