Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase
Patients with glucocorticoid-remediable aldosteronism (GRA) from 12 kindreds possess chimaeric gene duplications arising from unequal crossing-over, fusing regulatory sequences of steroid 11 beta-hydroxylase to coding sequences of aldosterone synthase. These chimaeric genes are specific for GRA and...
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| Published in | Nature genetics Vol. 2; no. 1; pp. 66 - 74 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
01.09.1992
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| Subjects | |
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| Abstract | Patients with glucocorticoid-remediable aldosteronism (GRA) from 12 kindreds possess chimaeric gene duplications arising from unequal crossing-over, fusing regulatory sequences of steroid 11 beta-hydroxylase to coding sequences of aldosterone synthase. These chimaeric genes are specific for GRA and explain the biochemistry, physiology and genetics of this form of hypertension. Sites of crossing over range from intron 2 to intron 4. Most mutations have arisen independently from either sister or non-sister chromatid exchange between these genes, which are only 45 kilobases apart. The possibility of a susceptibility allele for GRA of Irish origin is suggested. These findings indicate the utility of a direct genetic test for this disorder. |
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| AbstractList | Patients with glucocorticoid-remediable aldosteronism (GRA) from 12 kindreds possess chimaeric gene duplications arising from unequal crossing-over, fusing regulatory sequences of steroid 11 beta -hydroxylase to coding sequences of aldosterone synthase. These chimaeric genes are specific for GRA and explain the biochemistry, physiology and genetics of this form of hypertension. Sites of crossing over range from intron 2 to intron 4. Most mutations have arisen independently from either sister or non-sister chromatid exchange between these genes, which are only 45 kilobases apart. The possibility of a susceptibility allele for GRA of Irish origin is suggested. These findings indicate the utility of a direct genetic test for this disorder. Patients with glucocorticoid-remediable aldosteronism (GRA) from 12 kindreds possess chimaeric gene duplications arising from unequal crossing-over, fusing regulatory sequences of steroid 11 beta -hydroxylase to coding sequences of aldosterone synthase. These chimaeric genes are specific for GRA and explain the biochemistry, physiology and genetics of this form of hypertension. Sites of crossing over range from intron 2 to intron 4. Most mutations have arisen independently from either sister or non-sister chromatid exchange between these genes, which are only 45 kilobases apart. The possibility of a susceptibility allele for GRA of Irish origin is suggested. |
| Author | Gutkin, Michael Kaufman, Chris Gill, John R Lifton, Richard P Powers, Michael Fallo, Francesco Stockigt, Jan R Rich, Glenn M Feld, Leonard Ulick, Stanley Ganguly, Arunabha Lalouel, Jean-Marc Murnaghan, D.J Dluhy, Robert G Laidlaw, Jack C |
