Genetic polymorphisms of human melatonin 1b receptor gene in circadian rhythm sleep disorders and controls

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• 作者：Ebisawa ; Takashi ; Uchiyama ; Makoto ; Kajimura ; Naofumi ; Kamei ; Yuichi ; Shibui ; Kayo ; Kim ; Keiko ; et. al.
• 关键词：Melatonin receptor ; Human ; Polymorphism ; Sleep disorders ; Single strand conformational polymorphism analysis ; Gene
• 刊名：Neuroscience Letters
• 出版年：2000
• 出版时间：February 11, 2000
• 年：2000
• 卷：280
• 期：1
• 页码：29-32
• 全文大小：83.2 K

文摘

Recent studies suggest that melatonin 1b (Mel_1b) receptor, as well as melatonin 1a (Mel_1a) receptor, is involved in the modulation of circadian rhythms in mammals. Mutational analysis was performed in the entire coding region of the human Mel_1b receptor gene using genomic DNA from sleep disorder subjects. We have identified two missense mutations, G24E and L66F. However, neither is likely to be associated with sleep disorders in our study population. One of the subjects with non-24-h sleep-wake syndrome carries missense mutations in both the Mel_1a and Mel_1b receptor genes-