Genetic variants and abnormal processing of pre-miR-182, a circadian clock modulator, in major depression patients with late insomnia

Human Molecular Genetics

Volumn 19, Issue 20, 2010, Pages 4017-4025

  Saus, Ester ^a   Soria, Virginia ^b   Escaramís, Geòrgia ^a   Vivarelli, Francesca ^a   Crespo, José M ^b,c   Kagerbauer, Birgit ^a   Menchòn, José Manuel ^b,c   Urretavizcaya, Mikel ^b,c   Gratacòs, Mònica ^a   Estivill, Xavier ^a,d  

^a CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^b HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^c UNIVERSITY OF BARCELONA   (Spain)

^d UNIVERSITAT POMPEU FABRA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DELTA SLEEP INDUCING PEPTIDE; LUCIFERASE; MICRORNA;

3' UNTRANSLATED REGION; ADULT; AGED; ALLELE; ARTICLE; CHRONOBIOLOGY; CIRCADIAN RHYTHM; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; DNA POLYMORPHISM; DOWN REGULATION; FEMALE; GENE CONTROL; GENE FUNCTION; GENE MUTATION; GENE OVEREXPRESSION; GENE SEQUENCE; GENETIC TRANSFECTION; GENETIC VARIABILITY; HUMAN; INSOMNIA; MAJOR CLINICAL STUDY; MAJOR DEPRESSION; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PLASMID; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCREENING; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE;

CIRCADIAN CLOCKS; CIRCADIAN RHYTHM; CLOCK PROTEINS; DEPRESSIVE DISORDER, MAJOR; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENETIC VECTORS; HUMANS; MICRORNAS; PLASMIDS; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; RNA PRECURSORS; SEQUENCE ALIGNMENT; SLEEP INITIATION AND MAINTENANCE DISORDERS; TRANSFECTION;

MUS;

EID: 77957734498     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq316     Document Type: Article

References (51)

