Molecular Genetic Basis for Mammalian Circadian Rhythms

Principles and Practice of Sleep Medicine

Volumn , Issue , 2005, Pages 363-374

  Vitaterna, Martha Hotz ^a   Pinto, Lawrence H ^a,b   Turek, Fred W ^c  

^a NORTHWESTERN UNIVERSITY   (United States)

^b Department of Neurobiology and Physiology ^*  (United States)

^c NORTHWESTERN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84882863958     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B0-72-160797-7/50037-9     Document Type: Chapter

References (112)

1. Moore RY, Eichler VB Loss of a circadian adrenal corticosterone rhythm following suprachiasmatic lesions in the rat. Brain Res 1972, 42:201-206.
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, 69:1583-1586.
3. Tosini G, Menaker M Circadian rhythms in cultured mammalian retina. Science 1996, 272:419-421.
4. Lehman MN, Silver R, Gladstone WR, et al. Circadian rhythmicity restored by neural transplant: Immunocytochemical characterization of the graft and its integration with the host brain. J Neurosci 1987, 7:1626-1638.
5. Ralph MR, Foster RG, Davis FC, Menaker M Transplanted suprachiasmatic nucleus determines circadian period. Science 1990, 247:975-978.
6. Yamazaki S, Numano R, Abe M, et al. Resetting central and peripheral circadian oscillators in transgenic rats. Science 2000, 288:682-685.
7. Yoo SH, Yamazaki S, Lowrey PL, et al. PERIOD2::LUCIFERASE real-time reporting of circadian dynamics reveals persistent circadian oscillations in mouse peripheral tissues. Proc Natl Acad Sci U S A 2004, 101:5339-5346.
8. Brown SA, Zumbrunn G, Fleury-Olela F, et al. Rhythms of mammalian body temperature can sustain peripheral circadian clocks. Curr Biol 2002, 12:1574-1583.
9. Stokkan KA, Yamazaki S, Tei H, et al. Entrainment of the circadian clock in the liver by feeding. Science 2001, 291:490-493.
10. Panda S, Antoch MP, Miller BH, et al. Coordinated transcription of key pathways in the mouse by the circadian clock. Cell 2002, 109:307-320.
11. Akhtar RA, Reddy AB, Maywood ES, et al. Circadian cycling of the mouse liver transcriptome, as revealed by cDNA microarray, is driven by the suprachiasmatic nucleus. Curr Biol 2002, 12:540-550.
12. Storch KF, Lipan O, Leykin I, et al. Extensive and divergent circadian gene expression in liver and heart. Nature 2002, 417:78-83.
13. Duffield GE, Best JD, Meurers BH, et al. Circadian programs of transcriptional activation, signaling, and protein turnover revealed by microarray analysis of mammalian cells. Curr Biol 2002, 12:551-557.
14. Silver R, LeSauter J, Tresco PA, Lehman MN A diffusible coupling signal from the transplanted suprachiasmatic nucleus controlling circadian locomotor rhythms. Nature 1996, 382:810-813.
15. Kramer A, Yang FC, Snodgrass P, et al. Regulation of daily locomotor activity and sleep by hypothalamic EGF receptor signaling. Science 2001, 294:2511-2515.
16. Schwartz WJ, Gross RA, Morton MT The suprachiasmatic nuclei contain a tetrodotoxin-resistant circadian pacemaker. Proc Natl Acad Sci U S A 1987, 84:1694-1698.
17. Moore RY, Bernstein ME Synaptogenesis in the rat suprachiasmatic nucleus demonstrated by electron microscopy and synapsin I immunoreactivity. J Neurosci 1989, 9:2151-2162.
18. Liu C, Weaver DR, Strogatz SH, Reppert SM Cellular construction of a circadian clock: Period determination in the suprachiasmatic nuclei. Cell 1997, 91:855-860.
19. Welsh DK, Logothetis DE, Meister M, Reppert SM Individual neurons dissociated from rat suprachiasmatic nucleus express independently phased circadian firing rhythms. Neuron 1995, 14:697-706.
20. Takahashi JS Molecular neurobiology and genetics of circadian rhythms in mammals. Annu Rev Neurosci 1995, 18:531-553.
