The 3111 Clock gene polymorphism is not associated with sleep and circadian rhythmicity in phenotypically characterized human subjects

Journal of Sleep Research

Volumn 11, Issue 4, 2002, Pages 305-312

  Robilliard, Donna L ^a   Archer, Simon N ^a   Arendt, Josephine ^a   Lockley, Steven W ^a   Hack, Lisa M ^a   English, Judie ^a   Leger, Damien ^b   Smits, Marcel G ^c   Williams, Adrian ^d   Skene, Debra J ^a   Von Schantz, Malcolm ^a  

^a UNIVERSITY OF SURREY   (United Kingdom)

^b Centre du Sommeil Hotel Dieu   (France)

^c GELDERSE VALLEI HOSPITAL   (Netherlands)

^d ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

3 untranslated region; Circadian rhythm sleep disorder; Messenger RNA; Single nucleotide polymorphism

Indexed keywords

LUCIFERASE; MESSENGER RNA;

3' UNTRANSLATED REGION; ADULT; ANIMAL CELL; ARTICLE; CIRCADIAN RHYTHM; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; MALE; NIGHT; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; QUESTIONNAIRE; REPORTER GENE; RNA TRANSLATION; SLEEP; SLEEP DISORDER; WAKEFULNESS;

ALLELES; CELL CULTURE TECHNIQUES; CIRCADIAN RHYTHM; DNA PRIMERS; FEMALE; HUMANS; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, GENETIC; QUESTIONNAIRES; RNA, MESSENGER; SLEEP; TRANS-ACTIVATORS;

EID: 18744372708     PISSN: 09621105     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2869.2002.00320.x     Document Type: Article

References (28)

