Moléculas que marcamotempo: ImplicacõEs para os fenótipos circadianos;Timekeeping molecules: Implications for circadian phenotypes

Revista Brasileira de Psiquiatria

Volumn 31, Issue 1, 2009, Pages 63-71

  Pereira, Danyella Silva ^a   Tufik, Sergio ^a   Pedrazzoli, Mario ^a,b  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^b Rua Napoleão de Barros   (Brazil)

Author keywords

Cronobiologia; Ritmo circadiano; Sono; Transtornos do humor; Transtornos do sono

Indexed keywords

CRYPTOCHROME 1; CRYPTOCHROME 2; PER1 PROTEIN; PROTEIN BMAL1; PROTEIN TIMELESS; TRANSCRIPTION FACTOR CLOCK;

ADVANCED SLEEP PHASE SYNDROME; ARTICLE; CHRONOBIOLOGY; CIRCADIAN RHYTHM; DELAYED SLEEP PHASE SYNDROME; GENETIC POLYMORPHISM; HUMAN; JET LAG; MOOD DISORDER; PHENOTYPE; PHOTOPERIODICITY; SHIFT WORKER; SLEEP DISORDER; BIOLOGICAL RHYTHM; GENETICS; PATHOPHYSIOLOGY; PHYSIOLOGY; REVIEW; SLEEP; SLEEP STAGE;

BIOLOGICAL CLOCKS; CIRCADIAN RHYTHM; HUMANS; MOOD DISORDERS; PHENOTYPE; SLEEP; SLEEP DISORDERS; SLEEP STAGES;

EID: 67149144431     PISSN: 15164446     EISSN: None     Source Type: Journal    
DOI: 10.1590/S1516-44462009000100015     Document Type: Article

References (83)

