Functional allelic heterogeneity and pleiotropy of a repeat polymorphism in tyrosine hydroxylase: Prediction of catecholamines and response to stress in twins

Physiological Genomics

Volumn 19, Issue , 2005, Pages 277-291

  Zhang, Lian ^a   Rao, Fangwen ^a   Wessel, Jennifer ^b   Kennedy, Brian P ^a   Rana, Brinda K ^b   Taupenot, Laurent ^a   Lillie, Elizabeth O ^a   Cockburn, Myles ^d   Schork, Nicholas J ^b   Ziegler, Michael G ^a   O'Connor, Daniel T ^a,b,c  

^a UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c VA SAN DIEGO HEALTHCARE SYSTEM   (United States)

^d UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

Blood pressure; Cold pressor test; Heart rate; Hypertension; Microsatellite

Indexed keywords

CATECHOLAMINE; NORADRENALIN; TYROSINE 3 MONOOXYGENASE;

ALLELISM; ARTICLE; FEMALE; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; HEREDITY; HUMAN; HYPERTENSION; MALE; NORADRENALIN RELEASE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; STRESS; TWINS;

ADENINE; ADOLESCENT; ADULT; AGE FACTORS; AGED; AGED, 80 AND OVER; ALLELES; AUTONOMIC NERVOUS SYSTEM; CATECHOLAMINES; CYTOSINE; DIPLOIDY; FEMALE; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERTENSION; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; PREDICTIVE VALUE OF TESTS; REPETITIVE SEQUENCES, NUCLEIC ACID; SEX FACTORS; STRESS; THYMINE; TWIN STUDIES; TWINS, DIZYGOTIC; TWINS, MONOZYGOTIC; TYROSINE 3-MONOOXYGENASE;

EID: 19944389519     PISSN: 15312267     EISSN: None     Source Type: Journal    
DOI: 10.1152/physiolgenomics.00151.2004     Document Type: Article

References (57)

