Functional polymorphisms in dopamine and serotonin pathway genes

Human Mutation

Volumn 27, Issue 1, 2006, Pages 1-13

  D'Souza, Ursula M ^a   Craig, Ian W ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Dopamine; Functional polymorphism; Monoamine neurotransmitter pathway; Regulatory; Serotonin

Indexed keywords

AMINE OXIDASE (FLAVIN CONTAINING) ISOENZYME A; BRAIN DERIVED NEUROTROPHIC FACTOR; CATECHOL METHYLTRANSFERASE; DNA BINDING PROTEIN; DOPAMINE; DOPAMINE 2 RECEPTOR; DOPAMINE 3 RECEPTOR; DOPAMINE 4 RECEPTOR; DOPAMINE BETA MONOOXYGENASE; DOPAMINE TRANSPORTER; METHAMPHETAMINE; SEROTONIN; SEROTONIN 1B RECEPTOR; SEROTONIN 2A RECEPTOR; SEROTONIN TRANSPORTER; TRANSCRIPTION FACTOR; TYROSINE 3 MONOOXYGENASE;

AGGRESSION; ALCOHOLISM; ANTISOCIAL BEHAVIOR; ATTENTION DEFICIT DISORDER; BDNF GENE; BEHAVIOR DISORDER; BIPOLAR DISORDER; COMT GENE; DAT1 GENE; DBH GENE; DRD2 GENE; DRD3 GENE; DRD4 GENE; DRUG DEPENDENCE; GENE; GENE EXPRESSION; GENETIC POLYMORPHISM; HTR1B GENE; HTR2A GENE; HUMAN; LYMPHOBLAST; MAJOR DEPRESSION; MAOA GENE; MOOD DISORDER; NEUROIMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVIEW; SCHIZOAFFECTIVE PSYCHOSIS; SCHIZOPHRENIA; SERT GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SLC6A3 GENE; SLC6A4 GENE; TH GENE;

ANIMALS; DOPAMINE; HUMANS; POLYMORPHISM, GENETIC; RECEPTORS, DOPAMINE; RECEPTORS, SEROTONIN; SEROTONIN;

ANIMALIA; MAMMALIA;

EID: 30044442790     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20278     Document Type: Review

References (160)

1. Abdolmaleky HM, Faraone SV, Glatt SJ, Tsuang MT. 2004. Meta-analysis of association between the T102C polymorphism of the 5HT2a receptor gene and schizophrenia. Schizophrenia Res 67:53-62.
2. Akil M, Kolachana BS, Rothmond DA, Hyde TM, Weinberger DR, Kleinman JE. 2003. Catechol-O-methyltransferase genotype and dopamine regulation in the human brain. J Neurosci 23:2008-2013.
3. Albanese V, Biguet NF, Kiefer H, Bayard E, Mallet J, Meloni R. 2001. Quantitative effects on gene silencing by allelic variation at a tetranucleotide microsatellite. Hum Mol Genet 10:1785-1792.
4. 2 receptor gene is associated with schizophrenia. Hum Mol Genet 6:577-582.
5. Arranz MJ, Li T, Munro J, Liu X, Murray R, Collier DA, Kerwin RW. 1998. Lack of association between a polymorphism in the promoter region of the dopamine-2 receptor gene and clozapine response. Pharmacogenetics 8:481-484.
6. 4 receptor repeat: analysis of different native and mutant forms of the human and rat genes. Mol Pharmacol 46:364-373.
7. Asghari V, Sanyal S, Buchwaldt S, Paterson A, Jovanovic V, Van Tol HH. 1995. Modulation of intracellular cyclic AMP levels by different human dopamine D4 receptor variants. J Neurochem 65:1157-1165.
8. 3 receptor gene in schizophrenia. Mol Psychiatry 1:125-132.
9. Balciuniene J, Emilson L, Oreland L, Pettersson U, Jazin EE. 2002. Investigation of the functional effect of monoamine oxidase polymorphisms in human brain. Hum Genet 110:1-7.
10. Baron M. 1999. Candidate genes and behavioural traits - candidly. Arch Gen Psychiatry 56:582-583.
11. Barr CL, Xu C, Kroft J, Feng Y, Wigg K, Zai G, Tannock R, Schachar R, Malone M, Roberts W, Nothen MM, Grunhage F, Vanderbergh DJ, Uhl G, Sunohara G, King N, Kennedy JL. 2001. Haplotype study of three polymorphisms at the dopamine transporter locus confirm linkage to attention-deficit/hyperactivity disorder. Biol Psychiatry 49:333-339.
12. Barr CS, Newman TK, Shannon C, Parker C, Dvoskin RL, Becker ML, Schwandt M, Champoux M, Lesch KP, Goldman D, Suomi SJ, Higley JD. 2004. Rearing condition and the rh5-HTTLPR interact to influence limbic-hypthalamic-pituitary-adrenal axis response to stress in infant macaques. Biol Psychiatry 55:733-738.
13. Battersby S, Ogilvie AD, Smith CA, Blackwood DH, Muir WJ, Quinn JP, Fink G, Goodwin GM, Harmar AJ. 1996. Structure of a variable number tandem repeat of the serotonin transporter gene and association with affective disorder. Psychiatr Genet 6:177-181.
