Polygenic inheritance and micro/minisatellites

Molecular Psychiatry

Volumn 3, Issue 1, 1998, Pages 21-31

  Comings, D E ^a  

^a CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

Author keywords

Behavior; Evolution; Microsatellites; Minisatellites; Polymorphisms; Psychiatric genetics; Z DNA

Indexed keywords

DNA MINISATELLITE; MICROSATELLITE DNA; NUCLEAR PROTEIN;

ALLELE; CONTROLLED STUDY; DNA CONFORMATION; GENE EXPRESSION; GENE FUNCTION; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MENTAL DISEASE; MOLECULAR GENETICS; MULTIFACTORIAL INHERITANCE; MUTATION RATE; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL; PROTEIN DNA BINDING; QUANTITATIVE TRAIT; REVIEW; TRANSCRIPTION REGULATION; TRINUCLEOTIDE REPEAT;

EID: 0031963478     PISSN: 13594184     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.mp.4000289     Document Type: Review

References (104)

1. Risch N, Botstein D. A manic depressive history. Nature Genet 1996; 12: 351-353.
2. Sarkar G, Kapelner S, Grandy DK, Marchionni M, Civelli O, Sobell J, Heston L, Sommer SS. Direct sequencing of the dopamine D2 receptor (DRD2) in schizophrenics reveals three polymorphisms but no structural change in the receptor. Genomics 1991; 11: 8-14.
3. Liu Q, Sobell JL, Heston LL, Summer SS. Screening the dopamine D1 receptor gene in 131 schizophrenics and eight alcoholics: identification of polymorphisms but lack of functionally significant sequence changes. Am J Med Gen (Neuropsych Genet) 1995; 60: 165-171.
4. Sobell JL, Heston LL, Sommer SS. Delineation of genetic predisposition to multifactorial disease: a general approach on the threshold of feasibility. Genomics 1991; 12: 1-6.
5. Grompe M. The rapid detection of unknown mutations in nucleic acids. Nature Genet 1993; 5: 111-117.
6. Blum K, Noble EP, Sheridan PJ, Montgomery A, Ritchie T, Jadadeeswaran P, Nogami H, Briggs AH, Cohn JB. Allelic association of human dopamine D2 receptor gene in alcoholism. J Am Med Assn 1990; 263: 2055-2059.
7. LeMoal M, Simon H. Mesocorticolimbic dopaminergic network: functional and regulatory roles. Physiol Rev 1991; 71: 155-234.
8. Comings DE, Comings BG, Muhleman D, Dietz G, Shahbahrami B, Tast D, Knell E, Kocsis P, Baumgarten R, Kovacs BW, Levy DL, Smith M, Kane JM, Lieberman JA, Klein DN, MacMurray J, Tosk J, Sverd J, Gysin R, Flanagan S. The dopamine D2 receptor locus as a modifying gene in neuropsychiatric disorders. J Am Med Assn 1991; 266: 1793-1800.
9. Blum K, Wood RC, Sheridan PJ, Chen T, Comings DE. Dopamine D2 receptor gene variants: association and linkage studies in impulsive, addictive and compulsive disorders. Pharmacogenetics 1995; 5: 121-141.
10. Blum K, Cull JG, Braverman ER, Comings DE. Reward Deficiency Syndrome. American Scientist 1996; 84: 132-145.
11. Wright JM. Mutation at VNTRs: are minisatellites the evolutionary progeny of microsatellites. Genome 1994; 37: 345-346.
12. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996; 273: 1516-1517.
13. Falk CT, Rubinstein P. Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations. Ann Hum Genet 1987; 51: 227-233.
14. Comings DE. The haplotype relative risk technique lacks power in polygenic inheritance. 1995 World Congress Psychiatric Genetics 1995; 5: 103.
15. Comings DE. Candidate genes and association studies in psychiatry. (Letter to the editor). Am J Med Gen (Neuropsych Genet) 1994; 54: 324.
16. Jeffreys AJ, Royle NJ, Wilson V, Wong Z. Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNA. Nature 1987; 332: 278-281.
17. Wolff RK, Plaetke R, Jeffreys AJ, White R. Unequal crossingover between homologous chromosomes is not the major mechanism involved in the generation of new alleles at VNTR loci. Genomics 1989; 5: 382-384.