21. Inouye SIT, Takahashi JS, Wollnik F, Turek FW Inhibitor of protein synthesis phase shifts a circadian pacemaker in the mammalian SCN. Am J Physiol 1988, 255:R1055-R1058.
22. Watanabe K, Katagai T, Ishida N, Yamaoka S Anisomycin induces phase shifts of circadian pacemaker in primary cultures of rat suprachiasmatic nucleus. Brain Res 1995, 684:179-184.
23. Konopka RJ, Benzer S Clock mutants of Drosophila melanogaster. Proc Natl Acad Sci U S A 1971, 68:2112-2116.
24. Dunlap JC Genetics and molecular analysis of circadian rhythms. Annu Rev Genet 1996, 30:579-601.
25. Millar AJ, Carre IA, Strayer CA, et al. Circadian clock mutants in Arabidopsis identified by luciferase imaging. Science 1995, 267:1161-1163.
26. Kondo T, Tsinoremas NF, Golden SS, et al. Circadian clock mutants of cyanobacteria. Science 1994, 266:1233-1236.
27. Bargiello TA, Jackson FR, Young MW Restoration of circadian behavioural rhythms by gene transfer in Drosophila. Nature 1984, 312:752-754.
28. Zehring WA, Wheeler DA, Reddy P, et al. P-element transformation with period locus DNA restores rhythmicity to mutant, arrhythmic Drosophila melanogaster. Cell 1984, 39:369-376.
29. Hardin PE, Hall JC, Rosbash M Feedback of the Drosophila period gene product on circadian cycling of its messenger RNA levels. Nature 1990, 343:536-540.
30. Hardin PE, Hall JC, Rosbash M Circadian oscillations in period gene mRNA levels are transcriptionally regulated. Proc Natl Acad Sci U S A 1992, 89:11711-11715.
31. Edery I, Zwiebel LJ, Dembinska ME, Rosbash M Temporal phosphorylation of the Drosophila period protein. Proc Natl Acad Sci U S A 1994, 91:2260-2264.
32. Edery I, Rutila JE, Rosbash M Phase shifting of the circadian clock by induction of the Drosophila period protein. Science 1994, 263:237-240.
33. Albrecht U, Sun ZS, Eichele G, Lee CC A differential response of two putative mammalian circadian regulators, mper1 and mper2, to light. Cell 1997, 91:1055-1064.
34. Shearman LP, Zylka MJ, Weaver DR, et al. Two period homologs: Circadian expression and photic regulation in the suprachiasmatic nuclei. Neuron 1997, 19:1261-1269.
35. Sun ZS, Albrecht U, Zhuchenko O, et al. RIGUI, a putative mammalian ortholog of the Drosophila period gene. Cell 1997, 90:1003-1011.
36. Tei H, Okamura H, Shigeyoshi Y, et al. Circadian oscillation of a mammalian homologue of the Drosophila period gene. Nature 1997, 389:512-516.
37. 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, 20:1103-1110.
38. Vitaterna MH, King DP, Chang AM, et al. Mutagenesis and mapping of a mouse gene, Clock, essential for circadian behavior. Science 1994, 264:719-725.
39. King DP, Vitaterna MH, Chang AM, et al. The mouse Clock mutation behaves as an antimorph and maps within the W19H deletion, distal of Kit. Genetics 1997, 146:1049-1060.
40. Antoch MP, Song EJ, Chang AM, et al. Functional identification of the mouse circadian Clock gene by transgenic BAC rescue. Cell 1997, 89:655-667.
41. King DP, Zhao Y, Sangoram AM, et al. Positional cloning of the mouse circadian clock gene. Cell 1997, 89:641-653.
42. Huang ZJ, Edery I, Rosbash M PAS is a dimerization domain common to Drosophila period and several transcription factors. Nature 1993, 364:259-262.
43. Gekakis N, Staknis D, Nguyen HB, et al. Role of the CLOCK protein in the mammalian circadian mechanism. Science 1998, 280:1564-1569.
44. Hao H, Allen DL, Hardin PE A circadian enhancer mediates PER-dependent mRNA cycling in Drosophila melanogaster. Molec Cell Biol 1997, 17:3687-3693.
45. Darlington TK, Wager-Smith K, Ceriani MF, et al. Closing the circadian loop: CLOCK-induced transcription of its own inhibitors per and tim. Science 1998, 280:1599-1603.