14. Bennett AJ, Lesch KP, Heils A, Long JC, Lorenz JG, Shoaf SE, Champoux M, Sumomi SJ, Linnoila MV, Higley JD. 2002. Early experience and serotonin transporter gene variation interact to influence primate CNS function. Mol Psychiatry 7:118-122.
15. 108/158 Met genotype and olanzapine treatment on prefrontal cortical function in patients with schizophrenia. Am J Psychiatry 161:1798-1805.
16. Black GC, Chen ZY, Craig IW, Powell JF. 1991. Dinucleotide repeat polymorphism at the MAOA locus. Nucleic Acid Res 19:689.
17. Bray NJ, Buckland PR, Williams NM, Williams HJ, Norton N, Owen MJ, O'Donovan MC. 2003. A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain. Am J Hum Genet 73:152-161.
18. Bray NJ, Buckland PR, Hall H, Owen MJ, O'Donovan MC. 2004. The serotonin-2A receptor gene locus does not contain common polymorphism affecting mRNA levels in adult brain. Mol Psychiatry 9:109-114.
19. Breen G, Brown J, Maude S, Fox H, Collier D, Li T, Arranz M, Shaw D, St. Clair D. 1999. -141 C del/ins polymorphism of the dopamine receptor 2 gene is associated with schizophrenia in a British population. Am J Med Genet 20;88:407-410.
20. Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA. 1993. Abnormal behaviour associated with a point mutation in the structural gene for monoamine oxidase A. Science 262:578-580.
21. Cases O, Seif I, Grimsby J, Gaspar P, Chen K, Pournin S, Muller U, Aguet M, Babinet C, Shih JC, De Maeyer E. 1995. Aggressive behaviour and altered amounts of brain serotonin and norepinephrine in mice lacking MAOA. Science 270:362-364.
22. 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 297:851-854.
23. Caspi A, Sugden K, Moffitt TE, Taylor A, Craig IW, Harrington H, McClay J, Mill J, Martin J, Braithewaite A, Poulton R. 2003. Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene. Science 301:386-389.
24. Castro Costa MR, Edelstein SB, Castiglione CM, Chao H, Breakefield XO. 1980. Properties of monoamine oxidase in control and Lesch-Nyhan fibroblasts. Biochem Genet 18:577-590.
25. Catalano M. 2001. Functionally gene-linked polymorphic regions and genetically controlled neurotransmitters metabolism. Eur Neuropsychopharmacol 11:431-439.
26. Chen C-K, Chen S-L, Mill J, Huang Y-S, Lin S-K, Curran S, Purcell S, Sham P, Asherson P. 2003. The dopamine transporter gene is associated with attention deficit hyperactivity disorder in a Taiwanese sample. Mol Psychiatry 8:393-396.
27. Chen J, Lipska BK, Halim N, Ma QD, Matsumoto M, Melhem S, Kolachana BS, Hyde TM, Herman MM, Apud J, Egan MF, Kleinman JE, Weinberger DR. 2004a. Functional analysis of genetic variation in catechol-O-methyltransferase (COMT): effects on mRNA, protein and enzyme activity in post-mortem human brain. Am J Hum Genet 75:807-821.
28. Chen Z-Y, Patel PD, Sant G, Meng C-X, Teng KK, Hempstead BL, Lee FS. 2004b. Variant brain-derived neurotrophic factor (BDNF) (Met66) alters the intracellular trafficking and activity-dependent secretion of wild-type BDNF in neuroscretory cells and cortical neurons. J Neurosci 24:4401-4411.
29. Collier DA, Arranz MJ, Sham P, Battersby S, Vallada H, Gill P, Aitchison KJ, Sodhi M, Li T, Roberts GW, Smith B, Morton J, Murray RM, Smith D, Kirov G. 1996. The serotonin transporter is a potential susceptibility factor for bipolar affective disorder. Neuroreport 7:1675-1679.
30. Cook EH, Stein MA, Krasowki MD, Cox NJ, Olkon DM, Kieffer JE, Leventhal BL. 1995. Association of attention-deficit disorder and the dopamine transporter gene. Am J Hum Genet 56:993-998.
31. Craig IW 2005. The role of monoamine oxidase A, MAOA, in the aetiology of antisocial behaviour; the importance of gene environment interactions. In: Molecular mechanisms influencing aggressive behaviours. Novartis Foundation Symposium 268. John Wiley & Sons Ltd. p 227-237.
32. 3 receptor gene. J Med Genet 29:858-860.
33. Curran S, Mill J, Tahir E, Kent L, Richards S, Gould A, Huckett L, Sharp J, Batten C, Fernando S, Ozbay F, Yazgan Y, Simonoff E, Thompson M, Taylor E, Asherson P. 2001. Association study of a dopamine transporter polymorphism and attention deficit hyperactivity disorder in UK and Turkish samples. Mol Psychiatry 6:425-428.
34. Daly G, Hawi Z, Fitzgerald M, Gill M. 1999. Mapping susceptibility loci in attention deficit hyperactivity disorder: preferential transmission of parental alleles at DAT, DBH and DRD5 to affected children. Mol Psychiatry 4:192-196.