1. Reppert, S.M. and Weaver, D.R. (2001) Molecular analysis of mammalian circadian rhythms. Annu. Rev. Physiol., 63, 647-676.
2. Merrow, M., Spoelstra, K. and Roenneberg, T. (2005) The circadian cycle: daily rhythms from behaviour to genes. EMBO Rep., 6, 930-935.
3. Bushati, N. and Cohen, S.M. (2007) microRNA functions. Annu. Rev. Cell. Dev. Biol., 23, 175-205.
4. Pegoraro, M. and Tauber, E. (2008) The role of microRNAs (miRNA) in circadian rhythmicity. J. Genet., 87, 505-511.
5. Cheng, H.Y., Papp, J.W., Varlamova, O., Dziema, H., Russell, B., Curfman, J.P., Nakazawa, T., Shimizu, K., Okamura, H., Impey, S. et al. (2007) microRNA modulation of circadian-clock period and entrainment. Neuron, 54, 813-829.
6. Xu, S., Witmer, P.D., Lumayag, S., Kovacs, B. and Valle, D. (2007) MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA cluster. J. Biol. Chem., 282, 25053-25066.
7. Mendlewicz, J. (2009) Disruption of the circadian timing systems: molecular mechanisms in mood disorders. CNS Drugs, 23(Suppl. 2), 15-26.
8. McClung, C.A. (2007) Circadian genes, rhythms and the biology of mood disorders. Pharmacol. Ther., 114, 222-232.
9. Johansson, C., Willeit, M., Smedh, C., Ekholm, J., Paunio, T., Kieseppa, T., Lichtermann, D., Praschak-Rieder, N., Neumeister, A., Nilsson, L.G. et al. (2003) Circadian clock-related polymorphisms in seasonal affective disorder and their relevance to diurnal preference. Neuropsychopharmacology, 28, 734-739.
10. Partonen, T., Treutlein, J., Alpman, A., Frank, J., Johansson, C., Depner, M., Aron, L., Rietschel, M., Wellek, S., Soronen, P. et al. (2007) Three circadian clock genes Per2, Arntl, and Npas2 contribute to winter depression. Ann. Med., 39, 229-238.
11. Soria, V., Martinez-Amoros, E., Escaramis, G., Valero, J., Perez-Egea, R., Garcia, C., Gutierrez-Zotes, A., Puigdemont, D., Bayes, M., Crespo, J.M. et al. (2010) Differential association of circadian genes with mood disorders: CRY1 and NPAS2 are associated with unipolar major depression and CLOCK and VIP with bipolar disorder. Neuropsychopharmacology, 35, 1279-1289.
12. Mansour, H.A., Wood, J., Logue, T., Chowdari, K.V., Dayal, M., Kupfer, D.J., Monk, T.H., Devlin, B. and Nimgaonkar, V.L. (2006) Association study of eight circadian genes with bipolar I disorder, schizoaffective disorder and schizophrenia. Genes Brain Behav., 5, 150-157.
13. Shi, J., Wittke-Thompson, J.K., Badner, J.A., Hattori, E., Potash, J.B., Willour, V.L., McMahon, F.J., Gershon, E.S. and Liu, C. (2008) Clock genes may influence bipolar disorder susceptibility and dysfunctional circadian rhythm. Am. J. Med. Genet. B Neuropsychiatr. Genet., 147B, 1047-1055.
14. Artioli, P., Lorenzi, C., Pirovano, A., Serretti, A., Benedetti, F., Catalano, M. and Smeraldi, E. (2007) How do genes exert their role? Period 3 gene variants and possible influences on mood disorder phenotypes. Eur. Neuropsychopharmacol., 17, 587-594.
15. Serretti, A., Benedetti, F., Mandelli, L., Lorenzi, C., Pirovano, A., Colombo, C. and Smeraldi, E. (2003) Genetic dissection of psychopathological symptoms: insomnia in mood disorders and CLOCK gene polymorphism. Am. J. Med. Genet. B Neuropsychiatr. Genet., 121B, 35-38.
16. Benedetti, F., Dallaspezia, S., Fulgosi, M.C., Lorenzi, C., Serretti, A., Barbini, B., Colombo, C. and Smeraldi, E. (2007) 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., 144B, 631-635.
17. Serretti, A., Cusin, C., Benedetti, F., Mandelli, L., Pirovano, A., Zanardi, R., Colombo, C. and Smeraldi, E. (2005) Insomnia improvement during antidepressant treatment and CLOCK gene polymorphism. Am. J. Med. Genet. B Neuropsychiatr. Genet., 137B, 36-39.
18. Ebisawa, T., Uchiyama, M., Kajimura, N., Mishima, K., Kamei, Y., Katoh, M., Watanabe, T., Sekimoto, M., Shibui, K., Kim, K. et al. (2001) Association of structural polymorphisms in the human period3 gene with delayed sleep phase syndrome. EMBO Rep., 2, 342-346.
19. Pollard, B.J. and Pomfrett, C.J. (2001) Delta sleep-inducing peptide. Eur. J. Anaesthesiol., 18, 419-422.
20. Sethupathy, P. and Collins, F.S. (2008) MicroRNA target site polymorphisms and human disease. Trends Genet., 24, 489-497.
21. Mishra, P.J. and Bertino, J.R. (2009) MicroRNA polymorphisms: the future of pharmacogenomics, molecular epidemiology and individualized medicine. Pharmacogenomics, 10, 399-416.
22. Borbely, A.A. (1982) A two process model of sleep regulation. Hum. Neurobiol., 1, 195-204.
23. Franken, P. and Dijk, D.J. (2009) Circadian clock genes and sleep homeostasis. Eur. J. Neurosci., 29, 1820-1829.
24. Cirelli, C., Gutierrez, C.M. and Tononi, G. (2004) Extensive and divergent effects of sleep and wakefulness on brain gene expression. Neuron, 41, 35-43.
25. Guzman-Marin, R., Ying, Z., Suntsova, N., Methippara, M., Bashir, T., Szymusiak, R., Gomez-Pinilla, F. and McGinty, D. (2006) Suppression of hippocampal plasticity-related gene expression by sleep deprivation in rats. J. Physiol., 575, 807-819.
26. Taishi, P., Sanchez, C., Wang, Y., Fang, J., Harding, J.W. and Krueger, J.M. (2001) Conditions that affect sleep alter the expression of molecules associated with synaptic plasticity. Am. J. Physiol. Regul. Integr. Comp. Physiol., 281, R839-R845.
