Mutational analysis of the human MAOA gene

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 67, Issue 1, 1996, Pages 92-97

  Tivol, Elizabeth A ^a,b   Shalish, Christo ^a,b   Schuback, Deborah E ^a,b   Hsu, Yun Pung ^c   Breakefield, Xandra O ^a,b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

Human; MAO; Polymorphisms

Indexed keywords

GYMNOMYZA SAMOENSIS;

AMINE OXIDASE (FLAVIN CONTAINING);

AGGRESSIVENESS; ARTICLE; BEHAVIOR DISORDER; DNA POLYMORPHISM; ENZYME ACTIVITY; GENE STRUCTURE; GENETIC ANALYSIS; HUMAN; MALE; MUTATION; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

BASE SEQUENCE; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FIBROBLASTS; HUMANS; LESCH-NYHAN SYNDROME; MALE; MOLECULAR SEQUENCE DATA; MONOAMINE OXIDASE; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SKIN;

EID: 0029944750     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960216)67:1<92::AID-AJMG16>3.0.CO;2-K     Document Type: Article

References (47)

1. Bach AW, Lan NC, Johnson DL, Abell CW, Bembenek ME, Kwan SW, Seeburg PH, (1988): cDNA cloning of human liver monoamine oxidase A and B: molecular basis of differences in enzymatic properties. Proc Natl Acad Sci USA 85:4934-4938.
2. Breakefield XO, Giller EL Jr, Nurnberger JI, Castiglione CM, Buchsbaum MS, Gershon ES (1980): Monoamine oxidase type A in fibroblasts from patients with bipolar depressive illness. Psychiatry Res 2:307-314.
3. Breakefield XO, Chen ZY, Tivol E, Shalish C, Craig I (1994): Molecular genetics and inheritance of human monoamine oxidases A and B. In Lieberman A, Olanow CW, Youdim MBH, Tipton K (eds): "Monoamine Oxidase Inhibitors in Neurological Diseases." New York: Marcel Dekker, Inc., pp 95-112.
4. Brunner HG, Nelen MR, van Zandvoort P, Abeling NGGM, van Gennip AH, Wolters EC, Kulpcr MA (1993a): X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism. Am J Hum Genet 52:1032-1039.
5. Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA (1993b): Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science 262:578-580.
6. Chen Z-Y, Hotamisligil G, Huang J-K, Wen L, Ezzeddine D, AydinMuderrisoglu N, Powell JF, (1991): Structure of the human gene for monoamine oxidase type A. Nucleic Acids Res 19:4537-4541.
7. Chen Z-Y, Hendriks RW, Jobling MA, Powell JF, Sims KB, Breakefield XO, Craig IW (1992a): Isolation and characterization of a gene implicated in Norrie disease. Nat Genet 1:204-208.
8. Chen Z-Y, Powell JF, Hsu Y-P, Breakefield XO, Craig IW (1992b): Organization of the human monoamine oxidase genes and long-range physical mapping around them. Genomics 14:75-82.
9. Chirgwin JM, Przybyla AE, MacDonald RJ, Rutter WJ (1979): Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry 18:5294-5299.
10. Cohen G (1987): Monoamine oxidase, hydrogen peroxide, and Parkinson's disease. Adv Neurol 45:119-125.
11. Collins FA, Murphy DL, Reiss AL, Sims KB, Lewis JG, Freund L, Karoum F, (1992): Clinical, biochemical and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion of Xp11.3 including the Norrie disease locus and monoamine oxidase (MAO-A and MAO-B) genes. Am J Med Genet 42:127-134.
12. Costa MRC, Edelstein SB, Castiglione CM, Chao H, Breakefield XO (1980): Properties of monoamine oxidase in control and Lesch-Nyhan fibroblasts. Biochem Genet 18:577-590.
13. Crabb DW, Edenberg HJ, Bosron WF, Li T-K (1989): Genotypes for aldehyde dehydrogenase deficiency and alcohol sensitivity. The inactive ALDH2(2) allele is dominant. J Clin Invest 83:314-316.
14. Dean M (1995): Resolving DNA mutations. Nat Genet 9:103-104.
15. Deguchi T, Mashimo M, Suzuki T (1990): Correlation between acetylator phenotypes and genotypes of polymorphic acrylamide N-acetyltransferase in human liver. J Biol Chem 265. 12757-12760.
16. 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.
17. Donnai D, Mountford RC, Read AP (1988): Norrie disease resulting from a gene deletion: clinical features and DNA studies. J Med Genet 25:73-78.
18. Donnelly EF, Murphy DL, Waldman IN, Buchsbaum MS, Coursey RD (1979): Psychological characteristics corresponding to low versus high platelet monoamine oxidase activity. Biol Psychiatry 14:375-383.
19. Edelstein SB, Castiglione CM, Breakefield XO (1978): Monoamine oxidase activity in normal and Lesch-Nyhan fibroblasts. J Neurochem 31:1247-1254.
20. Gal A, Wieringa B, Smeets DF, Bleeker-Wagemakers LM, Ropers HH (1986): Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease. Cytogenet Cell Genet 40:219-224.