35. Deckert J, Catalano M, Syagailo YV, Bosi M, Okladnova O, Di Bella D, Nothen MM, Maffei P, Franke P, Fritze J, Maier W, Propping P, Beckmann H, Bellodi L, Lesch K-R 1999. Excess of high activity monoamine oxidase A gene promoter alleles in female patients with panic disorder. Hum Mol Genet 8:621-624.
36. Delbruck SJ, Wendel B, Grunewald I, Sander T, Morris-Rosendahl D, Crocq MA, Berrettini WH, Hoehe MR. 1997. A novel allelic variant of the human serotonin transporter gene regulatory polymorphism. Cytogenet Cell Genet 79:214-220.
37. Denney RM, Sharma A, Dave SK, Waguespack A. 1994. A new look at the promoter of the human monoamine oxidase A gene: mapping transcription initiation sites and capacity to drive luciferase expression. J Neurochem 63:843-856.
38. Denney RM, Koch H, Craig IW. 1999. Association between monoamine oxidase A activity in human male skin fibroblasts and genotype of the MAOA promoter-associated variable number tandem repeat. Hum Genet 105:542-551.
39. Ding YC, Chi HC, Grady DL, Morishima A, Kidd JR, Kidd KK, Flodman P, Spence MA, Schuck S, Swanson JM, Moyzis RK. 2002. Evidence of positive selection acting at the human dopamine receptor D4 gene locus. Proc Natl Acad Sci USA 99:309-314.
40. D'Souza UM, Russ C, Tahir E, Mill J, McGuffin P, Asherson PJ, Craig IW. 2004. Functional effects of a tandem duplication polymorphism in the 5′ flanking region of the DRD4 gene. Biol Psychiatry 56:691-697.
41. Duan J, Sanders AR, Vander Molen JE, Martinolich L, Mowry BJ, Levinson DF, Crowe RR, Silverman JM, Gejman PV. 2003. Polymorphisms in the 5′-untranslated region of the human serotonin receptor 1B (HTR1B) gene affect gene expression. Mol Psychiatry 8:901-1910.
42. Dubertret C, Gorwood P, Ades J, Feingold J, Schwartz J-C, Sokoloff P. 1998. Meta-analysis of DRD3 gene and schizophrenia: ethnic heterogeneity and significant association in Caucasians. Am J Med Genet 81:318-322.
43. 108/158 Met genotype on frontal lobe function and risk for schizophrenia. Proc Natl Acad Sci USA 98:6917-6922.
44. Egan MF, Kojima M, Callicott JH, Goldberg TE, Kolachana BS, Bertolino A, Zaitsev E, Gold B, Goldman D, Dean M, Lu B, Weinberger DR. 2003. The BDNF valoomet polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function. Cell 112:257-269.
45. Eley TC, Sugden K, Corsico A, Gregory AM, Sham P, McGuffin P, Plomin R, Craig IW. 2004. Gene-environment interaction analysis of serotonin system markers with adolescent depression. Mol Psychiatry 9:908-915.
46. 4 gene 7-repeat allele and attention deficit hyperactivity disorder. Am J Psychiatry 156:768-770.
47. 4 receptor gene and attention deficit hyperactivity disorder. Am J Psychiatry 158:1052-1057.
48. Faraone SV, Perlis RH, Doyle AE, Smoller JW, Goralnick JJ, Holmgren MA, Sklar P. 2005. Molecular genetics of attention-deficit/hyperactivity disorder. Biol Psychiatry 57:1313-1323.
49. Fiskerstrand CE, Lovejoy EA, Quinn JP. 1999. An intronic polymorphic domain often associated with susceptibility to affective disorders has allele dependent differential enhancer activity in embryonic stem cells. FEBS Lett 458:171-174.
50. Flattem NL, Blakely RD. 2000. Modified structure of the human serotonin transporter promoter. Mol Psychiatry 5:110-115.
51. Frodl T, Meisenzahl EM, Zill P, Baghai T, Rujescu D, Leinsinger G, Bottlender R, Schule C, Zwanzger P, Engel RR, Rupprecht R, Bondy B, Reiser M, Moller HJ. 2004. Reduced hippocampal volumes associated with the long variant of the serotonin transporter polymorphism in major depression. Arch Gen Psychiatry 61:177-183.
52. Fuke S, Suo S, Takahashi N, Koike H, Sasagawa N, Ishiura S. 2001. The VNTR polymorphism of the human dopamine transporter (DAT1) gene affects gene expression. Pharmacogenomics J 1:152-156.
53. Gill M, Daly G, Heron S, Hawi Z, Fitzgerald M. 1997. Confirmation of association between attention deficit hyperactivity disorder and a dopamine transporter polymorphism. Mol Psychiatry 2:311-313.
54. Goldberg TE, Egan MF, Gscheidle T, Coppola R, Weickert T, Kolachana BS, Goldman D, Weinberger DR. 2003. Executive subprocesses in working memory: relationship to catechol-O-methyltransferase Val158Met genotype and schizophrenia. Arch Gen Psychiatry 60:889-896.
