Functional deletion mutation of the 5'-flanking region of type A human natriuretic peptide receptor gene and its association with essential hypertension and left ventricular hypertrophy in the Japanese

Circulation Research

Volumn 86, Issue 8, 2000, Pages 841-845

  Nakayama, Tomohiro ^a   Soma, Masayoshi ^a   Takahashi, Yukie ^a   Rehemudula, Duolikun ^a   Kanmatsuse, Katsuo ^a   Furuya, Kiyohide ^a  

^a NIHON UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

5' flanking region; Essential hypertension; Natriuretic peptides; Type A receptors

Indexed keywords

NUCLEOTIDE; PEPTIDE; RECEPTOR; TRANSCRIPTION FACTOR AP 2;

ADULT; ALLELE; ARTICLE; BLOOD PRESSURE REGULATION; ESSENTIAL HYPERTENSION; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENOTYPE; HEART LEFT VENTRICLE HYPERTROPHY; HUMAN; JAPAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECEPTOR GENE;

EID: 0034724907     PISSN: 00097330     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.RES.86.8.841     Document Type: Article

References (37)

1. Laragh JH. Atrial natriuretic hormone, the renin-aldosterone axis, and blood pressure-electrolyte homeostasis. N Engl J Med. 1985;313: 1330-1340.
2. Lowe DG, Chang M-S, Hellmiss R, Chen E, Singh S, Garbers DL, Goeddel DV. Human atrial natriuretic peptide receptor defines a new paradigm for second messenger signal transduction. EMBO J. 1989;8: 1377-1384.
3. Chang M-S, Lowe DG, Lewis M, Hellmiss R, Chen E, Goeddel DV. Differential activation by atrial and brain natriuretic peptides of two different receptor guanylate cyclases. Nature. 1989;341:68-72.
4. Fuller F, Porter JG, Arfsten AE, Miller J, Schilling JW, Scarborough RM, Lewicki JA, Schenk DB. Atrial natriuretic peptide clearance receptor: complete sequence and functional expression of cDNA clones. J Biol Chem. 1988;263:9395-9401.
5. Yuen PS, Garbers DL. Guanylyl cyclase-linked receptors. Annu Rev Neurosci. 1992;15:193-225.
6. Koller KJ, Lowe DG, Bunntt GL, Minamino N, Kangawa K, Matsuo H, Goeddel DV. Selective activation of the B-natriuretic peptide receptor by C-type natriuretic peptide (CNP). Science. 1991;252:120-123.
7. Needleman P, Adams Sp, Coie BR, Currie MG, Geller DG, Michener ML, Saper CB, Schwartz D, Standaert DG. Atriopeptides as cardiac hormones. Hypertension. 1985;7:469-482.
8. Maack T, Camargo MJF, Kleinert HD, Laragh JH, Atlas SA. Atrial natriuretic factor: structure and functional properties. Kidney Int. 1985; 27:607-615.
9. Meloche S, McNicoll N, Liu B, Ong H, Lean AD. Atrial natriuretic factor Rl receptor from bovine adrenal zona glomerulosa: purification, characterization, and modulation by amilloride. Biochemistry. 1988;27: 8151-8169.
10. Schenk DB, Phelps MN, Porter JG, Fuller F, Cordell B, Lewicki JA. Purification and subunit composition of atrial natriuretic peptide receptor. Proc Natl Acad Sci USA. 1987;84:1521-1525.
11. Bennett BD, Bennett GL, Vitangcol RV, Jewett JS, Burnier J, Henzel W, Lowe DG. Extracellular domain-IgG fusion proteins for three human natriuretic peptide receptors: hormone pharmacology and application to solid phase screening of synthetic peptide antisera. J Biol Chem. 1991; 266:23060-23067.
12. Jeunemaitre X, Soubrier F, Kotelevtsev YV, Lifton RP, Williams CS, Charru A, Hunt SC, Hopkins PN, Williams RR, Lalouel J-M, Corvol P. Molecular basis of human hypertension: role of angiotensinogen. Cell. 1992;71:169-180.
13. Oliver PM, Fox JE, Kim R, Rockman HA, Kim H-S, Reddick RL, Pandey KN, Hilgram SL, Smithies O, Maeda N. Hypertension, cardiac hypertrophy, and sudden death in mice lacking natriuretic peptide receptor A. Proc Natl Acad Sci USA. 1997;94:14730-14735.
14. Takahashi Y, Nakayama T, Soma M, Izumi Y, Kanmatsuse K. Organization of the human natriuretic peptide receptor A gene. Biochem Biophys Res Commun. 1998;246:735-739.
15. Liu Y, Whittier RF. Thermal asymmetric interlaced PCR: automatable amplification and sequencing of insert end fragments from P1 and YAC clones for chromosome walking. Genomics. 1995;25:674-681.
16. Rehemudula D, Nakayama T, Soma M, Izumi Y, Kanmatsuse K. Organization of the human natriuretic peptide receptor B gene and association analysis with essential hypertension. Circ Res. 1999;84:605-610.
17. Nakayama T, Soma M, Rahmutula D, Izumi Y, Kanmatsuse K. Nonsense mutation of prostacyclin synthase gene in a family. Lancet. 1997;349: 1887-1888.
