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 |
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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 |
format | Article |
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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-</description><identifier>ISSN: 0304-3940</identifier><identifier>EISSN: 1872-7972</identifier><identifier>DOI: 10.1016/S0304-3940(99)00981-7</identifier><identifier>PMID: 10696804</identifier><identifier>CODEN: NELED5</identifier><language>eng</language><publisher>Shannon: Elsevier Ireland Ltd</publisher><subject>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</subject><ispartof>Neuroscience letters, 2000-02, Vol.280 (1), p.29-32</ispartof><rights>2000 Elsevier Science Ireland Ltd</rights><rights>2000 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c487t-99e06285a63d6a2589493da60c5b998bec09420e8b7feadea32e2e13695c4cd33</citedby><cites>FETCH-LOGICAL-c487t-99e06285a63d6a2589493da60c5b998bec09420e8b7feadea32e2e13695c4cd33</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0304394099009817$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3536,27903,27904,65309</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1278388$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10696804$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ebisawa, Takashi</creatorcontrib><creatorcontrib>Uchiyama, Makoto</creatorcontrib><creatorcontrib>Kajimura, Naofumi</creatorcontrib><creatorcontrib>Kamei, Yuichi</creatorcontrib><creatorcontrib>Shibui, Kayo</creatorcontrib><creatorcontrib>Kim, Keiko</creatorcontrib><creatorcontrib>Kudo, Yoshinao</creatorcontrib><creatorcontrib>Iwase, Toshio</creatorcontrib><creatorcontrib>Sugishita, Mariko</creatorcontrib><creatorcontrib>Jodoi, Takako</creatorcontrib><creatorcontrib>Ikeda, Masaaki</creatorcontrib><creatorcontrib>Ozeki, Yuji</creatorcontrib><creatorcontrib>Watanabe, Tsuyoshi</creatorcontrib><creatorcontrib>Sekimoto, Masanori</creatorcontrib><creatorcontrib>Katoh, Masaaki</creatorcontrib><creatorcontrib>Yamada, Naoto</creatorcontrib><creatorcontrib>Toyoshima, Ryoichi</creatorcontrib><creatorcontrib>Okawa, Masako</creatorcontrib><creatorcontrib>Takahashi, Kiyohisa</creatorcontrib><creatorcontrib>Yamauchi, Toshio</creatorcontrib><title>Genetic polymorphisms of human melatonin 1b receptor gene in circadian rhythm sleep disorders and controls</title><title>Neuroscience letters</title><addtitle>Neurosci Lett</addtitle><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-</description><subject>Adult</subject><subject>Amino Acid Substitution</subject><subject>Biological and medical sciences</subject><subject>Circadian Rhythm</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene</subject><subject>Gene Frequency</subject><subject>Genetic Carrier Screening</subject><subject>Hormones and neuropeptides. Regulation</subject><subject>Human</subject><subject>Humans</subject><subject>Hypothalamus. Hypophysis. Epiphysis. Urophysis</subject><subject>Male</subject><subject>melatonin 1B receptors</subject><subject>Melatonin receptor</subject><subject>Mutagenesis, Site-Directed</subject><subject>Mutation, Missense</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism</subject><subject>Polymorphism, Genetic</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Receptors, Cell Surface - genetics</subject><subject>Receptors, Cytoplasmic and Nuclear - genetics</subject><subject>Receptors, Melatonin</subject><subject>Reference Values</subject><subject>Single strand conformational polymorphism analysis</subject><subject>Sleep - physiology</subject><subject>Sleep disorders</subject><subject>Sleep Wake Disorders - genetics</subject><subject>Sleep Wake Disorders - physiopathology</subject><subject>Vertebrates: endocrinology</subject><subject>Wakefulness - physiology</subject><issn>0304-3940</issn><issn>1872-7972</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0E1rFDEYwPEgit1WP4KSg0g9TE0m76ciRVuh0IN6DpnkGTdlJhmTWWG_vWl3UW89BcLveRL-CL2h5IISKj9-I4zwjhlOzo35QIjRtFPP0IZq1XfKqP452vwlJ-i01ntCiKCCv0QnlEgjNeEbdH8NCdbo8ZKn_ZzLso11rjiPeLubXcIzTG7NKSZMB1zAw7Lmgn-2IdzufCzehdhc2e7X7YzrBLDgEGsuAUrFLgXsc1pLnuor9GJ0U4XXx_MM_fjy-fvVTXd7d_316tNt57lWa2cMENlr4SQL0vVCG25YcJJ4MRijB_DE8J6AHtQILoBjPfRAmTTCcx8YO0PvD3uXkn_toK52jtXDNLkEeVctVZJzIUyD4gB9ybUWGO1S4uzK3lJiHyLbx8j2oaA1xj5GtqrNvT0-sBtmCP9NHao28O4IXPVuGotLPtZ_rleaad3Y5YFBq_E7QrHVR0geQmylVxtyfOInfwB3a5pR</recordid><startdate>20000211</startdate><enddate>20000211</enddate><creator>Ebisawa, Takashi</creator><creator>Uchiyama, Makoto</creator><creator>Kajimura, Naofumi</creator><creator>Kamei, Yuichi</creator><creator>Shibui, Kayo</creator><creator>Kim, Keiko</creator><creator>Kudo, Yoshinao</creator><creator>Iwase, Toshio</creator><creator>Sugishita, Mariko</creator><creator>Jodoi, Takako</creator><creator>Ikeda, Masaaki</creator><creator>Ozeki, Yuji</creator><creator>Watanabe, Tsuyoshi</creator><creator>Sekimoto, Masanori</creator><creator>Katoh, Masaaki</creator><creator>Yamada, Naoto</creator><creator>Toyoshima, Ryoichi</creator><creator>Okawa, Masako</creator><creator>Takahashi, Kiyohisa</creator><creator>Yamauchi, Toshio</creator><general>Elsevier