Conserved regulatory motifs at phenylethanolamine N-methyltransferase (PNMT) are disrupted by common functional genetic variation: An integrated computational/experimental approach

Mammalian Genome

Volumn 21, Issue 3-4, 2010, Pages 195-204

  Rodríguez Flores, Juan L ^a,b,d   Zhang, Kuixing ^a   Kang, Sun Woo ^a,c   Wen, Gen ^a   Ghosh, Sajalendu ^a   Friese, Ryan S ^a   Mahata, Sushil K ^a   Subramaniam, Shankar ^b   Hamilton, Bruce A ^a   O'Connor, Daniel T ^a  

^a UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^c Inje University   (South Korea)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; EARLY GROWTH RESPONSE FACTOR 1; GUANOSINE; PHENYLETHANOLAMINE N METHYLTRANSFERASE; TRANSCRIPTION FACTOR SOX17; TRANSCRIPTION FACTOR SP1;

ADULT; AGED; ANIMAL CELL; ARTICLE; CHROMAFFIN CELL; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC TRAIT; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; IN VITRO STUDY; MALE; NONHUMAN; NUCLEOTIDE SEQUENCE; PREDICTION; PROMOTER REGION; PROTEIN MOTIF; RAT; REPORTER GENE;

ALLELES; AMINO ACID SUBSTITUTION; ANIMALS; ANTIBODY SPECIFICITY; BASE SEQUENCE; CHROMATIN; COMPUTATIONAL BIOLOGY; CONSERVED SEQUENCE; EARLY GROWTH RESPONSE PROTEIN 1; ELECTROPHORETIC MOBILITY SHIFT ASSAY; GENETIC VARIATION; HAPLOTYPES; HUMANS; MOLECULAR SEQUENCE DATA; PC12 CELLS; PHENYLETHANOLAMINE N-METHYLTRANSFERASE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; PROTEIN BINDING; RATS; SOXF TRANSCRIPTION FACTORS; SP1 TRANSCRIPTION FACTOR; TRANSCRIPTION, GENETIC; TRANSFECTION;

MAMMALIA;

EID: 77952421760     PISSN: 09388990     EISSN: 14321777     Source Type: Journal    
DOI: 10.1007/s00335-010-9253-y     Document Type: Article

References (35)