| Author_xml | – sequence: 1 givenname: Richard P surname: Lifton fullname: Lifton, Richard P – sequence: 2 givenname: Robert G surname: Dluhy fullname: Dluhy, Robert G – sequence: 3 givenname: Michael surname: Powers fullname: Powers, Michael – sequence: 4 givenname: Glenn M surname: Rich fullname: Rich, Glenn M – sequence: 5 givenname: Michael surname: Gutkin fullname: Gutkin, Michael – sequence: 6 givenname: Francesco surname: Fallo fullname: Fallo, Francesco – sequence: 7 givenname: John R surname: Gill fullname: Gill, John R – sequence: 8 givenname: Leonard surname: Feld fullname: Feld, Leonard – sequence: 9 givenname: Arunabha surname: Ganguly fullname: Ganguly, Arunabha – sequence: 10 givenname: Jack C surname: Laidlaw fullname: Laidlaw, Jack C – sequence: 11 givenname: D.J surname: Murnaghan fullname: Murnaghan, D.J – sequence: 12 givenname: Chris surname: Kaufman fullname: Kaufman, Chris – sequence: 13 givenname: Jan R surname: Stockigt fullname: Stockigt, Jan R – sequence: 14 givenname: Stanley surname: Ulick fullname: Ulick, Stanley – sequence: 15 givenname: Jean-Marc surname: Lalouel fullname: Lalouel, Jean-Marc |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/1303253$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1001/jama.1990.03450200062032 10.1146/annurev.ne.10.030187.001115 10.1007/BF00315995 10.1073/pnas.87.7.2725 10.1016/S0021-9258(18)99077-0 10.1210/jcem-71-5-1151 10.1016/0888-7543(89)90129-8 10.1016/0888-7543(90)90530-8 10.1016/S0021-9258(20)81918-8 10.1210/jcem-64-1-22 10.1111/j.1365-2265.1985.tb00168.x 10.1542/peds.65.3.597 10.1073/pnas.78.9.5759 10.1210/jcem-27-2-300 10.1016/S0021-9258(18)34909-3 10.1210/jcem-36-4-715 10.1007/BF01560665 10.1016/0003-2697(89)90019-5 10.1073/pnas.84.20.7193 10.1172/JCI115182 10.1016/0003-2697(83)90418-9 10.1016/S0021-9258(19)30030-4 10.1038/355262a0 10.1016/S0006-291X(05)81058-7 10.1210/jcem-59-5-1022 10.7326/0003-4819-116-10-813 10.1146/annurev.ph.50.030188.002235 |
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| References | Rich, G.M. (b9) 1992; 116 Ogishima, T. (b12) 1991; 266 Simpson, E.R., Waterman, M.R. (b15) 1988; 50 Gomez-Sanchez, C.E. (b7) 1984; 59 Grim, C.E., Weinberger, M.H. (b22) 1980; 65 Lifton, R.P. (b14) 1992; 355 Sutherland, D.J., Ruse, J.L., Laidlaw, J.C. (b3) 1966; 95 Fallo, F. (b31); 22 Stockigt, J.R., Scoggins, B.A. (b21) 1987; 64 Weir, B.S. (b30) 1990 O'Mahony, S., Burns, A., Murnaghan, D.J. (b23) 1989; 3 Schowalter, D.B., Sommer, S.S. (b28) 1989; 177 Nathans, J. (b18) 1987; 10 White, P.C. (b20) 1991; 87 Ulick, S., Chu, M.D., Land, M.J. (b6) 1983; 258 Mornet, E., Dupont, B., Vitek, A., White, P.C. (b10) 1989; 264 Giebink, G.S., Gotlin, R.W., Biglieri, E.G., Katz, F.H. (b24) 1973; 36 Chu, M.D., Ulick, S.J. (b5) 1982; 257 Lifton, R.P., Sardet, C., Pouyssegur, J., Lalouel, J-M. (b29) 1990; 7 Hahn, R.A., Teutsch, S.M., Rothenberg, R.B., Marks, J.S. (b1) 1990; 264 Ulick, S. (b8) 1990; 71 Kazazian, H. (b19) 1990; 27 Kawamoto, T. (b11) 1990; 173 Gilliland, G., Perrin, S., Blanchard, K., Bunn, F. (b17) 1990; 87 Orita, M., Suzuki, Y., Sekiya, T., Hayashi, K. (b32) 1989; 5 Ward, R. (b2) 1990 Gardiner, K., Laas, W., Paterson, D. (b26) 1986; 12 Bell, G., Karam, J., Rutter, W. (b25) 1981; 78 Feinberg, A.P., Vogelstein, B.A. (b27) 1983; 132 Yabu, M. (b16) 1991; 96 New, M.I., Peterson, R.E. (b4) 1967; 27 Chua, S.C. (b13) 1987; 84 CE Gomez-Sanchez (BFng099266_CR7) 1984; 59 F. FALLO (BFng099266_CR31) 1985; 22 AP Feinberg (BFng099266_CR27) 1983; 132 M Orita (BFng099266_CR32) 1989; 5 RA Hahn (BFng099266_CR1) 1990; 264 RP Lifton (BFng099266_CR14) 1992; 355 J Nathans (BFng099266_CR18) 1987; 10 S Ulick (BFng099266_CR8) 1990; 71 S O'Mahony (BFng099266_CR23) 1989; 3 GS Giebink (BFng099266_CR24) 1973; 36 M Yabu (BFng099266_CR16) 1991; 96 G Gilliland (BFng099266_CR17) 1990; 87 PC White (BFng099266_CR20) 1991; 87 DB Schowalter (BFng099266_CR28) 1989; 177 