Gene targeting approaches to analyzing hypertension

Journal of the American Society of Nephrology

Volumn 10, Issue 7, 1999, Pages 1598-1605

  Takahashi, Nobuyuki ^a   Smithies, Oliver ^a  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; ALDOSTERONE SYNTHASE; ANGIOTENSIN; ANGIOTENSIN RECEPTOR; ANGIOTENSINOGEN; ATRIAL NATRIURETIC FACTOR; BRADYKININ B2 RECEPTOR; CORTICOTROPIN; DIPEPTIDYL CARBOXYPEPTIDASE; GLUCOCORTICOID; MINERALOCORTICOID; NITRIC OXIDE SYNTHASE; RENIN; SODIUM CHANNEL; STEROID 11BETA MONOOXYGENASE;

BLOOD PRESSURE REGULATION; ESSENTIAL HYPERTENSION; GENE DISRUPTION; GENE EXPRESSION; GENE TARGETING; GENETIC VARIABILITY; HUMAN; HYPERALDOSTERONISM; KNOCKOUT MOUSE; LIDDLE SYNDROME; NONHUMAN; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; REVIEW; TITRIMETRY; TRANSGENIC MOUSE;

EID: 0033022137     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (50)

1. Lifton RP, Dluhy RG, Powers M, Rich GM, Cook S, Ulick S, Lalouel JM: A chimaeric 11 β-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature 355: 262-265, 1992
2. Mune T, Rogerson FM, Nikkila H, Agarwal AK, White PC: Human hypertension caused by mutations in the kidney isozyme of 11 β-hydroxysteroid dehydrogenase. Nat Genet 10: 394-399, 1995
3. Wilson RC, Krozowski ZS, Li K, Obeyesekere VR, Razzaghy-Azar M, Harbison MD, Wei JQ, Shackleton CH, Funder JW, New MI: A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. J Clin Endocrinol Metab 80: 2263-2266, 1995
4. Stewart PM, Wallace AM, Valentino R, Burt D, Shackleton CH, Edwards CR: Mineralocorticoid activity of liquorice: 11 β-hydroxysteroid dehydrogenase deficiency comes of age. Lancet 2: 821-824, 1987
5. Canessa CM, Horisberger JD, Rossier BC: Epithelial sodium channel related to proteins involved in neurodegeneration. Nature 361: 467-470, 1993
6. Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Lu Y, Canessa C, Iwasaki T, Rossier B, Lifton RP: Hypertension caused by a truncated epithelial sodium channel γ subunit: Genetic heterogeneity of Liddle syndrome. Nat Genet 11: 76-82, 1995
7. Hansson JH, Schild L, Lu Y, Wilson TA, Gautschi I, Shimkets R, Nelson-Williams C, Rossier BC, Lifton RP: A de novo missense mutation of the β subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. Proc Natl Acad Sci USA 92: 11495-11499, 1995
8. Shimkets RA, Warnock DG, Bositis CM, Nelson-Williams C, Hansson JH, Schambelan M, Gill JR Jr, Ulick S, Milora RV, Findling JW, Canessa CM, Rossier BC, Lifton RC: Liddle's syndrome: Heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel. Cell 79: 407-414, 1994
9. Shimkets RA, Lifton RP, Canessa CM: The activity of the epithelial sodium channel is regulated by clathrin-mediated endocytosis. J Biol Chem 272: 25537-25541, 1997
10. Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, Vaara I, Iwata F, Cushner HM, Koolen M, Gainza FJ, Gitleman HJ, Lifton RP: Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 12: 24-30, 1996
11. Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP: Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 13: 183-188, 1996
12. + channel, ROMK. Nat Genet 14: 152-156, 1996
13. Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, Schurman S, Nayir A, Alpay H, Bakkaloglu A, Rodriguez-Soriano J, Morales JM, Sanjad SA, Taylor CM, Pilz D, Brem A, Trachtman H, Griswold W, Richard GA, John E, Lifton RC: Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 17: 171-178, 1997
14. Jacob HJ, Lindpaintner K, Lincoln SE, Kusumi K, Bunker RK, Mao YP, Ganten D, Dzau VJ, Lander ES: Genetic mapping of a gene causing hypertension in the stroke-prone spontaneously hypertensive rat. Cell 67: 213-224, 1991
