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

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...

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Veröffentlicht in:Neuroscience letters 2000-02, Vol.280 (1), p.29-32
Hauptverfasser: Ebisawa, Takashi, Uchiyama, Makoto, Kajimura, Naofumi, Kamei, Yuichi, Shibui, Kayo, Kim, Keiko, Kudo, Yoshinao, Iwase, Toshio, Sugishita, Mariko, Jodoi, Takako, Ikeda, Masaaki, Ozeki, Yuji, Watanabe, Tsuyoshi, Sekimoto, Masanori, Katoh, Masaaki, Yamada, Naoto, Toyoshima, Ryoichi, Okawa, Masako, Takahashi, Kiyohisa, Yamauchi, Toshio
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container_issue 1
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container_title Neuroscience letters
container_volume 280
creator Ebisawa, Takashi
Uchiyama, Makoto
Kajimura, Naofumi
Kamei, Yuichi
Shibui, Kayo
Kim, Keiko
Kudo, Yoshinao
Iwase, Toshio
Sugishita, Mariko
Jodoi, Takako
Ikeda, Masaaki
Ozeki, Yuji
Watanabe, Tsuyoshi
Sekimoto, Masanori
Katoh, Masaaki
Yamada, Naoto
Toyoshima, Ryoichi
Okawa, Masako
Takahashi, Kiyohisa
Yamauchi, Toshio
description 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-
doi_str_mv 10.1016/S0304-3940(99)00981-7
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subjects Adult
Amino Acid Substitution
Biological and medical sciences
Circadian Rhythm
Female
Fundamental and applied biological sciences. Psychology
Gene
Gene Frequency
Genetic Carrier Screening
Hormones and neuropeptides. Regulation
Human
Humans
Hypothalamus. Hypophysis. Epiphysis. Urophysis
Male
melatonin 1B receptors
Melatonin receptor
Mutagenesis, Site-Directed
Mutation, Missense
Polymerase Chain Reaction
Polymorphism
Polymorphism, Genetic
Polymorphism, Single-Stranded Conformational
Receptors, Cell Surface - genetics
Receptors, Cytoplasmic and Nuclear - genetics
Receptors, Melatonin
Reference Values
Single strand conformational polymorphism analysis
Sleep - physiology
Sleep disorders
Sleep Wake Disorders - genetics
Sleep Wake Disorders - physiopathology
Vertebrates: endocrinology
Wakefulness - physiology
title Genetic polymorphisms of human melatonin 1b receptor gene in circadian rhythm sleep disorders and controls
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