Mutation analysis of the retinoid X receptor beta, nuclear-related receptor 1, and peroxisome proliferator-activated receptor alpha genes in schizophrenia and alcohol dependence: Possible haplotype association of nuclear-related receptor 1 gene to alcohol dependence

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 114, Issue 1, 2002, Pages 15-23

  Ishiguro, Hiroki ^a,b   Okubo, Yoshiro ^b   Ohtsuki, Tsuyuka ^a   Yamakawa Kobayashi, Kimiko ^a   Arinami, Tadao ^a  

^a UNIVERSITY OF TSUKUBA   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

Alcoholism; Chromosome 2q; Retinoid cascade

Indexed keywords

CELL RECEPTOR; DNA BINDING PROTEIN; NR4A2 PROTEIN, HUMAN; NUCLEAR RECEPTOR RELATED FACTOR 1; RETINOIC ACID RECEPTOR; RETINOID X RECEPTOR; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; AGED; ALCOHOLISM; CHILD; FEMALE; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; HAPLOTYPE; HUMAN; JAPAN; MALE; MIDDLE AGED; MISSENSE MUTATION; MUTATION; SCHIZOPHRENIA; VERY ELDERLY;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALCOHOLISM; CHILD; DNA-BINDING PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; JAPAN; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 2; POLYMORPHISM, GENETIC; RECEPTORS, CYTOPLASMIC AND NUCLEAR; RECEPTORS, RETINOIC ACID; RETINOID X RECEPTORS; SCHIZOPHRENIA; TRANSCRIPTION FACTORS;

EID: 39949084461     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.1620     Document Type: Article

References (46)