15. Rapp JP, Wang SM, Dene H: A genetic polymorphism in the renin gene of Dahl rats cosegregates with blood pressure. Science 243: 542-544, 1989
16. Jeunemaitre X, Soubrier F, Kotelevtsev YV, Lifton RP, Williams CS, Charru A, Hunt SC, Hopkins PN, Williams RR, Lalouel JM, Corvol P: Molecular basis of human hypertension: Role of angiotensinogen. Cell 71: 169-180, 1992
17. Kim HS, Krege JH, Kluckman KD, Hagaman JR, Hodgin JB, Best CF, Jennette JC, Coffman TM, Maeda N, Smithies O: Genetic control of blood pressure and the angiotensinogen locus. Proc Natl Acad Sci USA 92: 2735-2739, 1995
18. Anneren KG, Korenberg JR, Epstein CJ: Phosphofructokinase activity in fibroblasts aneuploid for chromosome 21. Hum Genet 76: 63-65, 1987
19. Oliver PM, John SW, Purdy KE, Kim R, Maeda N, Goy MF, Smithies O: Natriuretic peptide receptor 1 expression influences blood pressures of mice in a dose-dependent manner. Proc Natl Acad Sci USA 95: 2547-2551, 1998
20. Oliver PM, Fox JE, Kim R, Rockman HA, Kim HS, Reddick RL, Pandey KN, Milgram SL, Smithies O, Maeda N: Hypertension, cardiac hypertrophy, and sudden death in mice lacking natriuretic peptide receptor A. Proc Natl Acad Sci USA 94: 14730-14735, 1997
21. Lopez MJ, Wong SK, Kishimoto I, Dubois S, Mach V, Friesen J, Garbers DL, Beuve A: Salt-resistant hypertension in mice lacking the guanylyl cyclase-A receptor for atrial natriuretic peptide. Nature 378: 65-68, 1995
22. John SW, Krege JH, Oliver PM, Hagaman JR, Hodgin JB, Pang SC, Flynn TG, Smithies O: Genetic decreases in atrial natriuretic peptide and salt-sensitive hypertension. Science 267: 679-681, 1995
23. Steinhelper ME, Cochrane KL, Field LJ: Hypotension in transgenic mice expressing atrial natriuretic factor fusion genes. Hypertension 16: 301-307, 1990
24. 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 93: 1911-1921, 1994
25. Inoue I, Nakajima T, Williams CS, Quackenbush J, Puryear R, Powers M, Cheng T, Ludwig EH, Sharma AM, Hata A, Jeunemaitre X, Lalouel JM: A nucleotide substitution in the promoter of human angiotensinogen is associated with essential hypertension and affects basal transcription in vitro. J Clin Invest 99: 1786-1797, 1997
26. Tanimoto K, Sugiyama F, Goto Y, Ishida J, Takimoto E, Yagami K, Fukamizu A, Murakami K: Angiotensinogen-deficient mice with hypotension. J Biol Chem 269: 31334-31337, 1994
27. Smithies O, Maeda N: Gene targeting approaches to complex genetic diseases: Atherosclerosis and essential hypertension. Proc Natl Acad Sci USA 92: 5266-5272, 1995
28. Niimura F, Labosky PA, Kakuchi J, Okubo S, Yoshida H, Oikawa T, Ichiki T, Naftilan AJ, Fogo A, Inagami T, Hogan BLM, Ichikawa I: Gene targeting in mice reveals a requirement for angiotensin in the development and maintenance of kidney morphology and growth factor regulation. J Clin Invest 96: 2947-2954, 1995
29. Krege JH, John SW, Langenbach LL, Hodgin JB, Hagaman JR, Bachman ES, Jennette JC, O'Brien DA, Smithies O: Male-female differences in fertility and blood pressure in ACE- deficient mice. Nature 375: 146-148, 1995
30. Tsuchida S, Matsusaka T, Chen X, Okubo S, Niimura F, Nishimura H, Fogo A, Utsunomiya H, Inagami T, Ichikawa I: Murine double nullizygotes of the angiotensin type 1A and 1B receptor genes duplicate severe abnormal phenotypes of angiotensinogen nullizygotes. J Clin Invest 101: 755-760, 1998
31. Clark AF, Sharp MGF, Morley SD, Fleming S, Peters J, Mullins JJ: Renin-1 is essential for normal renal juxtaglomerular cell granulation and macula densa morphology. J Biol Chem 272: 18185-18190, 1997
32. Sharp MG, Fettes D, Brooker G, Clark AF, Peters J, Fleming S, Mullins JJ: Targeted inactivation of the Ren-2 gene in mice. Hypertension 28: 1126-1131, 1996
