Initial association of NR2E1 with bipolar disorder and identification of candidate mutations in bipolar disorder, schizophrenia, and aggression through resequencing

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 147, Issue 6, 2008, Pages 880-889

  Kumar, Ravinesh A ^a,b   McGhee, Kevin A ^c   Leach, Stephen ^d   Bonaguro, Russell ^a   Maclean, Alan ^c   Aguirre Hernandez, Rosalia ^b   Abrahams, Brett S ^a   Coccaro, Emil F ^e   Hodgins, Sheilagh ^f   Turecki, Gustavo ^g   Condon, Anne ^b   Muir, Walter J ^c   Brooks Wilson, Angela R ^b,d   Blackwood, Douglas H ^c   Simpson, Elizabeth M ^a,b  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

^d BRITISH COLUMBIA CANCER AGENCY   (Canada)

^e UNIVERSITY OF CHICAGO   (United States)

^f KING'S COLLEGE LONDON   (United Kingdom)

^g MCGILL UNIVERSITY   (Canada)

Author keywords

"Fierce" mice; Brain; Mental illness; Nuclear receptor; Polymorphisms

Indexed keywords

CELL NUCLEUS RECEPTOR; NUCLEAR RECEPTOR 2E1 PROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ADULT; AGED; AGGRESSION; ARTICLE; BINDING SITE; BIPOLAR DISORDER; BIPOLAR I DISORDER; BIPOLAR II DISORDER; COGNITIVE DEFECT; CONTROLLED STUDY; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC MARKER; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NERVOUS SYSTEM DEVELOPMENT; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; SCHIZOPHRENIA; SPLICEOSOME;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AGGRESSION; BIPOLAR DISORDER; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, CYTOPLASMIC AND NUCLEAR; SCHIZOPHRENIA;

MUS;

EID: 51449099369     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30696     Document Type: Article

References (60)