1. Moore RY, Eicher VB. Loss of a circadian adrenal corticosterone rhythm following suprachiasmatic lesions in the rat. Brain Res. 1972;42(1):201-6.
2. Stephan FK, Zucker I. Circadian rhythms in drinking behavior and locomotor activity of rats are eliminated by hypothalamic lesions. Proc Natl Acad Sci U S A. 1972;69(6):1583-6.
3. Weaver DR. The suprachiasmatic nucleus: a 25-year retrospective. Biol Rhythms. 1998;13(2):100-12.
4. Wittmann M, Dinich J, Merrow M, Roenneberg T. Social jetlag: misalignment of biological and social time. Chronobiol Int. 2006;23(1-2):497-509.
5. Katzenberg D, Young T, Finn L, Lin L, King DP, Takahashi JS, Mignot E. A CLOCK polymorphism associated with human diurnal preference. Sleep. 1998;21(6):569-76.
6. Pedrazzoli M, Pereira DS. 24h Timing molecules: implications for circadian rhythms phenotypes in humans. Hypnos. 2004;1(1):130-41.
7. Pedrazzoli M, Louzada FM, Pereira DS, Benedito-Silva AA, Lopez AR, Martynhak BJ, Korczak AL, Koike Bdel V, Barbosa AA, D'Almeida V, Tufik S. Clock polymorphisms and circadian rhythms phenotypes in a sample of the Brazilian population. Chronobiol Int. 2007;24(1):1-8.
8. Pereira DS, Tufik S, Louzada FM, Benedito-Silva AA, Lopez AR, Lemos NA, Korczak AL, D'Almeida V, Pedrazzoli M. Association of the length polymorphism in the human Per3 gene with the delayed sleep-phase syndrome: does latitude have an influence upon it? Sleep. 2005;28(1):29-32.
9. Konopka RJ, Benzer S. Clock Mutants of Drosophila Dielanogaster. Proc Natl Acad Sci USA. 1971;68(9):2112-6.
10. Lowrey PL, Shimomura K, Antoch MP, Yamazaki S, Zemenides PD, Ralph MR, Menaker M, Takahashi JS. Positional syntetic cloning and functional characterization of the mammalian circadian mutation tau. Science. 2000;288(5465):483-91.
11. Ralph MR, Menaker M. A mutation of the circadian system in golden hamsters. Science. 1988;241(4870):1225-7.
12. Shearman LP, Zylka MJ, Reppert SM, Weaver DR. Expression of basic helix-loop-helix/PAS genes in the mouse suprachiasmatic nucleus. Neuroscience. 1999;89(2):387-97.
13. Vitaterna MH, King DP, Chang AM, Kornhauser JM, Lowrey PL, McDonald JD, Dove WF, Pinto LH, Turek FW, Takahashi JS. Mutagenesis and mapping of a mouse gene, Clock, essential for circadian behavior. Science. 1994;264(5159):719-25.
14. Gekakis N, Staknis D, Nguyen HB, Davis FC, Wilsbacher LD, King DP, Takahashi JS, Weitz CJ. Role of the CLOCK protein in the mammalian circadian mechanism. Science. 1998;280(5369):1564-9.
15. Bunger MK, Wilsbacher LD, Moran SM, Clendenin C, Radcliffe LA, Hogenesch JB, Simon MC, Takahashi JS, Bradfield CA. Mop3 is an essential component of the master circadian pacemaker in mammals. Cell. 2000;103(7):1009-17.
16. Maler T, Ralph MR, Gorczynski RM, Moldofsky H, O'Dowd BF, Du DC. The Drosophila per gene homologs are expressed in mammalian suprachiasmatic nucleus and heart as well as in molluscan eyes. Biochem Biophys Res Commun. 1992;184(2):1082-7.
17. Tei H, Okamura H, Shigeyoshi Y, Fukuhara C, Ozawa R, Hirose M, Sakaki Y. Circadian oscillation of a mammalian homologue of the Drosophila period gene. Nature. 1997;389(6650):512-6.
18. Takumi T, Matsubara C, Shigeyoshi Y, Taguchi K, Yagita K, Maebayashi Y, Sakakida Y, Okumura K, Takashima N, Okamura H. A new mammalian period gene predominantly expressed in the suprachiasmatic nucleus. Genes Cells. 1998;3(3):167-76.
19. Takumi T, Taguchi K, Miyake S, Sakakida Y, Takashima N, Matsubara C, Maebayashi Y, Okumura K, Takekida S, Yamamoto S, Yagita K, Yan L, Young MW, Okamura H. A light-independent oscillatory gene mPer3 in mouse SCN and OVLT. EMBO J. 1998;17(16):4753-9.
20. Zylka MJ, Shearman LP, Weaver DR, Reppert SM. Three period homologs in mammals: differential light responses in the suprachiasmatic circadian clock and oscillating transcripts outside of brain. Neuron. 1998;20(6):1103-10.
21. Dunlap JC, Loros JJ, Liu Y, Crosthwaite SK. Eukaryotic circadian systems: cycles in common. Genes Cells. 1999;4(1):1-10.
22. Vitaterna MH. Takahashi JS, Turek FW. Overview of circadian rhythms. Alcohol Res Health. 2001;25(2):85-93.
23. Shearman LP, Jin X, Lee C, Reppert SM, Weaver DR. Targeted disruption of the mPer3 gene: subtle effects on circadian clock function. Mol Cell Biol. 2000;20(17):6269-75.