46. Shearman LP, Weaver DR Photic induction of Period gene expression is reduced in Clock mutant mice. Neuroreport 1999, 10:613-618.
47. Bunger MK, Wilsbacher LD, Moran SM, et al. Mop3 is an essential component of the master circadian pacemaker in mammals. Cell 2000, 103:1009-1017.
48. Bae K, Jin X, Maywood ES, et al. Differential functions of mPer1, mPer2, and mPer3 in the SCN circadian clock. Neuron 2001, 30:525-536.
49. Zheng B, Albrecht U, Kaasik K, et al. Nonredundant roles of the mPer1 and mPer2 genes in the mammalian circadian clock. Cell 2001, 105:683-694.
50. Kondratov RV, Chernov MV, Kondratova AA, et al. BMAL1-dependent circadian oscillation of nuclear CLOCK: Posttranslational events induced by dimerization of transcriptional activators of the mammalian clock system. Genes Dev 2003, 17:1921-1932.
51. 2-based blue-light photoreceptors in the retinohypothalamic tract as the photoactive pigments for setting the circadian clock in mammals. Proc Natl Acad Sci U S A 1998, 95:6097-6102.
52. Thresher RJ, Vitaterna MH, Miyamoto Y, et al. Role of mouse cryptochrome blue-light photoreceptor in circadian photo-responses. Science 1998, 282:1490-1494.
53. Vitaterna MH, Selby CP, Todo T, et al. Differential regulation of mammalian period genes and circadian rhythmicity by cryptochromes 1 and 2. Proc Natl Acad Sci U S A 1999, 96:12114-12119.
54. van der Horst GT, Muijtjens M, Kobayashi K, et al. Mammalian Cry1 and Cry2 are essential for maintenance of circadian rhythms. Nature 1999, 398:627-630.
55. Okamura H, Miyake S, Sumi Y, et al. Photic induction of mPer1 and mPer2 in cry-deficient mice lacking a biological clock. Science 1999, 286:2531-2534.
56. Kume K, Zylka MJ, Sriram S, et al. mCRY1 and mCRY2 are essential components of the negative limb of the circadian clock feedback loop. Cell 1999, 98:193-205.
57. Czeisler CA, Shanahan TL, Klerman EB, et al. Suppression of melatonin secretion in some blind patients by exposure to bright light. N Engl J Med 1995, 332:6-11.
58. Foster RG, Provencio I, Hudson D, et al. Circadian photoreception in the retinally degenerate mouse (rd/rd). J Comp Physiol (A) 1991, 169:39-50.
59. Freedman MS, Lucas RJ, Soni B, et al. Regulation of mammalian circadian behavior by non-rod, non-cone, ocular photoreceptors. Science 1999, 284:502-504.
60. von Schantz M, Provencio I, Foster RG Recent developments in circadian photoreception: More than meets the eye. Invest Ophthalmol Vis Sci 2000, 41:1605-1607.
61. Moore RY, Lenn NJ A retinohypothalamic projection in the rat. J Comp Neurol 1972, 146:1-14.
62. Johnson RF, Moore RY, Morin LP Loss of entrainment and anatomical plasticity after lesions of the hamster retinohypothalamic tract. Brain Res 1988, 460:297-313.
63. Provencio I, Jiang G, De Grip WJ, et al. Melanopsin: An opsin in melanophores, brain, and eye. Proc Natl Acad Sci U S A 1998, 95:340-345.
64. Berson DM, Dunn FA, Takao M Phototransduction by retinal ganglion cells that set the circadian clock. Science 2002, 295:1070-1073.
65. Hannibal J, Hindersson P, Knudsen SM, et al. The photopigment melanopsin is exclusively present in pituitary adenylate cyclase-activating polypeptide-containing retinal ganglion cells of the retinohypothalamic tract. J Neurosci 2002, 22:RC191.
66. Hattar S, Liao HW, Takao M, et al. Melanopsin-containing retinal ganglion cells: Architecture, projections, and intrinsic photo-sensitivity. Science 2002, 295:1065-1070.
67. Nelson DE, Takahashi JS Sensitivity and integration in a visual pathway for circadian entrainment in the hamster (Mesocricetus auratus). J Physiol 1991, 439:115-145.