55. Greenberg BD, Tolliver TJ, Huang S-J, Li Q, Bengel D, Murphy DL. 1999. Genetic variation in the serotonin transporter promoter region affects serotonin uptake in human blood platelets. Am J Med Genet 88:83-87.
56. Greenwood TA, Kelsoe JR. 2003. Promoter and intronic variants affect the transcriptional regulation of the human dopamine transporter gene. Genomics 82:511-519.
57. Hariri A, Mattay VS, Tessitore A, Kolachana B, Fera F, Goldman D, Egan MF, Weinberger DR. 2002. Serotonin transporter genetic variation and the response of the human amygdala. Science 297:400-403.
58. 66met polymorphism affects human memory-related hippocampal activity and predicts memory performance. J Neurosci 23:6690-6694.
59. Harvey L, Reid RE, Caixia M, Knight PJK, Pfeifer TA, Grigliatti TA. 2003. Human genetic variations in the 5HT2A receptor: a single nucleotide polymorphism identified with altered response to clozapine. Pharmacogenetics 13:107-118.
60. Heils A, Teufel A, Petri S, Seemann M, Bengel D, Balling U, Riederer P, Lesch K-P. 1995. Functional promoter and polyadenylation site mapping of the human serotonin (5-HT) transporter gene. J Neural Transm [Gen Sect] 102:247-254.
61. Heils A, Teufel A, Petri S, Stober G, Riederer P, Bengel D, Lesch KP. 1996. Allelic variation of human serotonin transporter. J Neurochem 66:2621-2624.
62. Heinz A, Goldman D, Jones DW, Palmour R, Hommer D, Gorey JG, Lee KS, Linnoila M, Weinberger DR. 2000a. Genotype influences in vivo dopamine transporter availability in human striatum. Neuropsychopharmacology 22:133-139.
63. Heinz A, Jones DW, Mazzanti C, Goldman D, Ragan P, Hommer D, Linnoila M, Weinberger DR. 2000b. A relationship between serotonin transporter genotype and in vivo protein expression and alcohol neurotoxicity. Biol Psychiatry 47:643-649.
64. Hinds HL, Hendriks RW, Craig IW, Chen ZY. 1992. Characterization of a highly polymorphic region near the first exon of the human MAOA gene containing a GT dinucleotide and a novel VNTR motif. Genomics 13:896-897.
65. 4 receptor gene and dopamine transporter gene in attention deficit hyperactivity disorder. Mol Psychiatry 5:523-530.
66. Hotamisligil GS, Breakfield XO. 1991. Human monoamine oxidase A gene determines levels of enzyme activity. Am J Hum Genet 49:383-392.
67. Hranilovic D, Stefulj J, Furac I, Kubat M, Balija M, Jernej B. 2003. Serotonin transporter gene promoter (5-HTTLPR) and intron 2 (VNTR) polymorphism in Croatian suicide victims. Biol Psychiatry 54:884-889.
68. Hranilovic D, Stefulj J, Schwab S, Borrmann-Hassenbach M, Albus M, Jernej B, Wildenauer D. 2004. Serotonin transporter promoter and intron 2 polymorphisms: relationship between allelic variants and gene expression. Biol Psychiatry 55:1090-1094.
69. Hrdina PD, Du L. 2001. Levels of serotonin receptor 2A higher in suicide victims? Am J Psychiatry 158:147-148.
70. Jacobsen LK, Staley JK, Zoghbi SS, Seibyl JR, Kosten TR, Innis RB, Gelernter J. 2000. Prediction of dopamine transporter binding availability by genotype: a preliminary report. Am J Psychiatry 157:1700-1703.
71. Jonsson EG, Nothen MM, Neidt H, Forslund K, Rylander G, Mattila-Evenden M, Asberg M, Propping P, Sedvall GC. Association between a promoter polymorphism in the dopamine D2 receptor gene and schizophrenia. Schizophrenia Res 40:31-36.
72. Kaiser R, Muller-Oerlinghausen B, Filler D, Tremblay P-B, Berghofer A, Roots I, Brockmoller J. 2002. Correlation between serotonin uptake in human blood platelets with the 44-bp polymorphism and the 17-bp variable number of tandem repeat of the serotonin transporter. Am J Med Genet 114:323-328.
73. Kamakura S, Iwaki A, Matsumoto M, Fukumaki Y. 1997. Cloning and characterisation of the 5′ flanking region of the human dopamine D4 receptor gene. Biochem Biophys Res Commun 235:321-326.
74. Kaufman J, Yang B-Z, Douglas-Palumberi H, Houshyar S, Lipschitz D, Krystal JH, Gerlenter J. 2004. Social supports and serotonin transporter gene moderate depression in maltreated children. Proc Natl Acad Sci USA 101:17316-17321.
75. Kazmi MA, Snyder LA, Cypess AM, Graber SG, Sakmar TP. 2000. Selective reconstitution of human D4 dopamine receptor variants with Gia subtypes. Biochem 39:3734-3744.
76. Kirley A, Hawi Z, Daly G, McCarron M, Mullins C, Millar N, Waldman I, Fitzgerald M, Gill M. 2002. Dopaminergic system genes in ADHD: toward a biological hypothesis. Neuropsychopharmacology 27:607-619.
