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Alleic variants of human melatonin 1a receptor: function and prevalence in subjects with circadian rhythm sleep disorders.
Biochem Biophys Res Commun. 1999 Sep 07; 262(3):832-7.BB

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.

Authors+Show Affiliations

Department of Psychiatry, Saitama Medical School, Saitama, Japan. tebisawa@saitama-med.ac.jpNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10471411

Citation

Ebisawa, T, et al. "Alleic Variants of Human Melatonin 1a Receptor: Function and Prevalence in Subjects With Circadian Rhythm Sleep Disorders." Biochemical and Biophysical Research Communications, vol. 262, no. 3, 1999, pp. 832-7.
Ebisawa T, Kajimura N, Uchiyama M, et al. Alleic variants of human melatonin 1a receptor: function and prevalence in subjects with circadian rhythm sleep disorders. Biochem Biophys Res Commun. 1999;262(3):832-7.
Ebisawa, T., Kajimura, N., Uchiyama, M., Katoh, M., Sekimoto, M., Watanabe, T., Ozeki, Y., Ikeda, M., Jodoi, T., Sugishita, M., Iwase, T., Kamei, Y., Kim, K., Shibui, K., Kudo, Y., Yamada, N., Toyoshima, R., Okawa, M., Takahashi, K., & Yamauchi, T. (1999). Alleic variants of human melatonin 1a receptor: function and prevalence in subjects with circadian rhythm sleep disorders. Biochemical and Biophysical Research Communications, 262(3), 832-7.
Ebisawa T, et al. Alleic Variants of Human Melatonin 1a Receptor: Function and Prevalence in Subjects With Circadian Rhythm Sleep Disorders. Biochem Biophys Res Commun. 1999 Sep 7;262(3):832-7. PubMed PMID: 10471411.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Alleic variants of human melatonin 1a receptor: function and prevalence in subjects with circadian rhythm sleep disorders. AU - Ebisawa,T, AU - Kajimura,N, AU - Uchiyama,M, AU - Katoh,M, AU - Sekimoto,M, AU - Watanabe,T, AU - Ozeki,Y, AU - Ikeda,M, AU - Jodoi,T, AU - Sugishita,M, AU - Iwase,T, AU - Kamei,Y, AU - Kim,K, AU - Shibui,K, AU - Kudo,Y, AU - Yamada,N, AU - Toyoshima,R, AU - Okawa,M, AU - Takahashi,K, AU - Yamauchi,T, PY - 1999/9/2/pubmed PY - 1999/9/2/medline PY - 1999/9/2/entrez SP - 832 EP - 7 JF - Biochemical and biophysical research communications JO - Biochem Biophys Res Commun VL - 262 IS - 3 N2 - 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. SN - 0006-291X UR - https://www.unboundmedicine.com/medline/citation/10471411/Alleic_variants_of_human_melatonin_1a_receptor:_function_and_prevalence_in_subjects_with_circadian_rhythm_sleep_disorders_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0006-291X(99)91308-6 DB - PRIME DP - Unbound Medicine ER -