33. Bernstein KE, Martin BM, Edwards AS, Bernstein EA: Mouse angiotensin-converting enzyme is a protein composed of two homologous domains. J Biol Chem 264: 11945-11951, 1989
34. Soubrier F, Alhenc-Gelas F, Hubert C, Allegrini J, John M, Tregear G, Corvol P: Two putative active centers in human angiotensin I-converting enzyme revealed by molecular cloning. Proc Natl Acad Sci USA 85: 9386-9390, 1988
35. Sibony M, Gasc JM, Soubrier F, Alhenc-Gelas F, Corvol P: Gene expression and tissue localization of the two isoforms of angiotensin I converting enzyme. Hypertension 21: 827-835, 1993
36. Langford KG, Zhou Y, Russell LD, Wilcox JN, Bernstein KE: Regulated expression of testis angiotensin-converting enzyme during spermatogenesis in mice. Biol Reprod 48: 1210-1218, 1993
37. Krege JH, Kim HS, Moyer JS, Jennette JC, Peng L, Hiller SK, Smithies O: Angiotensin-converting enzyme gene mutations, blood pressures, and cardiovascular homeostasis. Hypertension 29: 150-157, 1997
38. Smithies O: Theodore Cooper Memorial Lecture. A mouse view of hypertension. Hypertension 30: 1318-1324, 1997
39. Campbell DJ, Kladis A, Duncan AM: Effects of converting enzyme inhibitors on angiotensin and bradykinin peptides. Hypertension 23: 439-449, 1994
40. Ito M, Oliverio MI, Mannon PJ, Best CF, Maeda N, Smithies O, Coffman TM: Regulation of blood pressure by the type 1A angiotensin II receptor gene. Proc Natl Acad Sci USA 92: 3521-3525. 1995
41. Sugaya T, Nishimatsu S, Tanimoto K, Takimoto E, Yamagishi T, Imamura K, Goto S, Imaizumi K, Hisada Y, Otsuka A, Uchida H, Sugiura M, Fukuta K, Fukamizu A, Murakami K: Angiotensin II type 1a receptor-deficient mice with hypotension and hyperreninemia. J Biol Chem 270: 18719-18722, 1995
42. Chen X, Li W, Yoshida H, Tsuchida S, Nishimura H, Takemoto F, Okubo S, Fogo A, Matsusaka T, Ichikawa I: Targeting deletion of angiotensin type 1B receptor gene in the mouse. Am J Physiol 272: F299-F304, 1997
43. Ichiki T, Labosky PA, Shiota C, Okuyama S, Imagawa Y, Fogo A, Niimura F, Ichikawa I, Hogan BL, Inagami T: Effects on blood pressure and exploratory behaviour of mice lacking angiotensin II type-2 receptor. Nature 377: 748-750, 1995
44. Hein L, Barsh GS, Pratt RE, Dzau VJ, Kobilka BK: Behavioural and cardiovascular effects of disrupting the angiotensin II type-2 receptor in mice. Nature 311: 744-747, 1995
45. Shesely EG, Maeda N, Kim HS, Desai KM, Krege JH, Laubach VE, Sherman PA, Sessa WC, Smithies O: Elevated blood pressures in mice lacking endothelial nitric oxide synthase. Proc Natl Acad Sci USA 93: 13176-13181, 1996
46. Huang PL, Huang Z, Mashimo H, Bloch KD, Moskowitz MA, Bevan JA, Fishman MC: Hypertension in mice lacking the gene for endothelial nitric oxide synthase. Nature 377: 239-242, 1995
47. Huang Z, Huang PL, Panahian N, Dalkara T, Fishman MC, Moskowitz MA: Effects of cerebral ischemia in mice deficient in neuronal nitric oxide synthase. Science 265: 1883-1885, 1994
48. Kurihara Y, Kurihara H, Suzuki H, Kodama T, Maemura K, Nagai R, Oda H, Kuwaki T, Cao WH, Kamada N, Jishage K, Ouchi Y, Azuma S, Toyoda Y, Ishikawa T, Kumada M, Yazaki Y: Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1. Nature 368: 703-710, 1994
49. Madeddu P, Varoni MV, Palomba D, Emanueli C, Demontis MP, Glorioso N, Dessi-Fulgheri P, Sarzani R, Anania V: Cardiovascular phenotype of a mouse strain with disruption of bradykinin B2-receptor gene. Circulation 96: 3570-3578, 1997
50. Alfie ME, Sigmon DH, Pomposiello SI, Carretero OA: Effect of high salt intake in mutant mice lacking bradykinin-B2 receptors. Hypertension 29: 483-487, 1997