77. Klenova E, Scott AC, Roberts J, Shamsuddin S, Lovejoy EA, Bergmann S, Bubb VJ, Royer H-D, Quinn JP. 2004. YB-1 and CTCF differentially regulate the 5-HTT polymorphic intron 2 enhancer which predisposes to a variety of neurological disorders. J Neurosci 24:5966-5973.
78. Kotler M, Barak P, Cohen H, Averbuch IE, Grinshpoon A, Gritsenko I, Nemanov L, Ebstein R. 1999. Homicidal behavior in schizophrenia associated with a genetic polymorphism detrmining low catechol-O-methytransferase (COMT) activity. Am J Med Genet 88:628-633.
79. Kouzmenko AP, Hayes WL, Pereira AM, Dean B, Burnet PWJ, Harrison PJ. 1997. 5-HT2A receptor polymorphism and steady state receptor expression in schizophrenia. Lancet 349:1815.
80. Kouzmenko AP, Scaffidi A, Pereira AM, Hayes WL, Copolov DL, Dean B. 1999. No correlation between A(-1438)G polymorphism in 5-HT2A receptor gene promoter and the density of frontal cortical 5-HT2A receptors in schizophrenia. Hum Hered 49:103-105.
81. Kuersten S, Goodwin EB. 2003. The power of the 3′UTR: translational control and development. Nat Rev Genet 4:626-637.
82. Kunugi H, Hattori M, Kato T, Tatsumi M, Sakai T, Sasaki T, Hirose T, Nanko S. 1997. Serotonin transporter gene polymorphisms: ethnic difference and possible association with bipolar affective disorder. Mol Psychiatry 2:457-462.
83. Lachman HM, Nolan KA, Mohr P, Saito T, Volavka J. 1998. Association between catechol O-methyltransferase genotype and violence in schizophrenia and schizoaffective disorder. Am J Psychiatry 155:835-837.
84. LaHoste GJ, Swanson JM, Wigal SB, Glabe C, Wigal T, King N, Kennedy JL. 1996. Dopamine D4 receptor gene polymorphism is associated with attention deficit hyperactivity disorder. Mol Psychiatry 1:121-124.
85. 3 receptor as a useful polymorphism for investigating psychiatric disorders. Psychiatr Genet 2:249-256.
86. Lesch KP, Balling U, Gross J, Strauss K, Wolozin BL, Murphy DL, Riederer P. 1994. Organization of the human serotonin transporter gene. J Neural Transm [Gen Sect] 95:157-162.
87. Lesch K-P, Bengel D, Heils A, Sabol SZ, Greenberg BD, Petri S, Benjamin J, Muller CR, Hamer DH, Murphy DL. 1996. Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region. Science 274:1527-1531.
88. Li T, Arranz M, Aitchison KJ, Bryant C, Liu X, Kerwin RW, Murray R, Sham P, Collier DA. 1998. Case-control, haplotype relative risk and transmission disequilibrium analysis of a dopamine D2 receptor functional promoter polymorphism in schizophrenia. Schizophr Res 32:87-92.
89. Li T, Chen C-K, Hu X, Ball D, Lin S-K, Chen W, Sham PC, Loh E-W, Murray RM, Collier DA. 2004. Association analysis of the DRD4 and COMT genes in methamphetamine abuse. Am J Med Genet 129:120-124.
90. Litcher JB, Barr CL, Kennedy JL, Van Tol HH, Kidd KK, Livak KJ. 1993. A hypervariable segment in the human dopamine D4 (DRD4) gene. Hum Mol Genet 2:767-773.
91. Little KY, McLaughlin DP, Zhang L, Livermore CS, Dalack GW, McFinton PR, DelProposto ZS, Hill E, Cassin BJ, Watson SJ, Cook EH. 1998. Cocaine, ethanol, and genotype effects on human midbrain serotonin transporter binding sites and mRNA levels. Am J Psychiatry 155:207-213.
92. Lotta T, Vidgren J, Tilgmann C, Ulmanen I, Melen K, Julkunen I, Taskinen J. 1995. Kinetics of human soluble and membrane-bound catechol O methyltransferase: a revised mechanism and description of the thermolabile variant of the enzyme. Biochem 34:4202-4210.
93. Lovejoy EA, Scott AC, Fiskerstrand CE, Bubb VJ, Quinn JP. 2003. The serotonin transporter intronic VNTR enhancer correlated with a predisposition to affective disorders has distinct regulatory elements within the domain based on the primary DNA sequence of the repeat unit. Eur J Neurosci 17:417-420.
94. 3 receptor with the Semliki Forest virus system. Biochem Biophys Res Commun 225:1068-1072.
95. MacKenzie A, Quinn J. 1999. A serotonin transporter gene intron 2 polymorphic region, correlated with affective disorders, has allele-dependent differential enhancer-like properties in the mouse embryo. Proc Natl Acad Sci USA 96:15251-15255.
96. Mann JJ, Huang Y-Y, Underwood M, Kassir SA, Oppenheim S, Kelly TM, Dwork AJ, Arango V. 2000. A serotonin transporter gene promoter polymorphism (5-HTTLPR) and prefrontal cortical binding in major depression and suicide. Arch Gen Psychiatry 57:729-738.