1. Antonarakis SE, Blouin JL, Pulver AE, Wolyniec P, Lasseter VK, Nestadt G, Kasch L. et al. 1995. Schizophrenia susceptibility and chromosome 6p24-22. Nat Genet 11:235-236.
2. Berrard S, Faucon Biguet N, Houhou L, Lamouroux A, Mallet J. 1993. Retinoic acid induces cholinergic differentiation of cultured newborn rat sympathetic neurons. J Neurosci Res 35:382-389. (Pubitemid 23195642)
3. Berrard S, Varoqui H, Cervini R, Israel M, Mallet J, Diebler MF. 1995. Coregulation of two embedded gene products, choline acetyltransferase and the vesicular acetylcholine transporter. J Neurochem 65:939-942.
4. Berse B, Blusztajn JK. 1995. Coordinated up-regulation of choline acetyltransferase and vesicular acetylcholine transporter gene expression by the retinoic acid receptor alpha, cAMP, and leukemia inhibitory factor/ciliary neurotrophic factor signaling pathways in a murine septal cell line. J Biol Chem 270:22101-22104.
5. Berse B, Blusztajn JK. 1997. Modulation of cholinergic locus expression by glucocorticoids and retinoic acid is cell-type specific. FEBS Lett 410:175-179. (Pubitemid 27304059)
6. Burke JR, Gregor KR, Tramposch KM. 1995. Mechanism of inhibition of human nonpancreatic secreted phospholipase A2 by the anti-inflammatory agent BMS-181162. J Biol Chem 270:274-280.
7. Coon H, Holik J, Hoff M, Reimherr F, Wender P, Myles-Worsley M, Waldo M. et al. 1994. Analysis of chromosome 22 markers in nine schizophrenia pedigrees. Am J Med Genet 54:72-79. (Pubitemid 24066663)
8. Cullingford TE, Bhakoo K, Peuchen S, Dolphin CT, Patel R, Clark JB. 1998. Distribution of mRNAs encoding the peroxisome proliferator-activated receptor alpha, beta, and gamma and the retinoid X receptor alpha, beta, and gamma in rat central nervous system. J Neurochem 70:1366-1375. (Pubitemid 28136948)
9. Farooqui SM. 1994. Induction of adenylate cyclase sensitive dopamine D2-receptors in retinoic acid induced differentiated human neuroblastoma SHSY-5Y cells. Life Sci 55:1887-1893.
10. Fruchart JC, Duriez P, Staels B. 1999. Peroxisome proliferator-activated receptor-alpha activators regulate genes governing lipoprotein metabolism, vascular inflammation and atherosclerosis. Curr Opin Lipidol 10:245-257. (Pubitemid 29405915)
11. Genest P, Dumas L, Genest FB. 1976. Chromosomal translocation t(2;18)(q21;q23) in a schizophrenic individual and his daughter. Union Med Can 105:1676-1681.
12. Giguere V, Ong ES, Segui P, Evans RM. 1987. Identification of a receptor for the morphogen retinoic acid. Nature 330:624-629. (Pubitemid 18005577)
13. Goodman AB. 1996. Congenital anomalies in relatives of schizophrenic probands may indicate a retinoid pathology. Schizophr Res 19:163-170.
14. Goodman AB. 1998. Three independent lines of evidence suggest retinoids as causal to schizophrenia. Proc Natl Acad Sci USA 95:7240-7244.
15. Hardy M, Younkin D, Tang CM, Pleasure J, Shi QY, Williams M, Pleasure D. 1994. Expression of non-NMDA glutamate receptor channel genes by clonal human neurons. J Neurochem 63:482-489. (Pubitemid 24233679)
16. Hedvat CV, Irving SG. 1995. The isolation and characterization of MINOR, a novel mitogen-inducible nuclear orphan receptor. Mol Endocrinol 9:1692-1700.
17. Hill EM, Bader T, Nettesheim P, Eling TE. 1996. Retinoid-induced differentiation regulates prostaglandin H synthase and cPLA2 expression in tracheal epithelium. Am J Physiol 270:L854-L862. (Pubitemid 26182589)
18. Holden PR, Tugwood JD. 1999. Peroxisome proliferator-activated receptor alpha: role in rodent liver cancer and species differences. J Mol Endocrinol 22:1-8.
19. Ichinose H, Ohye T, Suzuki T, Sumi-Ichinose C, Nomura T, Hagino Y, Nagatsu T. 1999. Molecular cloning of the human Nurr1 gene: characterization of the human gene and cDNAs. Gene 230:233-239. (Pubitemid 29195890)
20. Ito K, Morita T. 1995. Role of retinoic acid in mouse neural crest cell development in vitro. Dev Dyn 204:211-218.
21. Kainu T, Wikstrom AC, Gustafsson JA, Pelto-Huikko M. 1994. Localization of the peroxisome proliferator-activated receptor in the brain. Neuroreport 5:2481-2485.
22. Kastner P, Mark M, Chambon P. 1995. Nonsteroid nuclear receptors: what are genetic studies telling us about their role in real life? Cell 83:859-869.
23. Kastner P, Mark M, Leid M, Gansmuller A, Chin W, Grondona JM, Decimo D, et al. 1996. Abnormal spermatogenesis in RXR beta mutant mice. Genes Dev 10:80-92. (Pubitemid 3024975)
24. Kobayashi M, Matsuoka I, Kurihara K. 1994. Cholinergic differentiation of cultured sympathetic neurons induced by retinoic acid: induction of choline acetyltransferase-mRNA and suppression of tyrosine hydroxylase- mRNA levels. FEBS Lett 337:259-264. (Pubitemid 24034782)