1. Abrahams BS, Mak GM, Berry ML, Palmquist DL, Saionz JR, Tay A, Tan YH, Brenner S, *Simpson EM, *Venkatesh B. 2002. Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1 /fierce loci. Genomics 80(1):45-53 (*authors contributed equally).
2. Abrahams BS, Kwok MC, Trinh E, Budaghzadeh S, Hossain SM, Simpson EM. 2005. Pathological aggression in "fierce" mice corrected by human nuclear receptor 2E1. J Neurosci 25(27):6263-6270.
3. Akhmedov NB, Piriev NI, Chang B, Rapoport AL, Hawes NL, Nishina PM, Nusinowitz S, Heckenlively JR, Roderick TH, Kozak CA, et al. 2000. A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. Proc Natl Acad Sci USA 97(10): 5551-5556.
4. American Psychiatric Association. 2000. Diagnostic and statistical manual of mental disorders, 4th edition. Washington: American Psychiatric Association.
5. Arinami T, Gao M, Hamaguchi H, Toru M. 1997. Afunctional polymorphism in the promoter region of the dopamine D2 receptor gene is associated with schizophrenia. Hum Mol Genet 6(4):577-582.
6. Barrett JC, Fry B, Maller J, Daly MJ. 2005. Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics 21(2):263-265.
7. Bellivier F, Golmard JL, Henry C, Leboyer M, Schurhoff F. 2001. Admixture analysis of age at onset in bipolar I affective disorder. Arch Gen Psychiatry 58(5):510-512.
8. Berlin F, Hunt W, Malin H, Dyer A, Lahne G, Dean S. 1991. A five-year plus follow-up survey of criminal recidivism within a treated cohort of 406 pedophiles, 111 exhibitionists and 109 sexual aggressive: Issues and outcomes. Am J Forensic Psychol 12:5-28.
9. Buervenich S, Carmine A, Arvidsson M, Xiang F, Zhang Z, Sydow O, Jonsson EG, Sedvall GC, Leonard S, Ross RG, et al. 2000. NURR1 mutations in cases of schizophrenia and manic-depressive disorder. Am J Med Genet 96(6):808-813.
10. Cao Q, Martinez M, Zhang J, Sanders AR, Badner JA, Cravchik A, Markey CJ, Beshah E, Guroff JJ, Maxwell ME, et al. 1997. Suggestive evidence for a schizophrenia susceptibility locus on chromosome 6q and a confirmation in an independent series of pedigrees. Genomics 43(1):1-8.
11. Caspi A, McClay J, Moffitt TE, Mill J, Martin J, Craig IW, Taylor A, Poulton R. 2002. Role of genotype in the cycle of violence in maltreated children. Science 297(5582):851-854.
12. Chen YH, Tsai MT, Shaw CK, Chen CH. 2001. Mutation analysis of the human NR4A2 gene, an essential gene for midbrain dopaminergic neurogenesis, in schizophrenic patients. Am J Med Genet 105(8):753-757.
13. Christie BR, Li AM, Redila VA, Booth H, Wong BK, Eadie BD, Ernst C, Simpson EM. 2006. Deletion of the nuclear receptor Nr2e1 impairs synaptic plasticity and dendritic structure in the mouse dentate gyrus. Neuroscience 137(3):1031-1037.
14. de Bakker PI, Yelensky R, Pe'er I, Gabriel SB, Daly MJ, Altshuler D. 2005. Efficiency and power in genetic association studies. Nat Genet 37(11):1217-1223.
15. Dudbridge F. 2003. Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol 25(2):115-121.
16. Dumais A, Lesage AD, Lalovic A, Seguin M, Tousignant M, Chawky N, Turecki G. 2005. Is violent method of suicide a behavioral marker of lifetime aggression? Am J Psychiatry 162(7):1375-1378.
17. Faraone SV, Lasky-Su J, Glatt SJ, Van Eerdewegh P, Tsuang MT. 2006. Early onset bipolar disorder: Possible linkage to chromosome 9q34. Bipolar Disord 8(2):144-151.
18. Filley CM, Price BH, Nell V, Antoinette T, Morgan AS, Bresnahan JF, Pincus JH, Gelbort MM, Weissberg M, Kelly JP. 2001. Toward an understanding of violence: Neurobehavioral aspects of unwarranted physical aggression: Aspen Neurobehavioral Conference consensus statement. Neuropsychiatry Neuropsychol Behav Neurol 14(1):1-14.
19. Goveas JS, Csernansky JG, Coccaro EF. 2004. Platelet serotonin content correlates inversely with life history of aggression in personality-disordered subjects. Psychiatry Res 126(1):23-32.
20. Grigoroiu-Serbanescu M, Martinez M, Nothen MM, Grinberg M, Sima D, Propping P, Marinescu E, Hrestic M. 2001. Different familial transmission patterns in bipolar I disorder with onset before and after age 25. Am J Med Genet 105(8):765-773.
21. Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, et al. 2000. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet 24(2):127-131.
22. Hao Y, Creson T, Zhang L, Li P, Du F, Yuan P, Gould TD, Manji HK, Chen G. 2004. Mood stabilizer valproate promotes ERK pathway-dependent cortical neuronal growth and neurogenesis. J Neurosci 24(29):6590-6599.
23. Jablensky A, Sartorius N, Ernberg G, Anker M, Korten A, Cooper JE, Day R, Bertelsen A. 1992. Schizophrenia: Manifestations, incidence and course in different cultures. A World Health Organization ten-country study. Psychol Med Monogr Suppl 20:1-97.
24. Kim JS, Chang MY, Yu IT, Kim JH, Lee SH, Lee YS, Son H. 2004. Lithium selectively increases neuronal differentiation of hippocampal neural progenitor cells both in vitro and in vivo. J Neurochem 89(2):324-336.
25. Kohn Y, Lerer B. 2005. Excitement and confusion on chromosome 6q: The challenges of neuropsychiatrie genetics in microcosm. Mol Psychiatry 10(12):1062-1073.
26. Kumar S, Hedges SB. 1998. A molecular timescale for vertebrate evolution. Nature 392(6679):917-920.
27. Kumar RA, Leach S, Bonaguro R, Chen J, Yokom DW, Abrahams BS, Seaver L, Schwartz CE, Dobyns W, Brooks-Wilson A, et al. 2007. Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations. Genes Brain Behav 6:503-516 [Epub ahead of print Oct 20 2006].
28. Land PW, Monaghan AP. 2003. Expression of the transcription factor, tailless, is required for formation of superficial cortical layers. Cereb Cortex 13(9):921-931.
29. Levinson DF, Holmans P, Straub RE, Owen MJ, Wildenauer DB, Gejman PV, Pulver AE, Laurent C, Kendler KS, Walsh D, et al. 2000. Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: Schizophrenia linkage collaborative group III. Am J Hum Genet 67(3):652-663.
30. Lin PI, McInnis MG, Potash JB, Willour V, MacKinnon DF, DePaulo JR, Zandi PP. 2006. Clinical correlates and familial aggregation of age at onset in bipolar disorder. Am J Psychiatry 163(2):240-246.
31. Maier W, Zobel A, Wagner M. 2006. Schizophrenia and bipolar disorder: Differences and overlaps. Curr Opin Psychiatry 19(2):165-170.
32. Mamdani F, Sequeira A, Aida M, Grof P, Rouleau G, Turecki G. 2007. No association between the PREP gene and lithium responsive bipolar disorder. BMC Psychiatry 26:7-9.
33. Martinez M, Goldin LR, Cao Q, Zhang J, Sanders AR, Nancarrow DJ, Taylor JM, Levinson DF, Kirby A, Crowe RR, et al. 1999. Follow-up study on a susceptibility locus for schizophrenia on chromosome 6q. Am J Med Genet 88(4):337-343.
34. McQueen MB, Devlin B, Faraone SV, Nimgaonkar VL, Sklar P, Smoller JW, Abou Jamra R, Albus M, Bacanu SA, Baron M, et al. 2005. Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility Loci on chromosomes 6q and 8q. Am J Hum Genet 77(4):582-595.
35. Mignone F, Grille G, Licciulli F, Iacono M, Liuni S, Kersey PJ, Duarte J, Saccone C, Pesole G. 2005. UTRdb and UTRsite: A collection of sequences and regulatory motifs of the untranslated regions of eukaryotic mRNAs. Nucleic Acids Res 33(Database issue):D141-D146.
36. Monaghan AP, Bock D, Gass P, Schwager A, Wolfer DP, Lipp HP, Schutz G. 1997. Defective limbic system in mice lacking the tailless gene. Nature 390(6659):515-517.
37. Ogden CA, Rich ME, Schork NJ, Paulus MP, Geyer MA, Lohr JB, Kuczenski R, Niculescu AB. 2004. Candidate genes, pathways and mechanisms for bipolar (manic-depressive) and related disorders: An expanded convergent functional genomics approach. Mol Psychiatry 9(11):1007-1029.
38. Okuyama Y, Ishiguro H, Toru M, Arinami T. 1999. A genetic polymorphism in the promoter region of DRD4 associated with expression and schizophrenia. Biochem Biophys Res Commun 258(2):292-295.
39. Quandt K, Frech K, Karas H, Wingender E, Werner T. 1995. MatInd and MatInspector: New fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucleic Acids Res 23(23):4878-4884.
