Human genome and the perspectives for schizophrenia;O genoma humano e as perspectivas para o estudo da esquizofrenia

Revista de Psiquiatria Clinica

Volumn 31, Issue 1, 2004, Pages 9-18

  Benquioque Ojopi, Elida P ^a   Passos Gregorio, Sheila ^a   Moreira Guimarães, Pedro Edson ^a   Fridman, Cintia ^a   Dias Neto, Emmanuel ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Genome; Neurogenesis; Polymorphisms; Schizophrenia; Transcriptome

Indexed keywords

ALTERNATIVE RNA SPLICING; CELL KINETICS; GENE EXPRESSION; GENE FUNCTION; GENE MAPPING; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; HUMAN GENOME; MEDICAL RESEARCH; MOLECULAR GENETICS; PHARMACOGENOMICS; REVIEW; SCHIZOPHRENIA; SEQUENCE ANALYSIS;

EID: 2342441696     PISSN: 01016083     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (56)

1. BARON, M. - Genetics of schizophrenia and the new millennium: progress and pitfalls. Am J Hum Genet 68: 299-312, 2001.
2. BERRETTINI, W.H. - Are schizophrenic and bipolar disorders related? A review of family and molecular studies. Biol Psychiatry 48: 531-8, 2000.
3. BLOUIN, J.L.; DOMBROSKE, B.A.; NATH, S.K. ET AL. - Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nature Genet 20: 70-3, 1998.
4. BROOKES, A.J. - The essence of SNPs. Gene 234: 177-86, 1999.
5. BROOKES, A.J.; LERVASLAIHO, H.; SIEGFRIED, M.; BOEHM, J.G.; YUAN, Y.P.; SARKAR, C.M.; BORK, P.; ORTIGAO, F. - HGBASE: a database of SNPs and other variations in and around human genes. Nucleic Acids Res 28: 356-60, 2000.
6. BRZUSTOWICZ, L.M.; HODGKINSON, K.A.; CHOW, E.W.; HONER, W.G.; BASSETT, A.S. - Location of a major susceptibility locus for familiar schizophrenia on chromosome 1q21-q22. Science 288: 678-82, 2000.
7. BUETOW, K.H.; EDMONSON, M.N.; CASSIDY, A.B. - Reliable identification of large numbers of candidate SNPs from public EST data. Nature Genet 21: 323-5, 1999.
8. CAMP, N.J.; NEUHAUSEN, S.L.; TIOBECH, J. ET AL. - Genomewide multipoint linkage analysis of seven extended Palauan pedigrees with schizophrenia, by a Markov-Chain Monte Carlo method. Am J Hum Genet 69: 1278-89, 2001.
9. CARGILL, M.; ALTSHULER, D.; IRELAND, J.; SKLAR, P.; ARDLIE, K.; PATIL, N.; SHAW, N.; LANE, C.R.; Lim, E.P.; ET AL. - Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nature Genet 22: 231-8, 1999.
10. CHUMAXOV, I.; BLUMENFELD, M.; GUERASSIMENKO, O.; CAVAREC, L.; PALICIO, M.; ABDERRAHIM, H.; ET AL. - Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia. Proc Natl Acad Sci 99: 13675-80, 2002.
11. DUNHAM, I.; SHIMIZU, N.; ROE, B.A.; CHISSOE, S.; HUNT, A.R.; COLLINS, J.E.; BRUSKIEWICH, R.; BEARE J. ET AL. - The DNA sequence of human chromosome 22. Nature 402: 489-95, 1999.
12. EKELUND, J.; HOVATTA, I.; PARKER, A.; PAUNIO, T.; VARILO, T.; MARTIN R.; SUHONEN J.; ELLONEN P.; ET AL. - Chromosome 1 loci in Finnish schizophrenia families. Hum Mol Genet 10: 1611-7, 2001.
13. EVANS, W.E.; RELLING, M.V. - Pharmacogenomics: translating functional genomics into rational therapeutics. Science 286: 487-91, 1999.