18. Comings DE, Wu H, Chiu C, Ring RH, Dietz C, Muhleman D. Polygenic inheritance of Tourette syndrome, stuttering, ADHD, conduct and oppositional defiant disorder: the additive and subtractive effect of the three dopaminergic genes - DRD2, DβH and DAT1. Am J Med Gen (Neuropsych Genet) 1996; 67: 264-288.
19. Comings DE, Wi J, Chiu C, Muhleman D, Sverd J. Studies of c-Harvey-Ras gene in psychiatric disorders. Psychiatry Res 1996; 63: 25-32.
20. Comings DE, MacMurray JP, Cade R, Muhleman D, Peters WR. Genetic variants of the human obesity gene: association with psychiatric symptoms and body mass index in young women, and interaction with the dopamine D2 receptor gene. Mol Psychiatry 1996; 1: 325-335.
21. Johnson JP, Muhleman D, MacMurray J, Gade R, Verde R, Ask M, Kelley J, Comings DE. Association between the cannabinoid receptor gene (CNR1), and the P300 event-related potential. Mol Psychiatry 1997; 2 169-171.
22. Comings DE, Muhleman D, Gade R, Johnson P, Verde R, Saucier G, MacMurray J. Cannabinoid receptor gene (CNR1): association with IV drug use. Mol Psychiatry 1997; 2 161-168.
23. Gade R, Muhleman D, Blake H, MacMurray J, Johnson P, Verde R, Saucier G, McGue M, Lykken D, Comings DE. Correlation of length of VNTR alleles are the X-linked MAOA gene and phenotypic effect in Tourette syndrome and drug abuse. Mol Psychiatry 1997; (submitted).
24. Cook EH, Stein MA, Krasowski MD, Cox NJ, Olkon DM, Kieffer JE, Leventhal BL. Association of attention-deficit disorder and the dopamine transporter gene. Am J Hum Genet 1995; 56: 993-998.
25. Gelernter J, Krazler HR, Satel SL, Rao PA. Genetic association between dopamine transporter protein alleles and cocaine-induced paranoia. Neuropsychopharmacology 1994; 11: 195-200.
26. Benjamin J, Li L, Patterson C, Greenberg BD, Murphy DL, Hamer DH. Population and familial association between the D4 dopamine receptor gene and measures of novelty seeking. Nature Genet 1996; 12: 81-84.
27. Ebstein RP, Novick O, Umansky R, Priel B, Osher Y, Blaine D, Bennett ER, Nemanov L, Katz M, Belmaker RH. Dopamine D4 receptor (D4DR) exon III polymorphism associated with the human personality trait of novelty seeking. Nature Genet 1996; 12: 78-80.
28. Grice DE, Leckman JF, Pauls DL, Kurlan R, Kidd KK, Pakstis AJ, Chang FM, Buxbaum JD, Cohen DJ, Gelernter J. Linkage disequilibrium of an allele at the dopamine D4 receptor locus with Tourette's syndrome by TDT. Am J Hum Genet 1996; 59: 644-652.
29. Lahoste GJ, Swanson JM, Wigal SB, Glabe C, Wigal T, King N, Kennedy JL. Dopamine D4 receptor gene polymorphism is associated with attention deficit hyperactivity disorder. Mol Psychiatry 1996; 1: 121-124.
30. Hérault J, Perrot A, Barthélémy C, Büchler M, Cherpi C, Leboyer M, Sauvage D, Lelord G, Mallet J, Müh J-P. Possible association of C-Harvey-Ras-1 (HRAS-1) marker with autism. Psychiatry Res 1993; 46: 261-267.
31. Eggers B, Kurth MC, Kurth JH. Allele frequencies of dopamine receptors DRD1 and DRD2 in Parkinson's disease populations. Am J Hum Genet 1995; 57: A162.
32. Thelu M-A, Zarski J-P, Froissart B, Rachail M, Seigneurin J-M. c-Ha-ras polymorphism in patients with hepatocellular carcinoma. Gastroenterol Clin Biol 1993; 17: 903-907.
33. Ogilvie AD, Battersby S, Bubb VJ, Fink G, Hamaar AJ, Goodwin GM, Smith CAD. Polymorphism in serotonin transporter gene associated with susceptibility to major depression. Lancet 1996; 347: 731-733.
34. Lesch K-P, Bengel D, Heils A, Sabol SZ, Greenberg BD, Petri S, Benjamin J, Muller CR, Hamer DH, Murphy DL. Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region. Science 1996; 274: 1527-1531.
35. Bennett ST, Lucassen AM, Grough SCL, Powell EE, Undlien DE, Pritchard LE, Merriman ME, Kawaguchi Y, Dronsfeld MJ, Pociot F, Nerup J, Bouzekri N, Cambon-Thomsen A, Ronning KS, Barnett AH, Bain SC, Todd JA. Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. Nature Genet 1955; 9: 284-292.