97. 3 receptor gene and schizophrenia. Am J Med Genet 54:21-26.
98. Martinez D, Gelernter J, Abi-Dargham A, van Dyck CH, Kegeles L, Innis RB, Laruelle M. 2001. The variable number of tandem repeats polymorphism of the dopamine transporter gene is not associated with significant change in dopamine transporter phenotype in humans. Neuropsychopharmacology 24:553-560.
99. 158-met geneotype and individual variation in the brain response to amphetamine. Proc Natl Acad Sci USA 100:6186-6191.
100. McAllister TW, Summerall L. 2003. Genetic polymorphisms in the expression and treatment of neuropsychiatric disorders. Curr Psychiatry Rep 5:400-409.
101. McCracken JT, Smalley SL, McGough JJ, Crawford L, Del'Homme M, Cantor RM, Liu A, Nelson SF. 2000. Evidence for linkage of a tandem duplication polymorphism upstream of the dopamine D4 receptor gene (DRD4) with attention deficit hyperactivity disorder (ADHD). Mol Psychiatry 5:531-536.
102. Meloni R, Laurent C, Campion D, Ben Hadjali B, Thibaut F, Dollfus S, Petit M, Samolyk D, Martinez M, Poirier M-F, Mallet J. 1995. A rare allele of a microsatellite located in the tyrosine hydroxylase gene found in schizophrenic patients. C R Acad Sci III 318:803-809.
103. Meloni R, Albanese V, Ravassard P, Treilhou F, Mallet J. 1998. A tetranucleotide polymorphic microsatellite, located in the first intron of the tyrosine hydroxylase gene, acts as a transcription regulatory element in vitro. Hum Mol Genet 7:423-428.
104. Michaelovsky E, Frisch A, Rockah R, Peleg L, Magal N, Shohat M, Weizman R. 1999. A novel allele in the promoter region of the human serotonin transporter gene. Mol Psychiatry 4:97-99.
105. Michelhaugh SK, Fiskerstrand C, Lovejoy E, Bannon MJ, Quinn JP. 2001. The dopamine transporter gene (SLC6A3) variable number of tandem repeats domain enhances transcription in dopamine neurons. J Neurochem 79:1033-1038.
106. Mignone F, Gissi C, Liuni S, Pesole G. 2002. Untranslated regions of mRNAs. Genome Biol 3:0004.1-0004.10.
107. 4 receptor gene: evidence of association but no linkage in a UK sample. Mol Psychiatry 6:40-44.
108. Mill J, Asherson P, Browes C, D'Souza U, Craig I. 2002. Expression of the dopamine transporter gene is regulated by the 3′UTR VNTR: evidence from brain and lymphocytes using quantitative RT-PCR. Am J Med Gen 114:975-979.
109. Mill J, Fischer N, Curran S, Richards S, Taylor E, Asherson P. 2003. Polymorphisms in the dopamine D4 receptor gene and attention-deficit hyperactivity disorder. Neuroreport 14:1463-1466.
110. Mill J, Asherson P, Craig I, D'Souza UM. 2005. Transient expression analysis of allelic variants of a VNTR in the dopamine transporter gene (DAT1). BMC Genet 6:3.
111. Miller GM, Madras BK. 2002. Polymorphisms in the 3′-untranslated region of human and monkey dopamine transporter genes affect reporter gene expression. Mol Psychiatry 7:44-55.
112. Mortensen OV, Thomassen M, Larsen MB, Whittemore SR, Wiborg O. 1999. Functional analysis of a novel human serotonin transporter gene promoter in immortalized raphe cells. Mol Brain Res 68:141-148.
113. Mossner R, Daniel S, Albert D, Heils A, Okladnova O, Schmitt A, Lesch K-P. 2000. Serotonin transporter function is modulated by brain-derived neurotrophic factor (BDNF) but not nerve growth factor (NGF). Neurochem Int 36:197-202.
114. Murphy DL, Li Q, Engel S, Wichems C, Andrews A, Lesch K-P, Uhl G. 2001. Genetic perspectives on the serotonin transporter. Brain Res Bull 56:487-494.
115. Nakamura M, Ueno S, Sano A, Tanabe H. 2000. The human serotonin transporter gene linked polymorphism (5-HTTLPR) shows ten novel allelic variants. Mol Psychiatry 5:32-38.
116. Naylor L, Dean B, Pereira A, Mackinnon A, Kouzmenko A, Copolov D. 1998. No association between the serotonin transporter-linked promoter region polymorphism and either schizophrenia or density of the serotonin transporter in human hippocampus. Mol Med 4:671-674.
117. Neves-Pereira M, Mundo E, Muglia P, King N, Macciardi F, Kennedy JL. 2002. The brain-derived neurotrophic factor gene confers susceptibility to bipolar disorder: evidence from a family-based association study. Am J Hum Genet 71:651-655.
118. Ogilvie AD, Battersby S, Bubb VJ, Fink G, Harmar AJ, Goodwin G, Smith CA. 1996. Polymorphism in serotonin transporter gene associated with susceptibility to major depression. Lancet 347:731-733.
