Alleic Variants of Human Melatonin 1a Receptor: Function and Prevalence in Subjects with Circadian Rhythm Sleep Disorders

Alleic Variants of Human Melatonin 1a Receptor: Function and Prevalence in Subjects with... 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Biochemical and Biophysical Research Communications Elsevier

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Publisher
Elsevier
Copyright
Copyright © 1999 Academic Press
ISSN
0006-291x
DOI
10.1006/bbrc.1999.1308
Publisher site
See Article on Publisher Site

Abstract

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.

Journal

Biochemical and Biophysical Research CommunicationsElsevier

Published: Sep 7, 1999

References

  • Biochim. Biophys. Acta.
    Barret, P.; Conway, S.; Jockers, R.; Strosberg, A.D.; Guardiola-Lemaitre, B.; Delagrange, P.; Morgan, P.J.

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