Ireland Ltd</general><general>Elsevier</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope></search><sort><creationdate>20000211</creationdate><title>Genetic polymorphisms of human melatonin 1b receptor gene in circadian rhythm sleep disorders and controls</title><author>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</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c487t-99e06285a63d6a2589493da60c5b998bec09420e8b7feadea32e2e13695c4cd33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Adult</topic><topic>Amino Acid Substitution</topic><topic>Biological and medical sciences</topic><topic>Circadian Rhythm</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene</topic><topic>Gene Frequency</topic><topic>Genetic Carrier Screening</topic><topic>Hormones and neuropeptides. Regulation</topic><topic>Human</topic><topic>Humans</topic><topic>Hypothalamus. Hypophysis. Epiphysis. Urophysis</topic><topic>Male</topic><topic>melatonin 1B receptors</topic><topic>Melatonin receptor</topic><topic>Mutagenesis, Site-Directed</topic><topic>Mutation, Missense</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism</topic><topic>Polymorphism, Genetic</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Receptors, Cell Surface - genetics</topic><topic>Receptors, Cytoplasmic and Nuclear - genetics</topic><topic>Receptors, Melatonin</topic><topic>Reference Values</topic><topic>Single strand conformational polymorphism analysis</topic><topic>Sleep - physiology</topic><topic>Sleep disorders</topic><topic>Sleep Wake Disorders - genetics</topic><topic>Sleep Wake Disorders - physiopathology</topic><topic>Vertebrates: endocrinology</topic><topic>Wakefulness - physiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ebisawa, Takashi</creatorcontrib><creatorcontrib>Uchiyama, Makoto</creatorcontrib><creatorcontrib>Kajimura, Naofumi</creatorcontrib><creatorcontrib>Kamei, Yuichi</creatorcontrib><creatorcontrib>Shibui, Kayo</creatorcontrib><creatorcontrib>Kim, Keiko</creatorcontrib><creatorcontrib>Kudo, Yoshinao</creatorcontrib><creatorcontrib>Iwase, Toshio</creatorcontrib><creatorcontrib>Sugishita, Mariko</creatorcontrib><creatorcontrib>Jodoi, Takako</creatorcontrib><creatorcontrib>Ikeda, Masaaki</creatorcontrib><creatorcontrib>Ozeki, Yuji</creatorcontrib><creatorcontrib>Watanabe, Tsuyoshi</creatorcontrib><creatorcontrib>Sekimoto, Masanori</creatorcontrib><creatorcontrib>Katoh, Masaaki</creatorcontrib><creatorcontrib>Yamada, Naoto</creatorcontrib><creatorcontrib>Toyoshima, Ryoichi</creatorcontrib><creatorcontrib>Okawa, Masako</creatorcontrib><creatorcontrib>Takahashi, Kiyohisa</creatorcontrib><creatorcontrib>Yamauchi, Toshio</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><jtitle>Neuroscience letters</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ebisawa, Takashi</au><au>Uchiyama, Makoto</au><au>Kajimura, Naofumi</au><au>Kamei, Yuichi</au><au>Shibui, Kayo</au><au>Kim, Keiko</au><au>Kudo, Yoshinao</au><au>Iwase, Toshio</au><au>Sugishita, Mariko</au><au>Jodoi, Takako</au><au>Ikeda, Masaaki</au><au>Ozeki, Yuji</au><au>Watanabe, Tsuyoshi</au><au>Sekimoto, Masanori</au><au>Katoh, Masaaki</au><au>Yamada, Naoto</au><au>Toyoshima, Ryoichi</au><au>Okawa, Masako</au><au>Takahashi, Kiyohisa</au><au>Yamauchi, Toshio</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic polymorphisms of human melatonin 1b receptor gene in circadian rhythm sleep disorders and controls</atitle><jtitle>Neuroscience letters</jtitle><addtitle>Neurosci Lett</addtitle><date>2000-02-11</date><risdate>2000</risdate><volume>280</volume><issue>1</issue><spage>29</spage><epage>32</epage><pages>29-32</pages><issn>0304-3940</issn><eissn>1872-7972</eissn><coden>NELED5</coden><abstract>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-</abstract><cop>Shannon</cop><pub>Elsevier Ireland Ltd</pub><pmid>10696804</pmid><doi>10.1016/S0304-3940(99)00981-7</doi><tpages>4</tpages></addata></record> |
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language | eng |
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source | MEDLINE; Elsevier ScienceDirect Journals |
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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