119. Okuyama Y, Ishiguro H, Nankai M, Shibuya H, Watanabe A, Arinami T. 2000. Identification of a polymorphism in the promoter region of DRD4 associated with the human novelty seeking personality trait. Mol Psychiatry 5:64-69.
120. Oswald LM, McCaul M, Choi L, Yang X, Wand GS. 2004. Catechol-O- Methyltransferase polymorphism alters hypothalamic-pituitary-adrenal axis responses to naloxone: a preliminary report. Biol Psychiatry 55:102-105.
121. Parsons MJ, D'Souza UM, Arranz MJ, Kerwin RW, Makoff AJ. 2004. The -1438A/G polymorphism in the 5-hydroxytryptamine type 2A receptor gene affects promoter activity. Biol Psychiatry 56:406-410.
122. Polesskaya OO, Sokolov BP. 2002. Differential expression of the "C" and "T" alleles of the 5-HT2A receptor gene in the temporal cortex of normal individuals and schizophrenics. J Neurosci Res 67:812-822.
123. Polymeropoulos M, Xiao H, Rath D, Merril C. 1991. Tetranucleotide repeat polymorphism at the human tyrosine hydroxylase gene (TH). Nucleic Acids Res 19:3753.
124. Porter CJ, Nahmias J, Wolfe J, Craig IW. 1992. Dinucleotide repeat polymorphism at the human dopamine B-hydroxylase (DBH) locus. Nucleic Acids Res 20:1429.
125. Rogers G, Joyce P, Mulder R, Sellman D, Miller A, Allington M, Robin O, Wells E, Kennedy M. 2004. Association of a duplicated repeat polymorphism in the 5′-untranslated region of the DRD4 gene with novelty seeking. Am J Med Genet 126B:95-98.
126. Roman T, Schmitz M, Polanczyk GV, Eizirik M, Rohde LA, Hutz MH. 2002. Further evidence for the association between attention-deficit/hyperactivity disorder and the dopamine-beta-hydroxylase gene. Am J Med Genet 114:154-158.
127. Rowe DC, Stever C, Giedinghagen LN, Gard JMC, Cleveland HH, Terris ST, Mohr JH, Sherman S, Abramowitz A, Waldman ID. 1998. Dopamine DRD4 receptor polymorphism and attention deficit hyperactivity disorder. Mol Psychiatry 3:419-426.
128. Rujescu D, Giegling I, Gietl A, Hartmann AM, Moller H-J. 2003. A functional single nucleotide polymorphism (V158M) in the COMT gene is associated with aggressive personality traits. Biol Psychiatry 54:34-39.
129. Sabol SZ, Hu S, Hamer D. 1998. A functional polymorphism in the monoamine oxidase A gene promoter. Hum Genet 103:273-279.
130. Seaman MI, Fischer JB, Chang F-M, Kidd KK. 1999. Tandem duplication polymorphism upstream of the dopamine D4 receptor gene (DRD4). Am J Med Genet 88:705-709.
131. Sen S, Nesse RM, Stoltenberg SF, Li S, Gleiberman L, Chakravarti A, Weder AB, Burmeister M. 2003. A BDNF coding variant is associated with the NEO personality inventory domain neuroticism, a risk factor for depression. Neuropsychopharmacology 28:397-401.
132. Shifman S, Bronstein M, Sternfeld M, Pisante-Shalom A, Lev-Lehman Efrat, Weizman A, Reznik I, Spivak B, Grisaru N, Karp L, Schiffer R, Kotler M, Strous RD, Swartz-Vanetik M, Knobler HY, Shinar E, Beckmann JS, Yakir B, Risch N, Zak NB, Darvasi A. 2002. A highly significant association between a COMT haplotype and schizophrenia. Am J Hum Genet 71:1296-1302.
133. 4 receptor is a susceptibility gene in attention deficit hyperactivity disorder. Mol Psychiatry 3:427-430.
134. Smiths KM, Smiths LJM, Schouten JSAG, Stelma FF, Nelemans P, Prins MH. 2004. Influence of SERTPR and Stin2 in the serotonin transporter gene on the effect of selective serotonin reuptake inhibitors in depression: a systematic review. Mol Psychiatry 9:433-441.
135. 9Gly polymorphisms. Am J Med Genet 81:24-28.
136. Spurlock G, Heils A, Holmans P, Williams J, D'Souza UM, Cardno A, Murphy KC, Jones L, Buckland PR, McGuffin P, Lesch KP, Owen MJ. 1998b. A family based association study of T102C polymorphism in 5HT2A and schizophrenia plus identification of new polymorphisms in the promoter. Mol Psychiatry 3:42-49.
137. Strous RD, Bark N, Parsia SS, Volavka J, Lachman HM. 1997. Analysis of a functional catechol-O-methyltransferase gene polymorphism in schizophrenia: evidence for association with aggressive and antisocial behaviour. Psychiatry Res 69:71-77.
138. Strous RD, Nolan KA, Lapidus R, Diaz L, Saito T, Lachman HM. 2003. Aggressive behavior in schizophrenia is associated with the low enzyme activity COMT polymorphism: a replication study. Am J Med Genet 1:29-43.
139. 1B polymorphisms with alcohol dependence in Taiwanese Han. Biol Psychiatry 51:896-901.