24. Hsu DS, Zhao X, Zhao S, Kazantsev A, Wang RP, Todo T, Wei YF, Sancar A. Putative human blue-light photoreceptors hCRY1 and hCRY2 are flavoproteins. Biochemistry. 1996;35(44):13871-7.
25. Todo T, Ryo H, Yamamoto K, Toh H, Inui T, Ayaki H, Nomura T, Ikenaga M. Similarity among the Drosophila (6-4) photolyase, a human photolyase homolog, and the DNA photolyase-blue-light photoreceptor family. Science. 1996;272(5258):109-12.
26. van der Spek PJ, Kobayashi K, Bootsma D, Takao M, Eker AP, Yasui A. Cloning, tissue expression, and mapping of a human photolyase homolog with similarity to plant blue-light receptors. Genomics. 1996;37(2):177-82.
27. Stanewsky R, Kaneko M, Emery P, Beretta B, Wager-Smith K, Kay SA, Rosbash M, Hall JC. The cryb mutation identifies cryptochrome as a circadian photoreceptor in Drosophila. Cell. 1998;95(5):681-92.
28. Griffin Jr. EA; Staknis D, Weitz CJ. Light-independent role of CRY1 and CRY2 in the mammalian circadian clock. Science. 1999;286(5440):768-71.
29. van der Horst GTJ, Muijtjens M, Kobayashi K, Takano R, Kanno S, Takao M, Wit J, Verkerk A, Eker AP, Leenen D, Buijs R, Bootsma D, Hoeijmakers JH, Yasui AA. Mammalian Cry1 and Cry2 are essential for maintenance of circadian rhythms. Nature. 1999;398(6728):627-30.
30. Sehgal A, Price JL, Man B, Young MW. Loss of circadian behavioral rhythms and per RNA oscillations in the Drosophila mutant timeless. Science. 1994;263(5153):1603-6.
31. Koike N, Hida A, Numano R, Hirose M, Sakaki Y, Tei H. Identification of the mammalian homologues of the Drosophila timeless gene, Timeless1. FEBS Lett. 1998;441(3):427-31.
32. Sangoram AM, Saez L, Antoch MP, Gekakis N, Staknis D, Whiteley A, Fruech. Mammalian circadian autoregulatory loop: a timeless ortholog and mPer1 interact and negatively regulate CLOCK-BMAL1-induced transcription. Neuron. 1998;21(5):1101-13.
33. Zylka MJ, Shearman LP, Levine JD, Jin X, Weaver DR, Reppert SM. Molecular analysis of mammalian timeless. Neuron. 1998;21(5):1115-22.
34. Takumi T, Nagamine Y, Miyake S, Matsubara C, Taguchi K, Takekida S, Sakakida Y, Nishikawa K, Kishimoto T, Niwa S, Okumura K, Okamura H. A mammalian ortholog of Drosophila timeless, highly expressed in SCN and retina, forms a complex with mPer1. Genes Cells. 1999;4(1):67-75.
35. Gotter AL, Manganaro T, Weaver DR, Kolakowski Jr. LF, Possidente B, Sriram S, MacLaughlin DT, Reppert SM. A time-less function for mouse timeless. Nat Neurosci. 2000;3(8):755-6.
36. Barnes JW, Tischkau SA, Barnes JA, Mitchell JW, Burgoon PW, Hickok JR, Gillette MU. Requirement of mammalian Timeless for circadian rhythmicity. Science. 2003;302(5644):439-42.
37. Lindebro MC, Poellinger L, Whitelaw ML. Protein-protein interaction via PAS domains: role of the PAS domain in positive and negative regulation of the bHLH/PAS dioxin receptor-Arnt transcription factor complex. EMBO J. 1995;14(14):3528-39.
38. Shearman LP, Sriram S, Weaver DR, Maywood ES, Chaves I, Zheng B, Kume K, Lee CC, van der Horst GT, Hastings MH, Reppert SM. Interacting molecular loops in the mammalian circadian clock. Science. 2000;288(5468):1013-9.
39. Preitner N, Damiola F, Lopez-Molina L, Zakany J, Duboule D, Albrecht U, Schibler U. The orphan nuclear receptor REV-ERBalpha controls circadian transcription within the positive limb of the mammalian circadian oscillator. Cell. 2002;110(2):251-60.
40. Sato TK, Panda S, Miraglia LJ, Reyes TM, Rudic RD, McNamara P, Naik KA, FitzGerald GA, Kay SA, Hogenesch JB. A functional genomics strategy reveals Rora as a component of the mammalian circadian clock. Neuron. 2004;43(4):527-37.
41. Honma S, Kawamoto T, Takagi Y, Fujimoto K, Sato F, Noshiro M, Kato Y, Honma K. Dec1 and Dec2 are regulators of the mammalian molecular clock. Nature. 2002;419(6909):841-4.
42. Gallego M, Virshup DM. Post-translational modifications regulate the ticking of the circadian clock. Nat Rev Mol Cell Biol. 2007;8(2):139-48.
43. American Sleep Disorders Association - ASDA. The International Classification of Sleep Disorders. Revised. Rochester: American Sleep Disorder Association; 1997. 128-40.