1. MC Andersen PG Engstrom S Lithwick D Arenillas P Eriksson, et al. 2008 In silico detection of sequence variations modifying transcriptional regulation PLoS Comput Biol 4 e5 10.1371/journal.pcbi.0040005 18208319 (Pubitemid 351230854)
2. KA Avery-Kiejda XD Zhang LJ Adams RJ Scott B Vojtesek, et al. 2008 Small molecular weight variants of p53 are expressed in human melanoma cells and are induced by the DNA-damaging agent cisplatin Clin Cancer Res 14 6 1659 1668 10.1158/1078-0432.CCR-07-1422 1:CAS:528:DC%2BD1cXjtlejt7w%3D 18310316 (Pubitemid 351469449)
3. E Berezikov V Guryev E Cuppen 2005 CONREAL web server: identification and visualization of conserved transcription factor binding sites Nucleic Acids Res 33 W447 W450 10.1093/nar/gki378 1:CAS:528:DC%2BD2MXlslyrtb8%3D 15980509 (Pubitemid 44529959)
4. M Blanchette WJ Kent C Riemer L Elnitski AF Smit, et al. 2004 Aligning multiple genomic sequences with the threaded blockset aligner Genome Res 14 708 715 10.1101/gr.1933104 1:CAS:528:DC%2BD2cXjt1yjt7g%3D 15060014 (Pubitemid 38500244)
5. M Brudno CB Do GM Cooper MF Kim E Davydov, et al. 2003 LAGAN and Multi-LAGAN: efficient tools for large-scale multiple alignment of genomic DNA Genome Res 13 721 731 10.1101/gr.926603 1:CAS:528:DC%2BD3sXjt1SqtL0%3D 12654723 (Pubitemid 36511930)
6. Y Chen F Rao JL Rodriguez-Flores NR Mahapatra M Mahata, et al. 2008 Common genetic variants in the chromogranin A promoter alter autonomic activity and blood pressure Kidney Int 74 115 125 10.1038/ki.2008.113 1:CAS:528:DC%2BD1cXntFymtr4%3D 18432188 (Pubitemid 351841890)
7. J Cui X Zhou I Chazaro AL DeStefano AJ Manolis, et al. 2003 Association of polymorphisms in the promoter region of the PNMT gene with essential hypertension in African Americans but not in whites Am J Hypertens 16 859 863 10.1016/S0895-7061(03)01026-4 1:CAS:528:DC%2BD3sXnvFWisLw%3D 14553966 (Pubitemid 37204684)
8. R Edgar M Domrachev AE Lash 2002 Gene Expression Omnibus: NCBI gene expression and hybridization array data repository Nucleic Acids Res 30 207 210 10.1093/nar/30.1.207 1:CAS:528:DC%2BD38Xht12kurs%3D 11752295
9. J Felsenstein GA Churchill 1996 A hidden Markov model approach to variation among sites in rate of evolution Mol Biol Evol 13 93 104 1:CAS:528:DyaK28XhtVylur0%3D 8583911
10. KA Frazer DG Ballinger DR Cox DA Hinds LL Stuve, et al. 2007 A second generation human haplotype map of over 3.1 million SNPs Nature 449 851 861 10.1038/nature06258 1:CAS:528:DC%2BD2sXhtFOjt7jL 17943122 (Pubitemid 47598626)
11. Y Ji OE Salavaggione L Wang AA Adjei B Eckloff, et al. 2005 Human phenylethanolamine N-methyltransferase pharmacogenomics: gene re-sequencing and functional genomics J Neurochem 95 1766 1776 10.1111/j.1471-4159.2005.03453.x 1:CAS:528:DC%2BD28XhsVKhtQ%3D%3D 16277617 (Pubitemid 41804072)
12. Y Ji EM Snyder BL Fridley OE Salavaggione I Moon, et al. 2008 Human phenylethanolamine N-methyltransferase genetic polymorphisms and exercise-induced epinephrine release Physiol Genomics 33 323 332 10.1152/physiolgenomics.00248.2007 1:CAS:528:DC%2BD1cXps1antLk%3D 18349382 (Pubitemid 352755734)
13. N Kaneda H Ichinose K Kobayashi K Oka F Kishi, et al. 1988 Molecular cloning of cDNA and chromosomal assignment of the gene for human phenylethanolamine N-methyltransferase, the enzyme for epinephrine biosynthesis J Biol Chem 263 7672 1:CAS:528:DyaL1MXhvFWi 3372503
14. WJ Kent CW Sugnet TS Furey KM Roskin TH Pringle, et al. 2002 The human genome browser at UCSC Genome Res 12 996 1006 1:CAS:528:DC%2BD38Xks12hs7s%3D 12045153
15. K Kepp P Juhanson V Kozich M Ots M Viigimaa, et al. 2007 Resequencing PNMT in European hypertensive and normotensive individuals: no common susceptibility variants for hypertension and purifying selection on intron 1 BMC Med Genet 8 47 10.1186/1471-2350-8-47 17645789 (Pubitemid 47272709)
16. RM Kuhn D Karolchik AS Zweig T Wang KE Smith, et al. 2009 The UCSC Genome Browser Database: update 2009 Nucleic Acids Res 37 D755 D761 10.1093/nar/gkn875 1:CAS:528:DC%2BD1cXhsFejtL3N 18996895
17. WP Liao L Uetzmann I Burtscher H Lickert 2009 Generation of a mouse line expressing Sox17-driven Cre recombinase with specific activity in arteries Genesis 47 476 483 10.1002/dvg.20520 1:CAS:528:DC%2BD1MXhtVSqtLzN 19415628
18. Y Liu M Asakura H Inoue T Nakamura M Sano, et al. 2007 Sox17 is essential for the specification of cardiac mesoderm in embryonic stem cells Proc Natl Acad Sci USA 104 3859 3864 10.1073/pnas.0609100104 1:CAS:528: DC%2BD2sXjt1yms7Y%3D 17360443 (Pubitemid 47181544)