36. Kennedy GC, German MS, Rutter WJ. The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription. Nature Genet 1995; 9: 293-298.
37. Pugliese A, Zeller M, Fewrnandez A Jr, Zalcberg L, Bartlett RJ, Ricordi C, Pietropaolo M, Eisenbarth GS, Bennett ST, Patel DD. The insulin gene is transcribed in the human thymus and transcription levels correlate with allelic variation at the INV VNTR-IDDM2 susceptibility locus for type 1 diabetes. Nature Genet 1997; 15: 293-297.
38. Vafiadis P, Bennett ST, Todd JA, Nadeau J, Grabs R, Goodyer CG, Wickramasinghe S, Colle E, Polychronakos C. Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus. Nature Genet 1997; 15: 289-292.
39. Wei J, Ramchand CN, Hemmings GP. Possible control of dopamine β-hydroxylase via a codominant mechanism associated with polymorphic [GT]n repeat at this gene locus in healthy individuals. Hum Genet 1997; 99: 52-55.
40. Lichter JB, Barr CL, Kennedy JL, Van Tol HHM, Kidd KK, Livak KJ. A hypervariable segment in the human dopamine receptor (DRD4) gene. Hum Molec Genet 1993; 2: 767-773.
41. Krontiris TG, DiMartino NA, Colb M, Parkinson DR. Unique allelic restriction fragments of the human Ha-ras locus in leukocyte and tumor DNAs of cancer patients. Nature 1985; 313: 369-374.
42. Caskey CT, Pizzuti A, Fu YH, Fenwick RG Jr, Nelson DL. Triplet repeat mutations in human disease. Science 1992; 256: 784-789.
43. Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993; 72: 971-983.
44. Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Ducios F, Monticelii A, Zara F, Cañizares J, Koutnikoa H, Bidichandani SI, Gellera C, Brice A, Trouillas P, Michele GD, Filla A, Frutos RD, Palau F, Patel PI, DiDonato S, Mandel J-L, Cocozza S, Koenig M, Pandolfo M. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1995; 271: 1423-1427.
45. Li X-J, Li S-H, Sharp AH, Nucifora FC Jr, Schilling G, Lanahan A, Worley P, Snyder SH, Ross CA. A huntingtin-associated protein enriched in brain with implications for pathology of Huntington's disease. Nature 1995; 378: 398.
46. Burke JR, Enghild JJ, Martin ME, Jou YS, Myers RM, Roses AD, Vance JM, Strittmatter WJ. Huntington and DRPLA proteins selectively interact with the enzyme GAPDH. Nature Med 1996; 2: 347-350.
47. Choong CS, Kemppainen JA, Zhou A-X, Wilson EM. Reduced androngen receptor gene expression with first exon CAG repeat expansion. Molec Endocr 1996; 10: 1527-1535.
48. Pieretti M, Zhang F, Fu Y-H, Warren ST, Oostra BA, Caskey CT, Nelson DL. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 1901; 66: 817-822.
49. Wang YH, Amirhaeri S, Kang S, Wells RD, Griffith JD. Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene. Science 1994; 265: 669-671.
50. Wells RD. Molecular basis of genetic instability of triplet repeats. J Biol Chem 1996; 271: 2875-2878.
51. Levine M, Manley JL. Transcriptional repression of eukaryotic promoters. Cell 1989; 59: 405-408.
52. Cahill MA, Ernst WH, Janknecht R, Nordheim A. Regulatory squelching. FEBS Lett 1994; 344: 105-108.
53. Imagawa M, Ishikawa Y, Shimano H, Osada S, Nishihara T. CTG triplet repeat in mouse growth inhibitory factor/metallothionein III gene promoter represses the transcriptional activity of the heterologous promoters. J Biol Chem 1995; 270: 20898-20900.
54. Nadel Y, Weisman-Shomer P, Fry M. The fragile X syndrome single strand d(CGG)n nucleotide repeats readily fold back to form unimolecular hairpin structures. J Biol Chem 1995; 270: 28970-28977.
55. Ohshima K, Kang S, Larson JE, Wells RD. Cloning, characterization and properties of seven triplet repeat DNA sequences. J Biol Chem 1996; 271: 16773-16783.
56. Krontiris TG, Devlin B, Karp DD, Robert NJ, Risch N. An association between the risk of cancer and mutations in the Hras 1 minisatellite locus. New Eng J Med 1993; 329: 517-523.