27. Terao, A., Wisor, J.P., Peyron, C., Apte-Deshpande, A., Wurts, S.W., Edgar, D.M. and Kilduff, T.S. (2006) Gene expression in the rat brain during sleep deprivation and recovery sleep: an Affymetrix GeneChip study. Neuroscience, 137, 593-605.
28. Davis, C.J., Bohnet, S.G., Meyerson, J.M. and Krueger, J.M. (2007) Sleep loss changes microRNA levels in the brain: a possible mechanism for state-dependent translational regulation. Neurosci. Lett., 422, 68-73.
29. Lamont, E.W., James, F.O., Boivin, D.B. and Cermakian, N. (2007) From circadian clock gene expression to pathologies. Sleep Med., 8, 547-556.
30. Naylor, E., Bergmann, B.M., Krauski, K., Zee, P.C., Takahashi, J.S., Vitaterna, M.H. and Turek, F.W. (2000) The circadian clock mutation alters sleep homeostasis in the mouse. J. Neurosci., 20, 8138-8143.
31. Katzenberg, D., Young, T., Finn, L., Lin, L., King, D.P., Takahashi, J.S. and Mignot, E. (1998) A CLOCK polymorphism associated with human diurnal preference. Sleep, 21, 569-576.
32. Mishima, K., Tozawa, T., Satoh, K., Saitoh, H. and Mishima, Y. (2005) The 3111T/C polymorphism of hClock is associated with evening preference and delayed sleep timing in a Japanese population sample. Am. J. Med. Genet. B Neuropsychiatr. Genet., 133B, 101-104.
33. Takimoto, M., Hamada, A., Tomoda, A., Ohdo, S., Ohmura, T., Sakato, H., Kawatani, J., Jodoi, T., Nakagawa, H., Terazono, H. et al. (2005) Daily expression of clock genes in whole blood cells in healthy subjects and a patient with circadian rhythm sleep disorder. Am. J. Physiol. Regul. Integr. Comp. Physiol., 289, R1273-R1279.
34. Pirovano, A., Lorenzi, C., Serretti, A., Ploia, C., Landoni, S., Catalano, M. and Smeraldi, E. (2005) Two new rare variants in the circadian 'clock' gene may influence sleep pattern. Genet. Med., 7, 455-457.
35. Yang, M.Y., Chang, J.G., Lin, P.M., Tang, K.P., Chen, Y.H., Lin, H.Y., Liu, T.C., Hsiao, H.H., Liu, Y.C. and Lin, S.F. (2006) Downregulation of circadian clock genes in chronic myeloid leukemia: alternative methylation pattern of hPER3. Cancer Sci., 97, 1298-1307.
36. Taniguchi, H., Fernandez, A.F., Setien, F., Ropero, S., Ballestar, E., Villanueva, A., Yamamoto, H., Imai, K., Shinomura, Y. and Esteller, M. (2009) Epigenetic inactivation of the circadian clock gene BMAL1 in hematologic malignancies. Cancer Res., 69, 8447-8454.
37. Hoffman, A.E., Yi, C.H., Zheng, T., Stevens, R.G., Leaderer, D., Zhang, Y., Holford, T.R., Hansen, J., Paulson, J. and Zhu, Y. (2010) CLOCK in breast tumorigenesis: genetic, epigenetic, and transcriptional profiling analyses. Cancer Res., 70, 1459-1468.
38. Ji, Y., Qin, Y., Shu, H. and Li, X. (2010) Methylation analyses on promoters of mPer1, mPer2 and mCry1 during perinatal development. Biochem. Biophys. Res. Commun., 391, 1742-1747.
39. Hirota, T. and Kay, S.A. (2009) High-throughput screening and chemical biology: new approaches for understanding circadian clock mechanisms. Chem. Biol., 16, 921-927.
40. Schork, N.J., Murray, S.S., Frazer, K.A. and Topol, E.J. (2009) Common vs. rare allele hypotheses for complex diseases. Curr. Opin. Genet. Dev., 19, 212-219.
41. First, M.B., Spitzer, R.L., Gibbon, M. and Williams, J.B.W. (1997) Structured Clinical Interview for DSM-IV Axis I Disorders (SCID), American Psychiatric Press, Washington, DC.
42. American Psychiatric Association (2000) Diagnostic and Statistical Manual of Mental Disorders (DSM-IV), Text Revision., American Psychiatric Press, Washington, DC.
43. Hamilton, M. (1960) A rating scale for depression. J. Neurol. Neurosurg. Psychiatry, 23, 56-62.
44. Goikolea, J.M., Miralles, G., Bulbena Cabre, A., Vieta, E. and Bulbena, A. (2003) [Spanish adaptation of the Seasonal Pattern Assessment Questionnaire (SPAQ) in the adult and children-adolescent versions]. Acta. Esp. Psiquiatr., 31, 192-198.
45. Adan, A. and Almirall, H. (1990) Adaptation and standardization of a Spanish version of the morningness-eveningness questionnaire: individual differences. Pers. Individ. Dif., 11, 1123-1130.
46. Griffiths-Jones, S., Saini, H.K., van Dongen, S. and Enright, A.J. (2008) miRBase: tools for microRNA genomics. Nucleic Acids Res., 36, D154-D158.
47. Gauderman, W.J. (2002) Sample size requirements for matched case-control studies of gene-environment interaction. Stat. Med., 21, 35-50.
48. Gauderman, W.J. and Morrison, J.M. (2006) QUANTO 1.1: a computer program for power and sample size calculations for genetic-epidemiology studies. http://hydra.usc.edu/gxe [program].
49. Akaike, H. (1973) Information theory as an extension of the maximum likelihood principle. In: Petrov, B.N. and Csaki, F. (eds), Proc. 2nd Int. Symp. Info. Theory. Akademiai Kiado, Budapest, Hungary, pp. 267-281.
50. Gonzalez, J.R., Armengol, L., Sole, X., Guino, E., Mercader, J.M., Estivill, X. and Moreno, V. (2007) SNPassoc: an R package to perform whole genome association studies. Bioinformatics, 23, 644-645.
51. Steibel, J.P., Poletto, R., Coussens, P.M. and Rosa, G.J. (2009) A powerful and flexible linear mixed model framework for the analysis of relative quantification RT-PCR data. Genomics, 94, 146-152.