14. EWING, B.; GREEN, P. - Analysis of expressed sequence tags indicates 35,000 human genes. Nature Genet 25: 232-4, 2000.
15. FIELDS, C.; ADAMS, M.D.; WHITE, O.; VENTER, J.C. - How many genes are in the human genome? Nature Genet 7: 345-6, 1994.
16. FREEDMAN, R.; LEONARD, S.; GAULT, J.M.; HOPKINS, J.; CLONINGER, C.R.; KAUFMANN, C.A.; TSUANG, M.T.; FARONE, S.V.; MALASPINA, D.; SVRAKIC, D.M.; SANDERS, A.; GEJMAN, P. - Linkage disequilibrium for schizophrenia at the chromosome 15q13-14 locus of the alpha7-nicotinic acetylcholine receptor subunit gene (CHRNA7). Am J Med Genet 105: 20-2, 2001.
17. GOTTESMAN, I.I.; SHIELDS, J. - A critical review of recent adoption, twin, and family studies of schizophrenia: behavioral genetics perspectives. Schizophr Bull 2: 360-401, 1976.
18. GURUNG, H.M.; KALSI, G.; BRYNJOLFSON, J.; SIGMUNDSSON, T.; SHERRINGTON, R.; MANKOO, B.S.; READ, T.; MURPHY, P.; BLAVERI, E.; MCQUILLIN, A.; PETURSSON, H.; CURTIS, D. - Genomewide genetic linkage analysis confirms the presence of susceptibility loci for schizophrenia, on chromosomes 1q32.2, 5q33.2, and 8p21-22 and provides support for linkage to schizophrenia, on chromosomes 11q23.3-24 and 20q12.1-11.23. Am J Hum Genet 68: 661-73, 2001.
19. HOVATFA, I.; VARILO, T.; SUVISAARI, J.; TERWILLIGER, J.D.; OLLIKAINEN, V.; ARAJARVI, R.; JUVONEN, H.; KOKKO-SAHIN, M.L.; VAISANEN, L.; MANNILLA, H.; LONNQVIST, J.; PELTONEN, L. - A genomewide screen for schizophrenia genes in an isolated Finnish subpopulation, suggesting multiple susceptibility loci. Am J Hum Genet 65: 1114-24, 1999.
20. INTERNATIONAL HUMAN GENOME SEQUENCIN CONSORTIUM - Initial sequencing and analysis of the human genome. Nature 409: 860-921, 2001.
21. INTERNATIONAL SNP MAP WORKING GROUP - A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409: 928-33, 2001.
22. JONSSON, E.G.; FLYCKT, L.; BURGERT, E.; CROCQ, M.A.; FORSLUND, K.; MATTILA-EVENDEN, M.; RYLANDER, G.; ASBERG, M.; NIMGAONKAR, V.L.; EDMAN, G.; BJERKENSTEDT, L.; WIESEL, F.A.; SEDVALL, G.C. - Dopamine D3 receptor gene Ser9Gly variant and schizophrenia: association study and meta-analysis. Psychiatr Genet 13: 1-12, 2003.
23. JORGENSEN, T.H.; BORGLUM, A.D.; MORS, O.; WANG, A.G.; PINAUD, M.; FLINT, T.J.; DAHL, H.A.; VANG, M.; KRUSE, T.A.; EWALD, H. - Search for common haplotypes on chromosome 22q in patients with schizophrenia or bipolar disorder from the Faroe Islands. Am J Med Genet 114: 245-52, 2002.
24. KENDLER, K.S.; MYERS, J.M.; O'NEILL, F.A.; MARTIN, R.; MURPHY, B.; MACLEAN, C.J.; WALSH, D.; STRAUB, R.E. - Clinical features of schizophrenia and linkage to chromosomes 5q, 6p, 8p, and 10p in the Irish Study of High-Density Schizophrenia Families. Am J Psychiatry 157: 402-8, 2003.
25. KENNEDY, J.L.; GIUFFRA, L.A.; MOISES, H.W.; CAVALLI-SFORZA, L.L.; PAKTIS, A.J.; KIDD, J.R.; CASTIGLIONE, C.M.; SJOGREN, B.; WETTERBERG, L.; KIDD, K.K. - Evidence against linkage of schizophrenia to markers on chromosome 5 in a northern Swedish pedigree. Nature 336: 167-70, 1988.