57. Green M, Krontiris TG. Alleleic variations of reporter gene activation by the HRAS1 minisatellite. Genomics 1993; 17: 429-434.
58. Trepicchio WL, Krontiris TG. Members of the rel/NF-κB family of transcriptional regulatory factors bind the HRAS1 minisatellite DNA sequence. Nucleic Acids Res 1992; 21: 977-985.
59. Capon DJ, Chen EY, Levinson AD, Seehurg PH, Goeddel DV. Complete nucleotide sequences of the T24 human bladder carcinoma oncogene and its normal homologue. Nature 1983; 302: 33-37.
60. Cohen J, Walter M, Levinson A. A repetitive sequence element 3′ of the human c-Ha-ras1 gene has enhancer activity. J Cellular Physiol 1987; 5: 75-81.
61. Spandidos DA, Holmes L. Transcriptional enhancer activity in the variable tandem repeat DNA sequence downstream of the human Ha-ras-1 gene. FEBS Lett 1987; 218: 41-40.
62. Trepicchio WL, Krontiris TG. IGH minisatellite suppression of USF-binding-site-and Eμ-mediated transcriptional activation of the adenovirus major late promoter. Nucleic Acids Res 1993; 21: 977-985.
63. Hammond-Kosack MCU, Dobrinski B, Lurz R, Docherty K, Kilpatrick MW. The human insulin gene linked polymorphic region exhibits an altered DNA structure. Nucleic Acids Res 1992; 20: 231-236.
64. Hammond-Kosack MCU, Docherty K. A consensus repeat sequence from the human insulin gene linked polymorphic region adopts multiple quadriplex DNA structures. FEBS Lett 1992; 301: 79-82.
65. Yamazaki H, Nomoto S, Mishima Y, Kominami R. A 35-kDA protein binding to a cytosine-rich strand of hypervariable minisatellite DNA. J Biol Chem 1992; 267: 12311-12316.
66. Collick A, Dunn MG, Jeffreys AC. Minisatellite binding protein Msbp-1 is a sequence-specific single-stranded DNA-binding protein. Nucleic Acids Res 1991; 19: 6399-6404.
67. Wahls WP, Swenson G, Moore P. Two hypervariable minisatellite DNA binding proteins. Nucleic Acids Res 1991; 19: 3269-3274.
68. Ostareck-Lederer A, Ostareck DH, Standart N, Thiele BJ. Translation of 15-lipoxygenase mRNA is inhibited by a protein that binds to a repeated sequence in the 3′ untranslated region. EMBO J 1994; 13: 1470-1481.
69. Curtis D, Lehman R, Zamore PD. Translational regulation in development. Cell 1965; 81: 171-178.
70. Nordheim A, Rich A. The sequence (dC-dA)n.(dG-dT)n forms left-handed Z-DNA in negatively supercoiled plasmids. Proc Natl Acad Sci USA 1983; 80: 1821-1825.
71. Haniford DB, Pulleybank DE. Facile transition of poly[d(TG).d(CA)] into a left-handed helix in physiological conditions. Nature 1983; 302: 632-634.
72. Wang A, Quigley H-J, Kolpak GJ, Crawford FJ, van Boom JH, van der Marcl G, Rich A. Molecular structure of a left-handed double helical DNA fragment at atomic resolution. Nature 1979; 282: 680-682.
73. Hamada H, Kakunaga T. Potential Z-DNA sequences are highly dispersed in the human genome. Molec Cell Biol 1984; 4: 2610-2621.
74. Schroth GP, Chou P-J, Ho PS. Mapping Z-DNA in the human genome. J Biol Chem 1992; 267: 11846-11855.
75. Nordheim A, Rich A. Negatively supercoiled simian virus 40 DNA containing Z-DNA segments within transcriptional enhancer sequences. Nature 1983; 303: 674-679.
76. Rich A, Nordheim A, Wang AJ. The chemistry and biology of left-handed Z-DNA. Annu Rev Biochem 1984; 53: 791-856.
77. Hamada H, Petrino MG, Kakunaga T. A novel repeated element with Z-DNA-forming potential is widely found in evolutionarily diverse eukaryotic genomes. Proc Natl Acad Sci USA 1982; 79: 6465-6469.
78. Banerjee R, Carothers AM, Grunberger D. Inhibition of the herpes simplex virus thymidine kinase gene transfection in Ltk-cells by potential Z-DNA forming polymers. Nucleic Acids Res 1985; 13: 5111-5126.
79. Banerjee R, Grunberger D. Enhanced expression of the bacterial chloramphenicol acetyltransferase gene in mouse cells cotransfected with synthetic polynucleotides able to form Z-DNA. Proc Natl Acad Sci USA 1986; 83: 4988-4992.