18. Ausbel FM, Brent R, Kingstone RE, Moore DD, Seidman JG, Smith JA, Struhl K. Current Protocols in Molecular Biology. New York, John Wiley & Sons Inc; 1988.
19. Hama N, Nakao K, Mukoyama M, Suga S, Ogawa Y, Kawabata Y, Sugawara A, Imura H. Fundamental and clinical evaluation of 'Shionoria ANP,' human atrial natriuretic peptide IRMA kit. Clin Report. 1991;25: 455-462.
20. Nishikimi T, Yoshihara F, Morimoto A, Ishikawa K, Ishimitsu T, Saito Y, Kangawa K, Matsuo H, Omae T, Matsuoka H. Relationship between left ventricular geometry and natriuretic peptide levels in essential hypertension. Hypertension. 1996;28:22-30.
21. Yasue H, Yoshimura M, Jougasaki M, Itoh H, Suga S, Ogawa Y, Nakao K. Plasma levels of brain natriuretic peptide in normal subjects and patients with chronic heart failure: measurement by immunoradiometric assay (IRMA). Horm Clin. 1993;41:397-403.
22. Lowe DG, Klisak I, Sparkes RS, Mohandas T, Goeddel DV. Chromosomal distribution of three members of the human natriuretic peptide receptor/guanylyl cyclase gene family. Genomics. 1990;8:304-312.
23. Resnick N, Collins, Atkinson W, Bonthron DT, Dewey CF Jr, Gimbrone MA Jr. Platelet-derived growth factor B chain promoter contains a cis-acting fluid shear-stress-responsive element. Proc Natl Acad Sci USA. 1993;90:4591-4595.
24. Yamaguchi M, Rutledge LJ, Garbers DL. The primary structure of the rat guanylyl cyclase A/atrial natriuretic peptide receptor gene. J Biol Chem. 1990;262:20414-20420.
25. Buettner R, Kannan P, Imhof A, Bauer R, Yim SO, Glockshuber R, van Dyke MW, Tainsky MA. An alternatively splice mRNA from the AP-2 gene encodes a negative regulator of transcriptional activation by AP-2. Mol Cell Biol. 1993;13:4174-4185.
26. Chen H, Rossier C, Antonarakis SE. Cloning of a human homolog of the Drosophila enhancer of Zeste gene (EZH2) that maps to chromosome 21q22.2. Genomics. 1996;38:30-37.
27. Fahrner J, Labruyere W, Gaunitz C, Moorman AFM, Gebhardt R, Lamers WH. Identification and functional characterization of regulatory elements of the glutamine synthetase gene from rat liver. Eur J Biochem. 1993; 213:1067-1073.
28. Duan C, Clemmons DR. Transcription factor AP-2 regulates human insulin-like growth factor binding protein-5 gene expression. J Biol Chem. 1995;270:24844-24851.
29. Sugawara A, Nakao K, Sakamoto M, Morii N, Yanada T, Itoh H, Shiono S, Imura H. Plasma concentration of atrial natriuretic polypeptide in essential hypertension. Lancet. 1985:1426-1427.
30. Mukoyama M, Nakao K, Saito Y, Ogawa Y, Hosoda K, Suga S, Shirakami G, Jougasaki M, Imura H. Human brain natriuretic polypeptide, a novel cardiac hormone. Lancet. 1990;335:801-802.
31. Steinhelper ME, Cochrane KL, Field LJ. Hypotension in transgenic mice expressing atrial natriuretic factor fusion genes. Hypertension. 1990;16: 301-307.
32. Ogawa Y, Itoh H, Tamura N, Suga S, Yoshimasa T, Uehira M, Matsuda S, Shiono S, Nishimoto H, Nakao K. Molecular cloning of the complementary DNA and gene that encode mouse brain natriuretic peptide and generation of transgenic mice that overexpress the brain natriuretic peptide gene. J Clin Invest. 1994;93:1911-1921.
33. Otero ML, Martell N, Aubele AL, Rodrigo JL, Herrero M, Moya J, Egocheaga I, Femandez-Cruz A, Pinilla F. Volume overload, atrial natriuretic peptide, and left ventricular hypertrophy. Adv Exp Med Biol. 1997;432:103-109.
34. Yamamoto K, Burnett JC Jr, Jougasaki M, Nishimura RA, Bailey KR, Saito Y, Nakao K, Redfield MM. Superiority of brain natriuretic peptide as a hormonal marker of ventricular systolic and diastolic dysfunction and ventricular hypertrophy. Hypertension. 1996;28:988-994.
35. Saito Y, Nakao K, Nishimura K, Sugawara A, Okumura K, Obata K, Sonoda R, Ban T, Yasue H, Imura H. Clinical application of atrial natriuretic polypeptide in patients with congestive heart failure: beneficial effects on left ventricular function. Circulation. 1987;76:115-124.
36. Yoshimura M, Yasue H, Morita E, Sakaino N, Jougasaki M, Kurose M, Mukoyama M, Saito Y, Nakao K, Imura H. Hemodynamic, renal, and hormonal responses to brain natriuretic peptide infusion in patients with congestive heart failure. Circulation. 1991;81:1581-1588.
37. Nakagawa O, Ogawa Y, Itoh H, Suga S, Komatsu Y, Kishimoto I, Nishio K, Yoshimasa T, Nakao K. Rapid transcriptional activation and early mRNA turnover of brain natriureuc peptide in cardiocyte hypertrophy evidence for brain natriuretic peptide as an emergency cardiac hormone against ventricular overload. J Clin Invest. 1995;96:1280-1287.