1. Albanese V, Biguet NF, Kiefer H, Bayard E, Mallet J, and Meloni R. Quantitative effects on gene silencing by allelic variation at a tetranucleotide microsatellite. Hum Mol Genet 10: 1785-1792, 2001.
2. Almasy L and Blangero J. Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet 62: 1198-1211, 1998.
3. Barbeau P, Litaker MS, Jackson RW, and Treiber FA. A tyrosine hydroxylase microsatellite and hemodynamic response to stress in a multi-ethnic sample of youth. Ethn Dis 13: 186-192, 2003.
4. Baruchin A, Weisberg EP, Miner LL, Ennis D, Nisenbaum LK, Naylor E, Stricker EM, Zigmond MJ, and Kaplan BB. Effects of cold exposure on rat adrenal tyrosine hydroxylase: an analysis of RNA, protein, enzyme activity, and cofactor levels. J Neurochem 1769-1775, 1990.
5. Boomsma D, Busjahn A, and Peltonen L. Classical twin studies and beyond. Nat Rev Genet 3: 872-882, 2002.
6. Brown MR, Rivier C, and Koob G. Neurobiology and Neuroendocrinology of Stress. New York: Dekker, 1991.
7. Buetow KH, Edmonson M, MacDonald R, Clifford R, Yip P, Kelley J, Little DP, Strausberg R, Koester H, Cantor CR, and Braun A. High-throughput development and characterization of a genomewide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Proc Natl Acad Sci USA 98: 581-584, 2001.
8. Carson RP and Robertson D. Genetic manipulation of noradrenergic neurons. J Pharmacol Exp Ther 301: 410-417, 2002.
9. Chitbangonsyn SW, Mahboubi P, Walker D, Rana BK, Diggle KL, Timberlake DS, Parmer RJ, and O'Connor DT. Physical mapping of autonomic/sympathetic candidate genetic loci for hypertension in the human genome: a somatic cell radiation hybrid library approach. J Hum Hypertens 17: 319-324, 2003.
10. Cockburn M, Hamilton A, Zadnick J, Cozen W, and Mack TM. The occurrence of chronic disease and other conditions in a large population-based cohort of native Californian twins. Twin Res 5: 460-467, 2002.
11. Do KA, Broom BM, Kuhnert P, Duffy DL, Todorov AA, Treloar SA, and Martin NG. Genetic analysis of the age at menopause by using estimating equations and Bayesian random effects models. Stat Med 19: 1217-1235, 2000.
12. Ewing B and Green P. Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Res 8: 186-194, 1998.
13. Ewing B, Hillier L, Wendl MC, and Green P. Base-calling of automated sequencer traces using phred. I. Accuracy assessment. Genome Res 8: 175-185, 1998.
14. Excoffier L, Novembre J, and Schneider S. SIMCOAL: a general coalescent program for the simulation of molecular data in interconnected populations with arbitrary demography. J Hered 91: 506-509, 2000.
15. Falconer DS and Mackay TFC. Heritability. In: Introduction to Quantitative Genetics. London: Longman, 1996, p. 160-183.
16. Feinleib M, Garrison RJ, Fabsitz R, Christian JC, Hrubec Z, Borhani NO, Kannel WB, Rosenman R, Schwartz JT, and Wagner JO. The NHLBI twin study of cardiovascular disease risk factors: methodology and summary of results. Am J Epidemiol 106: 284-285, 1977.
17. Flatmark T. Catecholamine biosynthesis and physiological regulation in neuroendocrine cells. Acta Physiol Scand 168: 1-17, 2000.
18. Flatmark T and Stevens RC. Structural insight into the aromatic amino acid hydroxylases and their disease-related mutant forms. Chem Rev 99: 2137-2160, 1999.
19. Gonzalez-Trapaga JL, Nelesen RA, Dimsdale JE, Mills PJ, Kennedy B, Parmer RJ, and Ziegler MG. Plasma epinephrine levels in hypertension and across gender and ethnicity. Life Sci 66: 2383-2392, 2000.
20. Goodwill ICE, Sabatier C, and Stevens RC. Crystal structure of tyrosine hydroxylase with bound cofactor analogue and iron at 2.3 A resolution: self-hydroxylation of Phe300 and the pterin-binding site. Biochemistry 37: 13437-13445, 1998.
21. Gordon D, Abajian C, and Green P. Consed: a graphical tool for sequence finishing. Genome Res 8: 195-202, 1998.
22. Grima B, Lamouroux A, Boni C, Julien JF, Javoy-Agid F, and Mallet J. A single human gene encoding multiple tyrosine hydroxylases with different predicted functional characteristics. Nature 326: 707-711, 1987.
23. Herrmann V, Buscher R, Go MM, Ring KM, Hofer JK, Kailasam MT, O'Connor DT, Parmer RJ, and Insel PA. Beta2-adrenergic receptor polymorphisms at codon 16, cardiovascular phenotypes and essential hypertension in whites and African Americans. Am J Hypertens 13: 1021-1026, 2000.
24. Jindra A, Jachymova M, Horky K, Peleska J, Umnerova V, Bultas J, and Savlikova J. Association analysis of two tyrosine hydroxylase gene polymorphisms in normotensive offspring from hypertensive families. Blood Press 9: 250-254, 2000.
25. Kasagi F, Akahoshi M, and Shimaoka K. Relation between cold pressor test and development of hypertension based on 28-year follow-up. Hypertension 25: 71-76, 1995.
26. Kennedy B and Ziegler MG. A more sensitive and specific radioenzymatic assay for catecholamines. Life Sci 47: 2143-2153, 1990.
27. Kurumaji A, Kuroda T, Yamada K, Yoshikawa T, and Toru M. An association of the polymorphic repeat of tetranucleotide (TCAT) in the first intron of the human tyrosine hydroxylase gene with schizophrenia in a Japanese sample. J Neural Transm 108: 489-495, 2001.
28. Lander ES et al.; International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 409: 860-921, 2001.
29. Lim LC, Gurling H, Curtis D, Brynjolfsson J, Petursson H, and Gill M. Linkage between tyrosine hydroxylase gene and affective disorder cannot be excluded in two of six pedigrees. Am J Med Genet 48: 223-228, 1993.
30. Meloni R, Albanese V, Ravassard P, Treilhou F, and Mallet J. 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, 1998.