1. American Sleep Disorders Association. ICSD. - International Classification of Sleep Disorders: Diagnostic and Coding Manual. American Sleep Disorders Association, Rochester, MN, USA, 1990.
2. Ancoli-Israel, S., Schnierow, B., Kelsoe, J. and Fink, R. A pedigree of one family with delayed sleep phase syndrome. Chronobiol. Int., 2001, 18: 831-840.
3. Balsalobre, A., Brown, S. A., Marcacci, L., Tronche, F., Kellendonk, C., Reichardt, H. M., Schutz, G. and Schibler, U. Resetting of circadian time in peripheral tissues by glucocorticoid signaling. Science, 2000, 289: 2344-2347.
4. Carrier, J., Monk, T. H., Buysse, D. J. and Kupfer, D. J. Sleep and morningness-eveningness in the 'middle' years of life (20-59 years). J. Sleep Res., 1997, 6: 230-237.
5. Chandler, V. L., Maler, B. A. and Yamamoto, K. R. DNA sequences bound specifically by glucocorticoid receptor in vitro render a heterologous promoter hormone responsive in vivo. Cell, 1983, 33: 489-499.
6. Duffy, J. F., Rimmer, D. W. and Czeisler, C. A. Association of intrinsic circadian period with morningness-eveningness, usual wake time, and circadian phase. Behav. Neurosci., 2001, 115: 895-899.
7. Ebisawa, T., Uchiyama, M., Kajimura, N., Mishima, K., Kamei, Y., Katoh, M., Watanabe, T., Sekimoto, M., Shibui, K., Kim, K., Kudo, Y., Ozeki, Y., Sugishita, M., Toyoshima, R., Inoue, Y., Yamada, N., Nagase, T., Ozaki, N., Ohara, O., Ishida, N., Okawa, M., Takahashi, K. and Yamauchi, T. Association of structural polymorphisms in the human period3 gene with delayed sleep phase syndrome. EMBO Rep., 2001, 2: 342-346.
8. English, J., Middleton, B. A., Arendt, J. and Wirz-Justice, A. Rapid direct measurement of melatonin in saliva using an iodinated tracer and solid phase second antibody. Ann. Clin. Biochem., 1993, 30: 415-416.
9. Horne, J. A. and Östberg, O. A self-assessment questionnaire to determine morningness-eveningness in human circadian rhythms. Int. J. Chronobiol., 1976, 4: 97-110.
10. Iwase, T., Kajimura, N., Uchiyama, M., Ebisawa, T., Yoshimura, K., Kamei, Y., Shibui, K., Kim, K., Kudo, Y., Katoh, M., Watanabe, T., Nakajima, T., Ozeki, Y., Sugishita, M., Hori, T., Ikeda, M., Toyoshima, R., Inoue, Y., Yamada, N., Mishima, K., Nomura, M., Ozaki, N., Okawa, M., Takahashi, K. and Yamauchi, T. Mutation screening of the human Clock gene in circadian rhythm sleep disorders. Psychiatry Res., 2002, 109: 121-128.
11. Katzenberg, D., Young, T., Finn, L., Lin, L., King, D. P., Takahashi, J. S. and Mignot, E. A CLOCK polymorphism associated with human diurnal preference. Sleep, 1998, 21: 569-576.
12. Lockley, S. W., Skene, D. J., Arendt, J., Tabandeh, H., Bird, A. C. and Defrance, R. Relationship between melatonin rhythms and visual loss in the blind. J. Clin. Endocrinol. Metab., 1997, 82: 3763-3770.
13. Mignone, F., Gissi, C., Liuni, S. and Pesole, G. Untranslated regions of mRNAs. Genome Biol., 2002, 3: S0004 (Review).
14. Nagtegaal, J. E., Kerkhof, G. A., Smits, M. G., Swart, A. C. and Van Der Meer, Y. G. Delayed sleep phase syndrome: A placebo-controlled cross-over study on the effects of melatonin administered five hours before the individual dim light melatonin onset. J. Sleep Res., 1998, 7: 135-143.
15. Naylor, E., Bergmann, B. M., Krauski, K., Zee, P. C., Takahashi, J. S., Vitaterna, M. H. and Turek, F. W. The circadian clock mutation alters sleep homeostasis in the mouse. J. Neurosci., 2000, 20: 8138-8143.
16. Newton, C. R., Graham, A., Heptinstall, L. E., Powell, S. J., Summers, C., Kalsheker, N., Smith, J. C. and Markham, A. F. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res., 1989, 17: 2503-2516.
17. Ohta, T. Circadian rhythms sleep disorders: A brief review with special reference to long-term follow-up. Nagoya J. Med. Sci., 1995, 58: 83-93.
18. Pesole, G., Liuni, S., Grillo, G., Ippedico, M., Larizza, A., Makalowski, W. and Saccone, C. UTRdb: A specialized database of 5′ and 3′ untranslated regions of eukaryotic mRNAs. Nucleic Acids Res., 1999, 27: 188-191.
19. Quandt, K., Frech, K., Karas, H., Wingender, E. and Werner, T. MatInd and MatInspector: New fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucleic Acids Res., 1995, 23: 4878-4884.
20. Reppert, S. M. and Weaver, D. R. Molecular analysis of mammalian circadian rhythms. Annual Rev. Physiol., 2001, 63: 647-676.
21. Schrader, H., Bovim, G. and Sand, T. The prevalence of delayed and advanced sleep phase syndromes. J. Sleep Res., 1993, 2: 51-55.
22. Steeves, T. D., King, D. P., Zhao, Y., Sangoram, A. M., Du, F., Bowcock, A. M., Moore, R. Y. and Takahashi, J. S. Molecular cloning and characterization of the human CLOCK gene: Expression in the suprachiasmatic nuclei. Genomics, 1999, 57: 189-200.
23. Toh, K. L., Jones, C. R., He, Y., Eide, E. J., Hinz, W. A., Virshup, D. M., Ptacek, L. J. and Fu, Y. H. An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. Science, 2001, 291: 1040-1043.
24. Travnickova-Bendova, Z., Cermakian, N., Reppert, S. M. and Sassone-Corsi, P. Bimodal regulation of mPeriod promoters by CREB-dependent signaling and CLOCK/BMAL1 activity. Proc. Natl. Acad. Sci. U S A, 2002, 99: 7728-7733.
25. Vink, J. M., Groot, A. S., Kerkhof, G. A. and Boomsma, D. I. Genetic analysis of morningness and eveningness. Chronobiol. Int., 2001, 18: 809-822.
26. Vitaterna, M. H., King, D. P., Chang, A.-M., Kornhauser, J. M., Lowrey, P. L., McDonald, J. D., Dove, W. F., Pinto, L. H., Turek, F. W. and Takahashi, J. S. Mutagenesis and mapping of a mouse gene, Clock, essential for circadian behavior. Science, 1994, 264: 719-725.
27. Weitzman, E. D., Czeisler, C. A., Coleman, R. M., Spielman, A. J., Zimmerman, J. C., Dement, W., Richardson, G. and Pollak, C. P. Delayed sleep phase syndrome. A chronobiological disorder with sleep-onset insomnia. Arch. Gen. Psychiatry, 1981, 38: 737-746.
28. Yazaki, M., Shirakawa, S., Okawa, M. and Takahashi, K. Demography of sleep disturbances associated with circadian rhythm disorders in Japan. Psychiatry Clin. Neurosci., 1999, 53: 267-268.