44. 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, Yamauchi T. Association of structural polymorphisms in the human period3 gene with delayed sleep phase syndrome. EMBO Rep. 2001;2(4):342-6.
45. Wakatsuki Y, Kudo T, Shibata S. Constant light housing during nursing causes human DSPS (delayed sleep phase syndrome) behaviour in Clock-mutant mice. Eur J Neurosci. 2007;25(8):2413-24.
46. Robilliard DL, Archer SN, Arendt J, Lockley SW, Hack LM, English J, Leger D, Smits MG, Williams A, Skene DJ, Von Schantz M. The 3111 Clock gene polymorphism is not associated with sleep and circadian rhythmicity in phenotypically characterized human subjects. J Sleep Res. 2002;11(4):305-12.
47. Archer SN, Robilliard DL, Skene DJ, Smits M, Williams A, Arendt J, von Schantz M. A length polymorphism in the circadian clock gene Per3 is linked to delayed sleep phase syndrome and extreme diurnal preference. Sleep. 2003;26(4):413-5.
48. Carpen JD, von Schantz M, Smits M, Skene DJ, Archer SN. A silent polymorphism in the PER1 gene associates with extreme diurnal preference in humans. J Hum Genet. 2006;51(12):1122-5.
49. Carpen JD, Archer SN, Skene DJ, Smits M, von Schantz M. A single-nucleotide polymorphism in the 5'-untranslated region of the hPER2 gene is associated with diurnal preference. J Sleep Res. 2005;14(3):293-7.
50. Gottesmann C. Is the delayed sleep phase syndrome a physical or psychological disease? A case report of disappearance following a change of latitude. Psychiatry Clin Neurosci. 2000;54(5):543-6.
51. Benedito-Silva AA, Pires ML, Calil HM. Seasonal variation of suicide in Brazil. Chronobiol Int. 2007;24(4):727-37.
52. Viola AU, Archer SN, James LM, Groeger JA, Lo JC, Skene DJ, von Schantz M, Dijk DJ. PER3 polymorphism predicts sleep structure and waking performance. Curr Biol. 2007;17(7):613-8.
53. Ancoli-Israel S, Schnierow B, Kelsoe J, Fink R. A pedigree of one family with delayed sleep phase syndrome. Chronobiol Int. 2001;18(5):831-40.
54. Reid KJ, Chang AM, Dubocovich ML, Turek FW, Takahashi JS, Zee PC. Familial advanced sleep phase syndrome. Arch Neurol. 2001;58(7):1089-94.
55. Toh KL, Jones CR, He Y, Eide EJ, Hinz WA, Virshup DM, PtÁcek LJ, Fu YH. An hPer2 Phosphorylation site mutation in familial advanced sleep phase syndrome. Science. 2001;291(5506):1040-3.
56. Xu Y, Toh KL, Jones CR, Shin JY, Fu YH, Ptacek LJ. Modeling of a human circadian mutation yields insights into clock regulation by PER2. Cell. 2007;128(1):59-70.
57. Beck-Friis J, Ljunggren JG, ThorÉn M, von Rosen D, Kjellman BF, Wetterberg L. Melatonin, cortisol and ACTH in patients with major depressive disorder and healthy humans with special reference to the outcome of the dexamethasone suppression test. Psychoneuroendocrinology. 1985;10(2):173-86.
58. Lee MA, Taylor MA. Cortisol suppression and circadian rhythm in endogenous depression: a preliminary report. Biol Psychiatry. 1983;18(10):1127-32.
59. Turek FW. From circadian rhythms to clock genes in depression. Int Clin Psychopharmacol. 2007;Suppl 2:S1-8.
60. Wichers MC, Myin-Germeys I, Jacobs N, Kenis G, Derom C, Vlietinck R, Delespaul P, Mengelers R, Peeters F, Nicolson N, Van Os J. Susceptibility to depression expressed as alterations in cortisol day curve: a cross-twin, cross-trait study. Psychosom Med. 2008;70(3):314-8.
61. Lam RW, Levitt AJ, Levitan RD, Enns MW, Morehouse R, Michalak EE, Tam EM. The Can-SAD study: a randomized controlled trial of the effectiveness of light therapy and fluoxetine in patients with winter seasonal affective disorder. Am J Psychiatry. 2006;163(5):805-12.
62. Perlis RH. Treatment of bipolar disorder: the evolving role of atypical antipsychotics. Am J Manag Care. 2007;13(7 Suppl):S178-88.
63. Erratum in: Am J Manag Care. 2008;14(2):76.
64. Soares-Weiser K, Bravo Vergel Y, Beynon S, Dunn G, Barbieri M, Duffy S, Geddes J, Gilbody S, Palmer S, Woolacott N. A systematic review and economic model of the clinical effectiveness and cost-effectiveness of interventions for preventing relapse in people with bipolar disorder. Health Technol Assess. 2007;11(39):iii-iv, ix-206.