31. Meloni R, Laurent C, Campion D, Ben Hadjali B, Thibaut F, Dollfus S, Petit M, Samolyk D, Martinez M, and Poirier MF. A rare allele of a microsatellite located in the tyrosine hydroxylase gene found in schizophrenic patients. C K Acad Sci III 318: 803-809, 1995.
32. Meloni R, Leboyer M, Bellivier F, Barbe B, Samolyk D, Allilaire JF, and Mallet J. Association of manic-depressive illness with tyrosine hydroxylase microsatellite marker. Lancet 345: 932, 1995.
33. Menkes MS, Matthews KA, Krantz DS, Lundberg U, Mead LA, Qaqish B, Liang KY, Thomas CB, and Pearson TA. Cardiovascular reactivity to the cold pressor test as a predictor of hypertension. Hypertension 14: 524-530, 1989.
34. Nagatsu T, Levitt M, and Udenfriend S. Tyrosine hydroxylase. The initial step in norepinephrine biosynthesis. J Biol Chem 239: 2910-2917, 1964.
35. Nickerson DA, Tobe VO, and Taylor SL. PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res 25: 2745-2751, 1997.
36. O'Connor DT, Insel PA, Ziegler MG, Hook VY, Smith DW, Hamilton BA, Taylor PW, and Parmer RJ. Heredity and the autonomie nervous system in human hypertension. Curr Hypertens Rep 2: 16-22, 2000.
37. O'Connor DT, Insel PA, Ziegler MG, Hook VY, Smith DW, Hamilton BA, Taylor PW, and Parmer RJ. Heredity and the autonomie nervous system in human hypertension. Curr Hypertens Rep 2: 16-22, 2000.
38. O'Connor DT, Kailasam MT, Kennedy BP, Ziegler MG, Yanaihara N, and Parmer RJ. Early decline in the catecholamine release-inhibitory peptide catestatin in humans at genetic risk of hypertension. J Hypertens 20: 1335-1345, 2002.
39. O'Malley KL, Anhalt MJ, Martin BM, Kelsoe JR, Winfield SL, and Ginns EI. Isolation and characterization of the human tyrosine hydroxylase gene: identification of 5′ alternative splice sites responsible for multiple mRNAs. Biochemistry 26: 6910-6914, 1987.
40. Parmer RJ, Cervenka JH, Stone RA, and O'Connor DT. Autonomic function in hypertension. Are there racial differences? Circulation 81: 1305-1311, 1990.
41. Puers C, Hammond HA, Jin L, Caskey CT, and Schumm JW. Identification of repeat sequence heterogeneity at the polymorphic short tandem repeat locus HUMTH01[AATG]n and reassignment of alleles in population analysis by using a locus-specific allelic ladder. Am J Hum Genet 53: 953-958, 1993.
42. Richard F, Faucon-Biguet N, Labatut R, Rollet D, Mallet J, and Buda M. Modulation of tyrosine hydroxylase gene expression in rat brain and adrenals by exposure to cold. J Neurosci Res 20: 32-37, 1988.
43. Rieder MJ, Taylor SL, Tobe VO, and Nickerson DA. Automating the identification of DNA variations using quality-based fluorescence resequencing: analysis of the human mitochondrial genome. Nucleic Acids Res 26: 967-973, 1998.
44. Risch N and Merikangas K. The future of genetic studies of complex human diseases. Science 273: 1516-1517, 1996.
45. Sabban EL and Kvetnansky R. Stress-triggered activation of gene expression in catecholaminergic systems: dynamics of transcriptional events. Trends Neurosci 24: 91-98, 2001.
46. Schneider GM, Jacobs DW, Gevirtz RN, and O'Connor DT. Cardiovascular haemodynamic response to repeated mental stress in normotensive subjects at genetic risk of hypertension: evidence of enhanced reactivity, blunted adaptation, and delayed recovery. J Hum Hypertens 17: 829-840, 2003.
47. Schwartz AR, Gerin W, Davidson KW, Pickering TG, Brosschot JF, Thayer JF, Christenfeld N, and Linden W. Toward a causal model of cardiovascular responses to stress and the development of cardiovascular disease. Psychosom Med 65: 22-35, 2003.
48. Sham PC, Cherny S, S, Purcell S, and Hewitt JK. Power of linkage versus association analysis of quantitative traits, by use of variance-components models, for sibship data. Am J Hum Genet 66: 1616-1630, 2000.
49. Sharma P, Hingorani A, Jia H, Ashby M, Hopper R, Clayton D, and Brown MJ. Positive association of tyrosine hydroxylase microsatellite marker to essential hypertension. Hypertension 32: 676-682, 1998.
50. Snieder H, Harshfield GA, Barbeau P, Pollock DM, Pollock JS, and Treiber FA. Dissecting the genetic architecture of the cardiovascular and renal stress response. Biol Psychol 61: 73-95, 2002.
51. Stachowiak M, Sebbane R, Stricker EM, Zigmond MJ, and Kaplan BB. Effect of chronic cold exposure on tyrosine hydroxylase mRNA in rat adrenal gland. Brain Res 359: 356-359, 1985.
52. Takiyyuddin MA, Farmer RJ, Kailasam MT, Cervenka JH, Kennedy B, Ziegler MG, Lin MC, Li J, Grim CE, Wright FA, and O'Connor DT. Chromogranin A in human hypertension. Influence of heredity. Hypertension 26: 213-220, 1995.
53. Thibaut F, Ribeyre JM, Dourmap N, Meloni R, Laurent C, Campion D, Menard JF, Dollfus S, Mallet J, and Petit M. Association of DNA polymorphism in the first intron of the tyrosine hydroxylase gene with disturbances of the catecholaminergic system in schizophrenia. Schizophr Res 23: 259-264, 1997.
54. Treiber FA, Kamarck T, Schneiderman N, Sheffield D, Kapuku G, and Taylor T. Cardiovascular reactivity and development of preclinical and clinical disease states. Psychosom Med 65: 46-62, 2003.
55. Waterston RH et al.; Mouse Genome Sequencing Consortium. Initial sequencing and comparative analysis of the mouse genome. Nature 420: 520-562, 2002.
56. Wei J, Ramchand CN, and Hemmings GP. Possible association of catecholamine turnover with the polymorphic (TCAT)n repeat in the first intron of the human tyrosine hydroxylase gene. Life Sci 61: 1341-1347, 1997.
57. Wen G, Mahata SK, Cadman P, Mahata M, Ghosh S, Mahapatra NR, Rao F, Stridsberg M, Smith DW, Mahboubi P, Schork NJ, O'Connor DT, and Hamilton BA. Both rare and common polymorphisms contribute functional variation at CHGA, a regulator of catecholamine physiology. Am J Hum Genet 74: 197-207, 2004.