19. MB Mann S Wu M Rostamkhani W Tourtellotte J MacMurray, et al. 2001 Phenylethanolamine N-methyltransferase (PNMT) gene and early-onset Alzheimer disease Am J Med Genet 105 312 316 10.1002/ajmg.1363 1:STN:280: DC%2BD3M3pslSjtA%3D%3D 11378842 (Pubitemid 32578226)
20. MB Mann S Wu M Rostamkhani W Tourtellotte JP MacMurray, et al. 2002 Association between the phenylethanolamine N-methyltransferase gene and multiple sclerosis J Neuroimmunol 124 101 105 10.1016/S0165-5728(02)00009-7 1:CAS:528:DC%2BD38XhslWjur8%3D 11958827 (Pubitemid 34212015)
21. BM Matata M Galinanes 2002 Peroxynitrite is an essential component of cytokines production mechanism in human monocytes through modulation of nuclear factor-kappa B DNA binding activity J Biol Chem 277 2330 2335 10.1074/jbc.M106393200 1:CAS:528:DC%2BD38XosFertg%3D%3D 11706022 (Pubitemid 34968820)
22. T Matsui M Kanai-Azuma K Hara S Matoba R Hiramatsu, et al. 2006 Redundant roles of Sox17 and Sox18 in postnatal angiogenesis in mice J Cell Sci 119 3513 3526 10.1242/jcs.03081 1:CAS:528:DC%2BD28XhtVymu77F 16895970 (Pubitemid 44501857)
23. E Oltra I Pfeifer R Werner 2003 Ini, a small nuclear protein that enhances the response of the connexin43 gene to estrogen Endocrinology 144 3148 3158 10.1210/en.2002-0176 1:CAS:528:DC%2BD3sXkvF2ktLY%3D 12810571 (Pubitemid 36819917)
24. KS Park JM Wells AM Zorn SE Wert JA Whitsett 2006 Sox17 influences the differentiation of respiratory epithelial cells Dev Biol 294 192 202 10.1016/j.ydbio.2006.02.038 1:CAS:528:DC%2BD28XksVOmsLs%3D 16574095
25. WR Peters JP MacMurry J Walker RJ Giese Jr DE Comings 2003 Phenylethanolamine N-methyltransferase G-148A genetic variant and weight loss in obese women Obes Res 11 415 419 10.1038/oby.2003.56 1:CAS:528: DC%2BD3sXisVKgtbo%3D 12634439
26. BK Rana PA Insel SH Payne K Abel E Beutler, et al. 2007 Population-based sample reveals gene-gender interactions in blood pressure in White Americans Hypertension 49 96 106 10.1161/01.HYP.0000252029.35106.67 1:CAS:528: DC%2BD28XhtlSrs7nO 17159089 (Pubitemid 46360347)
27. Y Saito Y Kanai M Sakamoto H Saito H Ishii, et al. 2001 Expression of mRNA for DNA methyltransferases and methyl-CpG-binding proteins and DNA methylation status on CpG islands and pericentromeric satellite regions during human hepatocarcinogenesis Hepatology 33 561 568 10.1053/jhep.2001.22507 1:CAS:528:DC%2BD3MXit1emt78%3D 11230735 (Pubitemid 32185217)
28. T Sasaoka N Kaneda Y Kurosawa K Fujita T Nagatsu 1989 Structure of human phenylethanolamine N-methyltransferase gene: existence of two types of mRNA with different transcription initiation sites Neurochem Int 15 555 565 10.1016/0197-0186(89)90176-9 1:CAS:528:DyaK3cXitFWkt7g%3D
29. GA Thorisson AV Smith L Krishnan LD Stein 2005 The International HapMap Project Web site Genome Res 15 1592 1593 10.1101/gr.4413105 1:CAS:528: DC%2BD2MXhtF2itb%2FM 16251469 (Pubitemid 41545013)
30. D Vlieghe A Sandelin PJ De Bleser K Vleminckx WW Wasserman, et al. 2006 A new generation of JASPAR, the open-access repository for transcription factor binding site profiles Nucleic Acids Res 34 D95 D97 10.1093/nar/gkj115 1:CAS:528:DC%2BD28XisFyhug%3D%3D 16381983
31. WW Wasserman A Sandelin 2004 Applied bioinformatics for the identification of regulatory elements Nat Rev Genet 5 276 287 10.1038/nrg1315 1:CAS:528:DC%2BD2cXjtVartLo%3D 15131651 (Pubitemid 38435623)
32. E Wingender P Dietze H Karas R Knuppel 1996 TRANSFAC: a database on transcription factors and their DNA binding sites Nucleic Acids Res 24 238 241 10.1093/nar/24.1.238 1:CAS:528:DyaK28XnsFSiug%3D%3D 8594589 (Pubitemid 26085775)
33. DL Wong AW Tank 2007 Stress-induced catecholaminergic function: transcriptional and post-transcriptional control Stress 10 121 130 10.1080/10253890701393529 1:CAS:528:DC%2BD2sXlsVeqsrw%3D 17514580 (Pubitemid 46789481)
34. S Wu DE Comings 1999 Two single nucleotide polymorphisms in the promoter region of the human phenylethanolamine N-methyltransferase PNMT gene Psychiatr Genet 9 187 188 1:STN:280:DC%2BD3c7mt12gsQ%3D%3D 10697825
35. E Yamano T Isowa Y Nakano F Matsuda T Hashimoto-Tamaoki, et al. 2008 Association study between reward dependence temperament and a polymorphism in the phenylethanolamine N-methyltransferase gene in a Japanese female population Compr Psychiatry 49 503 507 10.1016/j.comppsych.2008.03.001 18702937