65. Storosum JG, Wohlfarth T, Schene A, Elferink A, van Zwieten BJ, van den Brink W. Magnitude of effect of lithium in short-term efficacy studies of moderate to severe manic episode. Bipolar Disord. 2007;9(8):793-8.
66. Yin L, Wang J, Klein PS, Lazar MA. Nuclear receptor Rev-erbalpha is a critical lithium-sensitive component of the circadian clock. Science. 2006;311(5763):1002-5.
67. Collins B, Blau J. Keeping time without a clock. Neuron. 2006;50(3):348-50.
68. Kondratov RV, Kondratova AA, Gorbacheva VY, Vykhovanets OV, Antoch MP. Early aging and age-related pathologies in mice deficient in BMAL1, the core componentof the circadian clock. Genes Dev. 2006;20(14):1868-73.
69. Althoff RR, Faraone SV, Rettew DC, Morley CP, Hudziak JJ. Family, twin, adoption, and molecular genetic studies of juvenile bipolar disorder. Bipolar Disord. 2005;7(6):598-609.
70. McGuffin P, Rijsdijk F, Andrew M, Sham P, Katz R, Cardno A. The heritability of bipolar affective disorder and the genetic relationship to unipolar depression. Arch Gen Psychiatry. 2003;60(5):497-502.
71. Smoller JW, Finn CT. Family, twin, and adoption studies of bipolar disorder. Am J Med Genet C Semin Med Genet. 2003;123(1):48-58.
72. Artioli P, Lorenzi C, Pirovano A, Serretti A, Benedetti F, Catalano M, Smeraldi E. How do genes exert their role? Period 3 gene variants and possible influences on mood disorder phenotypes. Eur Neuropsychopharmacol. 2007;17(9):587-94.
73. Bailer U, Wiesegger G, Leisch F, Fuchs K, Leitner I, Letmaier M, Konstantinidis A, Stastny J, Sieghart W, Hornik K, Mitterauer B, Kasper S, Aschauer HN. No association of clock gene T3111C polymorphism and affective disorders. Eur Neuropsychopharmacol. 2005;15(1):51-5.
74. Benedetti F, Serretti A, Colombo C, Barbini B, Lorenzi C, Campori E, Smeraldi E. Influence of CLOCK gene polymorphism on circadian mood fluctuation and illness recurrence in bipolar depression. Am J Med Genet B Neuropsychiatr Genet. 2003;123(1):23-6.
75. Benedetti F, Dallaspezia S, Fulgosi MC, Lorenzi C, Serretti A, Barbini B, Colombo C, Smeraldi E. Actimetric evidence that CLOCK 3111 T/C SNP influences sleep and activity patterns in patients affected by bipolar depression. Am J Med Genet B Neuropsychiatr Genet. 2007;144(5):631-5.
76. Mansour HA, Wood J, Logue T, Chowdari KV, Dayal M, Kupfer DJ, Monk TH, Devlin B, Nimgaonkar VL. Association study of eight circadian genes with bipolar I disorder, schizoaffective disorder and schizophrenia. Genes Brain Behav. 2006;5(2):150-7.
77. Nievergelt CM, Kripke DF, Barrett TB, Burg E, Remick RA, Sadovnick AD, McElroy SL, Keck PE Jr, Schork NJ, Kelsoe JR. Suggestive evidence for association of the circadian genes PERIOD3 and ARNTL with bipolar disorder. Am J Med Genet B Neuropsychiatr Genet. 2006;141(3):234-41.
78. Partonen T, Treutlein J, Alpman A, Frank J, Johansson C, Depner M, Aron L, Rietschel M, Wellek S, Soronen P, Paunio T, Koch A, Chen P, Lathrop M, Adolfsson R, Persson ML, Kasper S, Schalling M, Peltonen L, Schumann G. Three circadian clock genes Per2, Arntl, and Npas2 contribute to winter depression. Ann Med. 2007;39(3):229-38.
79. Serretti A, Benedetti F, Mandelli L, Lorenzi C, Pirovano A, Colombo C, Smeraldi E. Genetic dissection of psychopathological symptoms: insomnia in mood disorders and CLOCK gene polymorphism. Am J Med Genet B Neuropsychiatr Genet. 2003;121(1):35-8.
80. Serretti A, Cusin C, Benedetti F, Mandelli L, Pirovano A, Zanardi R, Colombo C, Smeraldi E. Insomnia improvement during antidepressant treatment and CLOCK gene polymorphism. Am J Med Genet B Neuropsychiatr Genet. 2005;137(1):36-9.
81. Roybal K, Theobold D, Graham A, DiNieri JA, Russo SJ, Krishnan V, Chakravarty S, Peevey J, Oehrlein N, Birnbaum S, Vitaterna MH, Orsulak P, Takahashi JS, Nestler EJ, Carlezon WA Jr, McClung CA. Mania-like behavior induced by disruption of CLOCK. Proc Natl Acad Sci U S A. 2007;104(15):6406-11.
82. Desan PH, Oren DA, Malison R, Price LH, Rosenbaum J, Smoller J, Charney DS, Gelernter J. Genetic polymorphism at the CLOCK gene locus and major depression. Am J Med Genet. 2000;96(3):418-21.
83. Yang S, Van Dongen HP, Wang K, Berrettini W, Bućan M. Assessment of circadian function in fibroblasts of patients with bipolar disorder. Mol Psychiatry. 2008;14(2):143-55.