21. Gibbs RA, Nguyen PN, Caskey CT (1989): Detection of single DNA base differences by competitive oligonucleotide priming. Nucleic Acids Res 17:2437-2448.
22. Girmen AS, Baenziger J, Hotamisligil GS, Konradi C, Sullivan JL, Breakefield XO (1992): Relationship between platelet monoamine oxidase B activity and alleles at the MAOB locus. J Neurochem 59:2063-2066.
23. Grimsby J, Chen K, Wang L-J, Lan NC, Shih JC (1991): Human monoamine oxidase A and B genes exhibit identical exon-intron organization. Proc Natl Acad Sci USA 88:3637-3641.
24. Hotamisligil GS, Breakefield XO (1991): Human monoamine oxidase A gene determines levels of enzyme activity. Am J Hum Genet 49:383-392.
25. Hotamisligil GS, Girmen AS, Fink SJ, Tivol E, Shalish C, Trofatter J, Baenziger J, Diamond S, Markham C, Sullivan J, (1994): Hereditary variations in monoamine oxidase as a risk factor for Parkinson's disease. Mov Disord 9:305-310.
26. Hsu Y-P, Weyler W, Chen S, Sims KB, Rinehart WB, Utterback MC, Powell JF, (1988): Structural features of human monoamine oxidase A elucidated from cDNA and peptide sequences. J Neurochem 51:1321-1324.
27. Hsu Y-PP, Powell JF, Sims KB, Breakefield XO (1989): Molecular genetics of the monoamine oxidases. J Neurochem 53:12-18.
28. Kurth JH, Kurth MC, Poduslo SE, Schwankhaus JD (1993): Association of a monoamine oxidase B allele with Parkinson's disease. Ann Neurol 33:368-372.
29. Kwan SW, Bergeron JM, Abell CW (1992): Molecular properties of monoamine oxidases A and B. Psychopharmacology (Berlin) 106: 1-5.
30. Lan NC, Heinzmann C, Gal A, Klisak I, Orth U, Lai E, Grimsby J, (1989): Human monoamine oxidase A and B genes map to Xp11.23 and are deleted in a patient with Norrie disease. Genomics 4:552-559.
31. Lavine MR, Mendelowitz A, Kronig MH (1993): Spontaneous hypertensive reactions with monoamine oxidase inhibitors. Biol Psychiatry 34:146-151.
32. Mullis KB, Faloona FA (1987): Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction. Methods Enzymol 155:335-350.
33. Murphy DL (1977): The behavioral toxicity of monoamine oxidase-inhibiting antidepressants. Adv Pharmacol Chemother 14:71-105.
34. Murphy DL, Wright C, Buchsbaum M, Nichols A, Costa JL, Wyatt RJ (1976): Platelet and plasma amine oxidase activity in 680 normals: sex and age differences and stability over time. Biochem Med 16: 254-265.
35. Nagatsu T (1973): Biochemistry of catecholamines. The biochemical method. In: "Metabolism of Catecholamines." Baltimore: University Park Press, pp 89-133.
36. Orita M, Suzuki Y, Sekyia T, Hayashi K (1989): Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874-879.
37. Ozelius L, Hsu Y-P, Bruns G, Powell JF, Chen S, Weyler W, Utterback M, Zucker D, Haines J, Trofatter JA, Conneally PM, Gusella JF, Breakefield XO (1988): Human monoamine oxidase gene (MAOA): chromosome position (Xp21-p11) and DNA polymorphism. Genomics 3:53-58.
38. Rice J, McGuffin P, Goldin LR, Shaskan EF, Gershon ES (1984): Platelet monoamine oxidase (MAO) activity: evidence for a single major locus. Am J Hum Genet 36:36-43.
39. Riederer P, Konradi C, Hebenstreit G, Youdim MB (1989): Neurochemical perspectives to the function of monoamine oxidase. Acta Neurol Scand [Suppl] 126:41-45.
40. Shih JC (1991): Molecular basis of human MAO A and B. Neuropsychopharmacology 4:1-7.
41. Sims KB, de la Chapelle A, Norio R, Sankila EM, Hsu Y-PP, Rinehart WB, Corey TJ, (1989): Monoamine oxidase deficiency in males with an X chromosome deletion. Neuron 2:1069-1076.
42. Sims KB, Lebo RV, Benson G, Shalish C, Schuback D, Chen ZY, Bruns G, Craig TW, Golhus MS, Breakefield XO (1992): The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3. Hum Mol Genet 1:83-89.
43. Smith CA, Gough AC, Leigh PN, Summers BA, Harding AR, Maraganore DM, Sturman SG, (1992): Debrisoquine hydroxylase gene polymorphism and susceptibility to Parkinson's disease. Lancet 339:1375-1377.
44. Warburg M (1974): Norrie's disease and falciform detachment of the retina. In Goldberg M (ed): "Genetic and Metabolic Aspects of Eye Disease." Boston: Little, Brown and Co., p 441.
45. Weyler W, Hsu Y-P, Breakefield XO (1990): Biochemistry and genetics of monoamine oxidase. J Pharmacol Ther 47:391-417.
46. Zhu D, Antonarakis SE, Schmeckpeper BJ, Diergaarde PJ, Greb AE, Maumenee IH (1989): Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease. Am J Hum Genet 33:485-488.
47. Zhu Q-S, Grimsby J, Chen K, Shih JC (1992): Promoter organization and activity of human monoamine oxidase (MAO) A and B genes. J Neurosci 12:4437-4446.