68. Panda S, Sato TK, Castrucci AM, et al. Melanopsin (Opn4) requirement for normal light-induced circadian phase shifting. Science 2002, 298:2213-2216.
69. Ruby NF, Brennan TJ, Xie X, et al. Role of melanopsin in circadian responses to light. Science 2002, 298:2211-2213.
70. Panda S, Provencio I, Tu DC, et al. Melanopsin is required for non-image-forming photic responses in blind mice. Science 2003, 301:525-527.
71. Sehgal A, Price JL, Man B, Young MW Loss of circadian behavioral rhythms and per RNA oscillations in the Drosophila mutant timeless. Science 1994, 263:1603-1606.
72. Sehgal A, Rothenfluh-Hilfiker A, Hunter-Ensor M, et al. Rhythmic expression of timeless: A basis for promoting circadian cycles in period gene autoregulation. Science 1995, 270:808-810.
73. Hunter-Ensor M, Ousley A, Sehgal A Regulation of the Drosophila protein timeless suggests a mechanism for resetting the circadian clock by light. Cell 1996, 84:677-685.
74. Gekakis N, Saez L, Delahaye-Brown AM, et al. Isolation of time-less by PER protein interaction: Defective interaction between timeless protein and long-period mutant PERL. Science 1995, 270:811-815.
75. Saez L, Young MW Regulation of nuclear entry of the Drosophila clock proteins period and timeless. Neuron 1996, 17:911-920.
76. Allada R, White NE, So WV, et al. A mutant Drosophila homolog of mammalian Clock disrupts circadian rhythms and transcription of period and timeless. Cell 1998, 93:791-804.
77. Sangoram AM, Saez L, Antoch MP, et al. Mammalian circadian autoregulatory loop: A Timeless ortholog and mPer1 interact and negatively regulate CLOCK-BMAL1-induced transcription. Neuron 1998, 21:1101-1113.
78. Tischkau SA, Barnes JA, Lin FJ, et al. Oscillation and light induction of timeless mRNA in the mammalian circadian clock. J Neurosci 1999, 19:RC15.
79. Gotter AL, Manganaro T, Weaver DR, Kolakowski LF, et al. A time-less function for mouse timeless. Nat Neurosci 2000, 3:755-756.
80. Barnes JW, Tischkau SA, Barnes JA, et al. Requirement of mammalian Timeless for circadian rhythmicity. Science 2003, 302:439-442.
81. Ralph MR, Menaker M A mutation of the circadian system in golden hamsters. Science 1988, 241:1225-1227.
82. Shimomura K, Menaker M Light-induced phase shifts in tau mutant hamsters. J Biol Rhythms 1994, 9:97-110.
83. Refinetti R, Menaker M Evidence for separate control of estrous and circadian periodicity in the golden hamster. Behav Neural Biol 1992, 58:27-36.
84. Lowrey PL, Shimomura K, Antoch MP, et al. Positional syntenic cloning and functional characterization of the mammalian circadian mutation tau. Science 2000, 288:483-492.
85. Preitner N, Damiola F, Lopez-Molina L, et al. The orphan nuclear receptor REV-ERBalpha controls circadian transcription within the positive limb of the mammalian circadian oscillator. Cell 2002, 110:251-260.
86. Etchegaray JP, Lee C, Wade PA, Reppert SM Rhythmic histone acetylation underlies transcription in the mammalian circadian clock. Nature 2003, 421:177-182.
87. Kapfhamer D, Valladares O, Sun Y, et al. Mutations in Rab3a alter circadian period and homeostatic response to sleep loss in the mouse. Nat Genet 2002, 32:290-295.
88. Lopez-Molina L, Conquet F, Dubois-Dauphin M, Schibler U The DBP gene is expressed according to a circadian rhythm in The suprachiasmatic nucleus and influences circadian behavior. EMBO J 1997, 16:6762-6771.
89. Dudley CA, Erbel-Sieler C, Estill SJ, et al. Altered patterns of sleep and behavioral adaptability in NPAS2-deficient mice. Science 2003, 301:379-383.
90. Harmar AJ An essential role for peptidergic signalling in the control of circadian rhythms in the suprachiasmatic nuclei. J Neuroendocrinol 2003, 15:335-338.