25. Krezel W, Ghyselinck N, Samad TA, Dupe V, Kastner P, Borrelli E, Chambon P. 1998. Impaired locomotion and dopamine signaling in retinoid receptor mutant mice. Science 279:863-867. (Pubitemid 28106280)
26. Law SW, Conneely OM, DeMayo FJ, O'Malley BW. 1992. Identification of a new brain-specific transcription factor, NURR1. Mol Endocrinol 6:2129-2135.
27. Lotan R. 1996. Retinoids and their receptors in modulation of differentiation, development, and prevention of head and neck cancers. Anticancer Res 16:2415-2419. (Pubitemid 26325424)
28. Mangelsdorf DJ, Ong ES, Dyck JA, Evans RM. 1990. Nuclear receptor that identifies a novel retinoic acid response pathway. Nature 345:224-229. (Pubitemid 20163052)
29. Mena MA, Casarejos MJ, Bonin A, Ramos JA, Garcia Yebenes J. 1995. Effects of dibutyryl cyclic AMP and retinoic acid on the differentiation of dopamine neurons: prevention of cell death by dibutyryl cyclic AMP. J Neurochem 65:2612-2620.
30. Moises HW, Yang L, Kristbjarnarson H, Wiese C, Byerley W, Macciardi F, Arolt V, et al. 1995a. An international two-stage genome-wide search for schizophrenia susceptibility genes. Nat Genet 11:321-324.
31. Moises HW, Yang L, Li T, Havsteen B, Fimmers R, Baur MP, Liu X, et al. 1995b. Potential linkage disequilibrium between schizophrenia and locus D22S278 on the long arm of chromosome 22. Am J Med Genet 60:465-467.
32. Pedersen WA, Berse B, Schuler U, Wainer BH, Blusztajn JK. 1995. All-trans- and 9-cis-retinoic acid enhance the cholinergic properties of a murine septal cell line: evidence that the effects are mediated by activation of retinoic acid receptor-alpha. J Neurochem 65:50-58.
33. Petkovich M, Brand NJ, Krust A, Chambon P. 1987. A human retinoic acid receptor which belongs to the family of nuclear receptors. Nature 330:444-450. (Pubitemid 18006425)
34. Petroni A, Blasevich M, Papini N, La Spada P, Galli C. 1996. Changes in arachidonic acid levels and formation and in lipid synthesis in the human neuroblastoma SK-N-BE during retinoic acid-induced differentiation. J Neurochem 67:549-556. (Pubitemid 26255648)
35. Pineau T, Hudgins WR, Liu L, Chen LC, Sher T, Gonzalez FJ, Samid D. 1996. Activation of a human peroxisome proliferator-activated receptor by the antitumor agent phenylacetate and its analogs. Biochem Pharmacol 52:659-667. (Pubitemid 126689788)
36. Ray WJ, Gottlieb DI. 1993. Expression of ionotropic glutamate receptor genes by P19 embryonal carcinoma cells. Biochem Biophys Res Comm 197:1475-1482.
37. Ruiz i Altaba A, Jessell TM. 1991. Retinoic acid modifies the pattern of cell differentiation in the central nervous system of neurula stage Xenopus embryos. Development 112:945-958.
38. Sakurada K, Ohshima-Sakurada M, Palmer TD, Gage FH. 1999. Nurr1, an orphan nuclear receptor, is a transcriptional activator of endogenous tyrosine hydroxylase in neural progenitor cells derived from the adult brain. Development 126:4017-4026. (Pubitemid 29481559)
39. Samad TA, Krezel W, Chambon P, Borrelli E. 1997. Regulation of dopaminergic pathways by retinoids: activation of the D2 receptor promoter by members of the retinoic acid receptor-retinoid X receptor family. Proc Natl Acad Sci USA 94:14349-14354. (Pubitemid 28041376)
40. Schizophrenia Collaborative Linkage Group for Chromosome 22. 1998. A transmission disequilibrium and linkage analysis of D22S278 marker alleles in 574 families: further support for a susceptibility locus for schizophrenia at 22q12. Schizophr Res 32:115-121.
41. Straub RE, MacLean CJ, O'Neill FA, Burke J, Murphy B, Duke F, Shinkwin R. et al. 1995. A potential vulnerability locus for schizophrenia on chromosome 6p24-22: evidence for genetic heterogeneity. Nat Genet 11:287-293.
42. Thummel CS. 1995. From embryogenesis to metamorphosis: the regulation and function of Drosophila nuclear receptor superfamily members. Cell 83:871-877.
43. Vallada HP, Kunugi H. 1996. An overview of schizophrenia genetic research presented at the 1995 World Congress on Psychiatric Genetics, Cardiff. Schizophr Res 19:87-92. (Pubitemid 26180476)
44. Wright P, Donaldson PT, Underhill JA, Choudhuri K, Doherty DG, Murray RM. 1996. Genetic association of the HLA DRB1 gene locus on chromosome 6p21.3 with schizophrenia. Am J Psychiatry 153:1530-1533. (Pubitemid 26406161)
45. Zetterstrom RH, Solomin L, Mitsiadis T, Olson L, Perlmann T. 1996. Retinoid X receptor heterodimerization and developmental expression distinguish the orphan nuclear receptors NGFI-B, Nurr1, and Nor1. Mol Endocrinol 10:1656-1666. (Pubitemid 26408753)
46. Zetterstrom RH, Solomin L, Jansson L, Hoffer BJ, Olson L, Perlmann T. 1997. Dopamine neuron agenesis in Nurr1-deficient mice. Science 276:248-250. (Pubitemid 27172681)