26. LANDER, E.S.; WEINBERG, R.A. - Genomics: journey to the center of biology. Science 287: 1777-82, 2000.
27. LANDER, E.S.; LINTON, L.M.; BIRREN, B.; NUSBAUM, C.; ZODY, M.C.; BALDWlN, J.; DEVON, K.; DEWAR, K.; DOYLE, M.; FITZHUGH, W. ET AL. - Initial sequencing and analysis of the human genome. Nature 409: 860-921, 2001.
28. LARA, D.R.; GAMA, C.S.; BELMONTE-DE-ABREU, P.; PORTELA, L.V.; GONCALVES, C.A.; FONSECA, M.; HAUCK, S.; SOUZA, D.O. - Increased serum S100B protein in schizophrenia: a study in medication-free patients. J Psychiatr Res 35: 11-4, 2001.
29. LIANG, F.; HOLT, I.; PERTEA, G.; KARAMYCHEVA, S.; SALZBERG, S.L.; QUACKENBUSH, J. - Gene index analysis of the human genome estimates approximately 120,000 genes. Nature Genet 25: 239-40, 2000.
30. LINDHOLM, E.; EKHOLM, B.; BALCIUNIENE, J.; JOHANSSON, G.; CASTENSSON, A. ; KOISTI, M.; NYLANDER, P.O.; PETTERSSON, U.; ADOLFSSON, R.; JAZIN, E. - Linkage analysis of a large Swedish kindred provides further support for a susceptibility locus for schizophrenia on chromosome 6p23. Am J Med Genet 88: 369-77, 1999.
31. LINDHOLM, E.; EKHOLM, B.; SHAW, S.; JALONEN, P.; JOHANSSON, G.; PETTERSSON, U.; SHERRINGTON, R.; ADOLFSSON, R.; JAZIN, E. - A schizophrenia-susceptibility locus at 6q25, in one of the world's largest reported pedigrees. Am J Hum Genet 69: 96-105, 2001.
32. LIU, H.; HEATH, S.C.; SOBIN, C.; Roos, J.L.; GALKE, B.L.; BLUNDELL, M.L. ; LENANE, M.; ROBERTSON, B. ET AL. - Genetic variation at the 22q11 PRODH2/ DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia. Proc Natl Acad Sci USA 99: 3717-22, 2002.
33. LUNG, F.W.; TZENG, D.S.; SHU, B.C. - Ethnic heterogeneity in allele variation in the DRD4 gene in schizophrenia. Schizophr Res 57: 239-45, 2002.
34. MARSH, S.; KWOK, P.; MCLEOD, H.L. - SNP Databases and pharmacogene-tics: Great Start, but a Long Way to Go. Human Mut 20: 174-9, 2002.
35. MCINNIS, M.G.; MCMAHON, F.J.; CROW T.; ROSS C.A.; DELISI L.E. - Anticipation in schizophrenia: a review and reconsideration. Am J Med Genet 88: 686-93, 1999.
36. MCLEOD, H.L.; EVANS, W.E. - Pharmacogenomics: unlocking the human genome for better drug therapy. Ann Rev Pharmacol Tox 41: 101-21, 2001.
37. MIRNICS, K.; MIDDLETON, F.A,; STANWOOD, G.D.; LEWIS, D.A.; LEVITT, P - Disease -specific changes in regulator of G-protein signaling 4 (RGS4) expression in schizophrenia. Mol Psychiatry 6: 293-301, 2001.
38. MOISES, H.W.; YANG, L.; KRISTBJARNARSON, H.; WIESE, C.; BYERLEY, W.; MACCIARDI, F.; AROLT, V.; BLACKWOOD, D.; LIU, X.; SJOGREN, B.; ET AL. - An international two-stage genome-wide search for schizophrenia susceptibility genes. Nature Genet 11: 321-4, 1995.
39. MUIR, W.J.; THOMSON, M.L.; MCKEON, P.; MYNETT-JOHNSON, L.; WHITTON, C.; EVANS, K.L.; PORTEOUS, D.J.; BLACKWOOD, D.H. - Markers close to the dopamine D5 receptor gene (DRD5) show significant association with schizophrenia but not bipolar disorder. Am J Med Genet 105: 152-8, 2001.
40. NATURE - Human genomes, public and private. Nature 409: 745, 2001.