40. Rapoport JL, Addington AM, Frangou S, Psych MR. 2005. The neurodevelopmental model of schizophrenia: Update 2005. Mol Psychiatry 10(5):434-449.
41. Ross CA, Margolis RL, Reading SA, Pletnikov M, Coyle JT. 2006. Neurobiology of Schizophrenia. Neuron 52(1):139-153.
42. Roy K, Thiels E, Monaghan AP. 2002. Loss of the tailless gene affects forebrain development and emotional behavior. Physiol Behav 77(4-5):595-600.
43. Roy K, Kuznicki K, Wu Q, Sun Z, Bock D, Schutz G, Vranich N, Monaghan AP. 2004. The Tlx gene regulates the timing of neurogenesis in the cortex. J Neurosci 24(38):8333-8345.
44. Schuback DE, Mulligan EL, Sims KB, Tivol EA, Greenberg BD, Chang SF, Yang SL, Mau YC, Shen CY, Ho MS, et al. 1999. Screen for MAOA mutations in target human groups. Am J Med Genet 88(1):25-28.
45. Sham PC, Curtis D. 1995. An extended transmission/disequilibrium test (TDT) for multi-allele marker loci. Ann Hum Genet 59(Pt 3):323-336.
46. Shi Y, Chichung Lie D, Taupin P, Nakashima K, Ray J, Yu RT, Gage FH, Evans RM. 2004. Expression and function of orphan nuclear receptor TLX in adult neural stem cells. Nature 427(6969):78-83.
47. Sklar P. 2002. Linkage analysis in psychiatric disorders: The emerging picture. Annu Rev Genomics Hum Genet 3:371-413.
48. Stenman J, Yu RT, Evans RM, Campbell K. 2003. Tlx and Pax6 co-operate genetically to establish the pallio-subpallial boundary in the embryonic mouse telencephalon. Development 130(6):1113-1122.
49. Stober G, Syagailo YV, Okladnova O, Jungkunz G, Knapp M, Beckmann H, Lesch KP. 1999. Functional PAX-6 gene-linked polymorphic region: Potential association with paranoid schizophrenia. Biol Psychiatry 45(12):1585-1591.
50. Strakowski SM, Delbello MP, Adler CM. 2005. The functional neuro-anatomy of bipolar disorder: A review of neuroimaging findings. Mol Psychiatry 10(1):105-116.
51. Thomson PA, Wray NR, Millar JK, Evans KL, Hellard SL, Condie A, Muir WJ, Blackwood DH, Porteous DJ. 2005a. Association between the TRAX/DISC locus and both bipolar disorder and schizophrenia in the Scottish population. Mol Psychiatry 10(7):657-668, 616.
52. Thomson PA, Wray NR, Thomson AM, Dunbar DR, Grassie MA, Condie A, Walker MT, Smith DJ, Pulford DJ, Muir W, et al. 2005b. Sex-specific association between bipolar affective disorder in women and GPR50, an X-linked orphan G protein-coupled receptor. Mol Psychiatry 10(5):470-478.
53. The International HapMap Consortium. 2005. A haplotype map of the human genome. Nature 437(7063):1299-1320.
54. Tso JY, Sun XH, Kao TH, Reece KS, Wu R. 1985. Isolation and characterization of rat and human glyceraldehyde-3-phosphate dehydrogenase cDNAs: Genomic complexity and molecular evolution of the gene. Nucelic acid Res 13:2485-2502.
55. Tsuang MT, Faraone SV. 1990. The genetics of mood disorders. Baltimore: John Hopkins Press.
56. Visscher PM, Yazdi MH, Jackson AD, Schalling M, Lindblad K, Yuan QP, Porteous D, Muir WJ, Blackwood DH. 2001. Genetic survival analysis of age-at-onset of bipolar disorder: Evidence for anticipation or cohort effect in families. Psychiatr Genet 11(3):129-137.
57. Westberg L, Melke J, Landen M, Nilsson S, Baghaei F, Rosmond R, Janssen M, Holm G, Bjorntorp P, Eriksson E. 2003. Association between a dinucleotide repeat polymorphism of the estrogen receptor alpha gene and personality traits in women. Mol Psychiatry 8(1):118-122.
58. Xie X, Lu J, Kulbokas EJ, Golub TR, Mootha V, Lindblad-Toh K, Lander ES, Kellis M. 2005. Systematic discovery of regulatory motifs in human promoters and 3′ UT Rs by comparison of several mammals. Nature 434(7031):338-345.
59. Young KA, Berry ML, Mahaffey CL, Saionz JR, Hawes NL, Chang B, Zheng QY, Smith RS, Bronson RT, Nelson RJ, et al. 2002. Fierce: A new mouse deletion of Nr2e1; violent behaviour and ocular abnormalities are background-dependent. Behav Brain Res 132(2):145-158.
60. Zhang CL, Zou Y, Yu RT, Gage FH, Evans RM. 2006. Nuclear receptor TLX prevents retinal dystrophy and recruits the corepressor atrophin1. Genes Dev 20(10):1308-1320.