Genetic polymorphisms of human melatonin 1b receptor gene in circadian rhythm sleep disorders and controls.
Recent studies suggest that melatonin 1b (Mel1b) receptor, as well as melatonin 1a (Mel1a) receptor, is involved in the modulation of circadian rhythms in mammals. Mutational analysis was performed in the entire coding region of the human Mel1b 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 Mel1a and Mel1b receptor genes.
Ebisawa
T
T
Department of Psychiatry, Saitama Medical School, Iruma-gun, Japan. tebisawa@saitama-med.ac.jp
Uchiyama
M
M
Kajimura
N
N
Kamei
Y
Y
Shibui
K
K
Kim
K
K
Kudo
Y
Y
Iwase
T
T
Sugishita
M
M
Jodoi
T
T
Ikeda
M
M
Ozeki
Y
Y
Watanabe
T
T
Sekimoto
M
M
Katoh
M
M
Yamada
N
N
Toyoshima
R
R
Okawa
M
M
Takahashi
K
K
Yamauchi
T
T
D000328:Adult; D019943:Amino Acid Substitution; D002940:Circadian Rhythm; D005260:Female; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D016297:Mutagenesis, Site-Directed; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011956:Receptors, Cell Surface / Q000235:genetics*; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D044094:Receptors, Melatonin; D012016:Reference Values; D012890:Sleep / Q000502:physiology; D012893:Sleep Wake Disorders / Q000235:genetics* / Q000503:physiopathology; D014851:Wakefulness / Q000502:physiology
D011956:Receptors, Cell Surface; D018160:Receptors, Cytoplasmic and Nuclear; D044094:Receptors, Melatonin