80. Wolfl S, Martinez C, Rich A, Majzoub JA. Transcription of the human corticotropin-releasing hormone gene in NPLC cells is correlated with Z-DNA formation. Proc Natl Acad Sci USA 1996; 93: 3664-3668.
81. Peck LJ, Wang JC. Transcriptional block caused by negative supercoiling induced structural change in an alternating CG sequence. Cell 1985; 40: 129-137.
82. Butzow JJ, Shin YA, Eichhorn GL. Effect of template conversion from the B to the Z conformation on RNA polymerase activity. Biochemistry 1984; 23: 4837-4843.
83. Arndt-Jovin DJ, Udvardy A, Garner MM, Ritter S, Jovin TM. Z-DNA binding and inhibition by GTP of Drosophilia topoisomerase II. Biochemistry 1993; 32: 4862-4872.
84. Herbert A, Lowenhaupt K, Spitzner J, Rich A. Chicken double-stranded RNA adenosine deaminase has apparent specificity for Z-DNA. Proc Natl Acad Sci USA 1995; 92: 7550-7554.
85. Nordheim A, Tesser P, Azorin F, Kwon YH, Möler A, Rich A. Isolation of Drosophilia proteins that bind selectively to left-handed Z-DNA. Proc Natl Acad Sci USA 1982; 79: 7729-7733.
86. Wittig B, Wölffl S, Dorbic T, Vahrson W, Rich A. Transcription of human c-myc in permeabilized nuclei is associated with formation of Z-DNA in three discrete regions of the gene. EMBO J 1992; 12: 4653-4663.
87. Herbert A. RNA editing, introns and evolution. Trends Genet 1996; 12: 6-9.
88. Herbert A, Rich A. The biology of left-handed Z-DNA. J Biol Chem 1996; 271: 11595-11598.
89. Epplen J, Kyas A, Mäueler W. Genomic simple repetitive DNAs are targets for differential binding of nuclear proteins. FEBS Lett 1996; 389: 92-95.
90. Naylor LH, Clark EM. d(TG)n.d(CA)n sequences upstream of the rat prolactin gene form Z-DNA and inhibit gene transcription. Nucl Acids Res 1990; 18 1595-1601.
91. 2 gene. Nucl Acids Res 1994; 22: 5093-5098.
92. Weeks DE, Lathrop M. Polygenic disease: methods for mapping complex disease traits. Trends Genet 1995; 11: 513-519.
93. Comings DE. Polygenetic inheritance of psychatric disorders. In: Blum K, Noble EP, Sparks RS, Sheridan PJ (eds). Handbook of Psychiatric Genetics. CRC Press: Boca Raton, FL, 1996, pp 235-260.
94. Weeks DE, Lange K. The affected-pedigree-member method: power to detect linkage. Am J Hum Genet 1988; 42: 315-326.
95. Greenberg DA, Hodge SE, Vieland VJ, Spence MA. Affecteds-only linkage methods are not a panacea. Am J Hum Genet 1996; 58: 892-895.
96. Carey G, Williamson J. Linkage analysis of quantitative traits: increased power by using selected samples. Am J Hum Genetics 1991; 49: 786-796.
97. Owen MJ, McGuffin P. Association and linkage: complementary strategies for complex disorders. J Med Genet 1993; 30: 638-639.
98. Comings DE, Gade R, Wu S, Chiu C, Dietz G, Muhleman D, Saucier G, Ferry L, Burchete R, Johnson P, Verde R, MacMurray JP. Studies of the potential role of the dopamine D1 receptor gene in addictive behaviors. Mol Psychiatry 1997; 2: 44-56.
99. Comings DE, MacMurray JM. Molecular heterosis. 1977 (submitted).
100. Wills C. The Runaway Brain. Basic Books: New York, NY, 1993, pp 1-358.
101. Arcot SS, Wang Z, Weber JL, Deininger PL, Batzer MA. Alu repeats: a source for the genesis of primate microsatellites. Genomics 1995; 29: 136-144.
102. Hall AV, Antoniou H, Wang Y, Cheung AH, Arbus AM, Olson SL, Lu WC, Kau CL, Marsden PA. Structural organization of the human neuronal nitric oxide synthase gene (NOS). J Biol Chem 1994; 269: 33082-33090.
103. Nelson RJ, Demas GE, Huang PL, Fishman MC, Dawson VL, Dawson TM, Snyder SH. Behavioral abnormalities in male mice lacking neuronal nitric oxide synthase. Nature 1995; 378: 383-386.
104. Comings DE, Wu S, Gonzalez N, Muhleman D, Gade R, Blake H, MacMurray JP, McGue M, Lykken D. Association of the normal FRAXA and HTR2A genes with performance IQ in the general population. 1997 (submitted).