91. Naylor E, Bergmann BM, Krauski K, et al. The circadian clock mutation alters sleep homeostasis in the mouse. J Neurosci 2000, 20:8138-8143.
92. Shaw PJ, Tononi G, Greenspan RJ, Robinson DF Stress response genes protect against lethal effects of sleep deprivation in Drosophila. Nature 2002, 417:287-291.
93. Wisor JP, O'Hara BF, Terao A, et al. A role for cryptochromes in sleep regulation. BMC Neurosci 2002, 3:20.
94. Hendricks JC, Lu S, Kume K, et al. Gender dimorphism in the role of cycle (BMAL1) in rest, rest regulation, and longevity in Drosophila melanogaster. J Biol Rhythms 2003, 18:12-25.
95. Laposky AD, Easton AE, Bradfield CA, et al. Null allele mice for the MOP-3 gene have increased sleep time and altered sleep consolidation. Sleep 2003, 26:A110.
96. Kohsaka A, Joshu C, McDearmon D, et al. Role of the transcription factor, CLOCK, in feeding and energy balance. 9th Meeting of the Society for Research on Biological Rhythms, 2004.
97. Alvarez B, Dahlitz MJ, Vignau J, Parkes JD The delayed sleep phase syndrome: Clinical and investigative findings in 14 subjects. J Neurol Neurosurg Psychiatry 1992, 55:665-670.
98. Ancoli-Israel S, Schnierow B, Kelsoe J, Fink R A pedigree of one family with delayed sleep phase syndrome. Chronobiol Int 2001, 18:831-840.
99. Archer SN, Robilliard DL, Skene DJ, et al. A length polymorphism in the circadian clock gene Per3 is linked to delayed sleep phase syndrome and extreme diurnal preference. Sleep 2003, 26:413-415.
100. Hohjoh H, Takasu M, Shishikura K, et al. Significant association of the arylalkylamine N-acetyltransferase (AA-NAT) gene with delayed sleep phase syndrome. Neurogenetics 2003, 4:151-153.
101. Iwase T, Kajimura N, Uchiyama M, et al. Mutation screening of the human Clock gene in circadian rhythm sleep disorders. Psychiatry Res 2002, 109:121-128.
102. Takahashi Y, Hohjoh H, Matsuura K Predisposing factors in delayed sleep phase syndrome. Psychiatry Clin Neurosci 2000, 54:356-358.
103. Jones CR, Campbell SS, Zone SE, et al. Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans. Nat Med 1999, 5:1062-1065.
104. Reid KJ, Chang AM, Dubocovich ML, et al. Familial advanced sleep phase syndrome. Arch Neurol 2001, 58:1089-1094.
105. Satoh K, Mishima K, Inoue Y, et al. Two pedigrees of familial advanced sleep phase syndrome in Japan. Sleep 2003, 26:416-417.
106. Toh KL, Jones CR, He Y, et al. An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. Science 2001, 291:1040-1043.
107. Katzenberg D, Young T, Finn L, et al. A CLOCK polymorphism associated with human diurnal preference. Sleep 1998, 21:568-575.
108. Robilliard DL, Archer SN, Arendt J, et al. The 3111 Clock gene polymorphism is not associated with sleep and circadian rhythmicity in phenotypically characterized human subjects. J Sleep Res 2002, 11:305-312.
109. Lingjaerde O, Bratlid T, Hansen T Insomnia during the "dark period" in northern Norway: An explorative, controlled trial with light treatment. Acta Psychiatr Scand 1985, 71:506-512.
110. Turek FW, Pénev P, Zhang Y, et al. Alterations in circadian system in advanced age. Circadian Clocks and their Adjustment 1994, Pitman Press, London.
111. Czeisler C, Cajochen C, Turek FW Melatonin in the regulation of sleep and circadian rhythms. Principles and Practice of Sleep Medicine 2000, 400-406. Saunders, Philadelphia. 3rd ed. M.H. Kryger, T. Roth, W.C. Dement (Eds.).
112. Turek FW, Scarborough K, Penev P, et al. Aging of the mammalian circadian system. Handbook of Behavioral Neurobiology, vol 2001, 292-317. Kluwer Academic/Plenum 12: Circadian Clocks, New York. J.S. Takahashi, F.W. Turek, R.Y. Moore (Eds.).