41. NOBLE, E.P. - D2 dopamine receptor gene in psychiatric and neurologic disorders and its phenotypes. Am J Med Genet 116: 103-25, 2003.
42. PAUNIO, T.; EKELUND, J.; VARILO, T. ET AL. - Genome-wide scan in a nationwide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosomes 2q and 5q. Hum Mol Genet 10: 3037-48, 2001.
43. ROEST-CROLLIUS, H.; JAILLON, O.; BERNOT, A.; DASILVA, C.; BOUNEAU, L.; FISCHER, C.; FIZAMES, C.; WINCKER, P.; BROTTIER, P.; QUETIER, F.; SAURIN, W.; WEISSENBACH, J. - Estimate of human gene number provided by genome-wide analysis using Tetraodon nigroviridis DNA sequence. Nature Genet 25: 235-8, 2000.
44. SAWA, A.; SNYDER, S.H. - Schizophrenia: diverse approaches to a complex disease. Science 296: 692-5, 2002.
45. SCHALLING, M.; HUDSON, T.J.; BUETOW, K.H.; HOUSMAN, D.E. - Direct detection of novel expanded trinucleotide repeats in the human genome. Nature Genet 4: 135-9, 1993.
46. SCHWAB, S.G.; WILOENAUER, D.B. - Chromosome 22 workshop report. Am J Med Genet 88: 276-8, 1999.
47. SEEMAN, P.; GUAN, H.C.; VAN TOL, H.H.M. - Dopamine D4 receptors elevated in schizophrenia. Nature 365: 441-5, 1993.
48. SHERRINGTON, R.; BRYNJOLFSSON, J.; PETURSSON, H.; POTTER, M.; DUDLESTON, K.; BARRACLOUGH, B.; ET AL. - Localization of a susceptibility locus for schizophrenia on chromosome 5. Nature 336: 164-7, 1988.
49. SHIFMAN, S.; BRONSTEIN, M.; STERNFELD, M.; PISANTE-SHALOM, A.; LEV-LEHMAN, E,; WEIZMAN, A. ET AL. - A highly significant association between a COMT haplotype and schizophrenia. Am J Hum Genet 71: 1296-302, 2002.
50. SILVERMAN, J.M.; GREENBERG, D.A.; ALTSTIEL, L.D.; SIEVER, L.J.; MOHS, R.C.; SMITH, C.J.; ET AL. - Evidence of a locus for schizophrenia and related disorders on the short arm of chromosome 5 in a large pedigree. Am J Med Genet 67: 162-71, 1996.
51. STEFANSSON, H., SIGURDSSON E.; STEINTHORSDOTTIR V.; BJORNSDOTTIR, S.; SIGMUNDSSON, T.; GHOSH, S.; BRYNJOLFSSON, J.; GUNNARSDOTTIR, S.; IVARSSON, O.; CHOU, T.T.; HJALTASON, O.; ET AL. - Neuregulin 1 and susceptibility to schizophrenia. Am J Hum Genet 71: 877-92, 2002.
52. STOBER, G.; SAAR K.; RUSCHENDORF, F.; MEYER, J.; NURNBERG, G.; JATZKE, S. ET AL. - Splitting schizophrenia: periodic catatonia-susceptibility locus on chromosome 15q15. Am J Hum Genet 67: 1201-7, 2000.
53. STOBER, G.; SEELOW, D.; RUSCHENDORF, F.; EKICI, A..; BECKMANN, H.; REIS, A. - Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity. Hum Genet 111: 323-30, 2002.
54. STRAUB, R.E.; MACLEAN, C.J.; O'NEILL, F.A.; BURKE, J.; MURPHY, B.; DUKE, F.; SHINKWIN, R.; WEBB, B.T.; ZHANG, J.; WALSH, D. ET AL. - A potential vulnerability locus for schizophrenia on chromosome 6p24-22: evidence for genetic heterogeneity. Nature Genet 11: 287, 1995.
55. VENTER, J.C.; ADAMS, M.D.; MYERS, E.W. ET AL. - The sequence of the human genome. Science 291: 1304-51, 2001.
56. WASSINK, T.H.; NOPOULOS, P.; PIETILA, J.; CROWE, R.R.; ANDREASEN, N.C. - NOTCH4 and the frontal lobe in schizophrenia. Am J Med Genet 118: 1-7, 2003.