PMID- 10471411
OWN - NLM
STAT- MEDLINE
DCOM- 19991007
LR  - 20151119
IS  - 0006-291X (Print)
IS  - 0006-291X (Linking)
VI  - 262
IP  - 3
DP  - 1999 Sep 7
TI  - Alleic variants of human melatonin 1a receptor: function and prevalence in
      subjects with circadian rhythm sleep disorders.
PG  - 832-7
AB  - The human melatonin 1a (hMella) receptor gene was screened for mutations using
      genomic DNA samples from patients with circadian rhythm sleep disorders and
      control subjects by single strand conformational polymorphism analysis (SSCP). We
      found seven mutations, two of which predict amino acid changes R54W and A157V,
      respectively. The prevalence of the R54W variant and that of the A157V variant
      were several times more common in non-24-h sleep-wake syndrome subjects than
      among control subjects, although the incidence was not significant in our study
      group. When expressed in COS-7 cells, the R54W mutant receptor exhibited
      significantly reduced B(max) and slightly enhanced affinity (reduced K(d))
      compared to the wild type receptor, while the A157V variant receptor showed
      similar binding characteristics to the wild type. The identification of variants 
      in the hMella receptor will provide a useful tool for analyzing genetic
      predisposition toward various diseases related to melatonin function and to
      clarify the physiological role of melatonin receptors in humans.
CI  - Copyright 1999 Academic Press.
FAU - Ebisawa, T
AU  - Ebisawa T
AD  - Department of Psychiatry, Saitama Medical School, Saitama, Japan.
      tebisawa@saitama-med.ac.jp
FAU - Kajimura, N
AU  - Kajimura N
FAU - Uchiyama, M
AU  - Uchiyama M
FAU - Katoh, M
AU  - Katoh M
FAU - Sekimoto, M
AU  - Sekimoto M
FAU - Watanabe, T
AU  - Watanabe T
FAU - Ozeki, Y
AU  - Ozeki Y
FAU - Ikeda, M
AU  - Ikeda M
FAU - Jodoi, T
AU  - Jodoi T
FAU - Sugishita, M
AU  - Sugishita M
FAU - Iwase, T
AU  - Iwase T
FAU - Kamei, Y
AU  - Kamei Y
FAU - Kim, K
AU  - Kim K
FAU - Shibui, K
AU  - Shibui K
FAU - Kudo, Y
AU  - Kudo Y
FAU - Yamada, N
AU  - Yamada N
FAU - Toyoshima, R
AU  - Toyoshima R
FAU - Okawa, M
AU  - Okawa M
FAU - Takahashi, K
AU  - Takahashi K
FAU - Yamauchi, T
AU  - Yamauchi T
LA  - eng
SI  - GENBANK/AB029932
SI  - GENBANK/AB029933
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Biochem Biophys Res Commun
JT  - Biochemical and biophysical research communications
JID - 0372516
RN  - 0 (DNA Primers)
RN  - 0 (Receptors, Cell Surface)
RN  - 0 (Receptors, Cytoplasmic and Nuclear)
RN  - 0 (Receptors, Melatonin)
RN  - 0 (Recombinant Proteins)
RN  - JL5DK93RCL (Melatonin)
SB  - IM
MH  - Alleles
MH  - Amino Acid Substitution
MH  - Base Sequence
MH  - *Circadian Rhythm
MH  - Cloning, Molecular
MH  - DNA Primers
MH  - *Genetic Variation
MH  - Humans
MH  - Melatonin/physiology
MH  - Molecular Sequence Data
MH  - Mutagenesis, Site-Directed
MH  - *Mutation, Missense
MH  - *Point Mutation
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - Receptors, Cell Surface/chemistry/*genetics/metabolism
MH  - Receptors, Cytoplasmic and Nuclear/chemistry/*genetics/metabolism
MH  - Receptors, Melatonin
MH  - Recombinant Proteins/chemistry/metabolism
MH  - Sleep Wake Disorders/*genetics/physiopathology
EDAT- 1999/09/02 00:00
MHDA- 1999/09/02 00:01
CRDT- 1999/09/02 00:00
PHST- 1999/09/02 00:00 [pubmed]
PHST- 1999/09/02 00:01 [medline]
PHST- 1999/09/02 00:00 [entrez]
AID - 10.1006/bbrc.1999.1308 [doi]
AID - S0006-291X(99)91308-6 [pii]
PST - ppublish
SO  - Biochem Biophys Res Commun. 1999 Sep 7;262(3):832-7. doi: 10.1006/bbrc.1999.1308.