140. 4 (DRD4) gene with a refined phenotype of attention deficit hyperactivity disorder (ADHD): a family-based approach. Mol Psychiatry 3:38-41.
141. Tahir E, Yazgan Y, Cirakoglu B, Ozbay F, Waldman I, Asherson PJ. 2000. Association and linkage of DRD4 and DRD5 with attention deficit hyperactivity disorder (ADHD) in a sample of Turkish children. Mol Psychiatry 5:396-404.
142. Tsai S-J, Cheng C-Y, Yu YW-Y, Chen T-J, Hong C-J. 2003. Association study of a brain-derived neurotrophic factor genetic polymorphism and major depressive disorders, symptomatology, and antidepressant response. Am J Med Genet 123B:19-22.
143. Turecki G, Briere R, Dewar K, Antonetti T, Lesage AD, Seguin M, Chawky N, Vanier C, Alda M, Joober R, Benkelfat C, Rouleau GA. 1999. Prediction of level of serotonin 2A receptor binding by serotonin receptor 2A genetic variation in postmortem brain samples from subjects who did or did not commit suicide. Am J Psychiatry 156:1456-1458.
144. Ueno S. 2003. Genetic polymorphisms of serotonin and dopamine transporters in mental disorders. J Med Invest 50:25-31.
145. Vandenbergh DJ, Persico AM, Uhl GR. 1992. A human dopamine transporter cDNA predicts reduced glycosylation, displays a novel repetitive element and provides racially-dimorphic TaqI RFLPs. Brain Res Mol Brain Res 15:161-166.
146. Van Tol HHM, Wu CM, Guan H-C, Ohara K, Bunzow JR, Civelli O, Kennedy J, Seeman P, Niznik HB, Jovanoic V. 1992. Multiple dopamine D4 receptor variants in the human population. Nature 358:149-152.
147. Waldman ID, Rowe DC, Abramowitz A, Kozel ST, Mohr JH, Sherman SL, Cleveland HH, Sanders ML, Gard JMC, Stever C. 1998. Association and linkage of the dopamine transporter gene and attention-deficit hyperactivity disorder in children: heterogeneity owing to diagnostic subytpe and severity. Am J Hum Genet 63:1767-1776.
148. Wei J, Ramchand CN, Hemmings GP. 1997a. Possible control of dopamine beta-hydroxylase via a codominant mechanism associated with the polymorphic (GT)n repeat at its gene locus in healthy individuals. Hum Genet 99:52-55.
149. Wei J, Xu H-M, Ramchand CN, Hemmings GP. 1997b. Is the polymorphic microsatellite repeat of the dopamine β-hydroxylase gene associated with biochemical variability of the catecholamine pathway in schizophrenia? Biol Psychiatry 41:762-767.
150. 108/158Met genotype predicts working memory response to antipsychotic medications. Biol Psychiatry 56:677-682.
151. Wickens M, Bernstein DS, Kimble J, Parker R. 2002. A PUF family portrait: 3′UTR regulation as a way of life. Trends Genet 18:150-157.
152. Willeit M, Stastny J, Pirker W, Praschak-Rieder N, Neumeister A, Asenbaum S, Tauscher J, Fuchs K, Sieghart W, Hornik K, Aschauer HN, Brucke T, Kasper S. 2001. No evidence for in vivo regulation of midbrain serotonin transporter availability by serotonin transporter promoter gene polymorphism. Biol Psychiatry 50:8-12.
153. Williams J, Spurlock G, McGuffin P, Mallet J, Nothen MM, Gill M, Aschauer H, Nylander PO, Macciardi F, Owen MJ. 1996. Association between schizophrenia and T102C polymorphism of the 5-hydroxytryptamine type 2a-receptor gene. Lancet 347:1294-1296.
154. 3 receptor gene and schizophrenia. Mol Psychiatry 3:141-149.
155. Wong AHC, Buckle CE, Van Tol HHM. 2000. Polymorphisms in dopamine receptors: what do they tell us? Eur J Pharm 410:183-203.
156. 4 receptor gene in schizophrenia. Schizophrenia Res 65:9-14.
157. Zabetian C, Anderson GM, Buxbaum SG, Elston RC, Ichinose H, Nagatsu T, Kin K-S, Kim C-H, Malison RT, Gelernter J, Cubells JF. 2001. A quantitative-trait analysis of human plasma-dopamine β-hydroxylase activity: evidence for a major functional polymorphism at the DBH locus. Am J Hum Genet 68:515-522.
158. Zhu Q-S, Grimsby J, Chen K, Shih JC. 1992. Promoter organisation and activity of human monoamine oxidase (MAO) A and B genes. J Neurosci 12:4437-4446.
159. Zhu Q-S, Shih JC. 1997. An extensive repeat structure downregulates human monoamine oxidase A promoter activity independent of an initiator-like sequence. J Neurochem 69:1368-1373.
160. Zhu G, Lipsky RH, Xu K, Ali S, Hyde T, Kleinman J, Akhtar LA, Mash DC, Goldman D. 2004. Differential expression of human COMT alleles in brain and lymphoblasts detected by RT-coupled 5′nuclease assay. Psychopharmacol (Berl)177:178-184.