T Ogishima (BFng099266_CR12) 1991; 266 MI New (BFng099266_CR4) 1967; 27 CE Grim (BFng099266_CR22) 1980; 65 RP Lifton (BFng099266_CR29) 1990; 7 H Kazazian (BFng099266_CR19) 1990; 27 BFng099266_CR30 SC Chua (BFng099266_CR13) 1987; 84 DJ Sutherland (BFng099266_CR3) 1966; 95 JR Stockigt (BFng099266_CR21) 1987; 64 MD Chu (BFng099266_CR5) 1982; 257 G Bell (BFng099266_CR25) 1981; 78 S Ulick (BFng099266_CR6) 1983; 258 K Gardiner (BFng099266_CR26) 1986; 12 T Kawamoto (BFng099266_CR11) 1990; 173 ER Simpson (BFng099266_CR15) 1988; 50 E Mornet (BFng099266_CR10) 1989; 264 R Ward (BFng099266_CR2) 1990 GM Rich (BFng099266_CR9) 1992; 116 |
| References_xml | – volume: 50 start-page: 427 year: 1988 end-page: 440 ident: b15 publication-title: Annu. Rev. Physiol. contributor: fullname: Waterman, M.R. – volume: 36 start-page: 715 year: 1973 end-page: 723 ident: b24 publication-title: J. clin. endocrinol. Metab. contributor: fullname: Katz, F.H. – volume: 264 start-page: 2654 year: 1990 end-page: 2659 ident: b1 publication-title: J. Am. med. Assoc. contributor: fullname: Marks, J.S. – volume: 10 start-page: 163 year: 1987 end-page: 194 ident: b18 publication-title: Annu. Rev. Neurosci. contributor: fullname: Nathans, J. – volume: 3 start-page: 255 year: 1989 end-page: 258 ident: b23 publication-title: J. hum. hyperten. contributor: fullname: Murnaghan, D.J. – volume: 95 start-page: 1109 year: 1966 end-page: 1119 ident: b3 publication-title: Can. Med. Assoc. J. contributor: fullname: Laidlaw, J.C. – volume: 78 start-page: 5759 year: 1981 end-page: 5763 ident: b25 publication-title: Proc. natn. Acad. Sci. U.S.A. contributor: fullname: Rutter, W. – volume: 87 start-page: 1664 year: 1991 end-page: 1667 ident: b20 publication-title: J. clin. Invest. contributor: fullname: White, P.C. – volume: 116 start-page: 813 year: 1992 end-page: 820 ident: b9 publication-title: Ann. Int. Med. contributor: fullname: Rich, G.M. – volume: 12 start-page: 185 year: 1986 end-page: 195 ident: b26 publication-title: Som. cell. molec. Genet. contributor: fullname: Paterson, D. – volume: 173 start-page: 309 year: 1990 end-page: 316 ident: b11 publication-title: Biochem. Biophys. Res. Commun. contributor: fullname: Kawamoto, T. – start-page: 81 year: 1990 end-page: 100 ident: b2 article-title: Hypertension: Pathophysiology, Diagnosis and Management contributor: fullname: Ward, R. – volume: 258 start-page: 5498 year: 1983 end-page: 5502 ident: b6 publication-title: J. biol. Chem. contributor: fullname: Land, M.J. – volume: 59 start-page: 1022 year: 1984 end-page: 1024 ident: b7 publication-title: J. clin. endocrinol. Metab. contributor: fullname: Gomez-Sanchez, C.E. – volume: 266 start-page: 10731 year: 1991 end-page: 10734 ident: b12 publication-title: J. biol. Chem. contributor: fullname: Ogishima, T. – volume: 177 start-page: 90 year: 1989 end-page: 94 ident: b28 publication-title: Anal. Biochem. contributor: fullname: Sommer, S.S. – volume: 7 start-page: 131 year: 1990 end-page: 135 ident: b29 publication-title: Genomics, contributor: fullname: Lalouel, J-M. – volume: 96 start-page: 391 year: 1991 end-page: 394 ident: b16 publication-title: Histochemistry contributor: fullname: Yabu, M. – volume: 27 start-page: 300 year: 1967 end-page: 305 ident: b4 publication-title: J. clin. endocrinol. Metab. contributor: fullname: Peterson, R.E. – volume: 22 start-page: 777 end-page: 785 ident: b31 publication-title: Clin Endocrinol. contributor: fullname: Fallo, F. – volume: 65 start-page: 597 year: 1980 end-page: 603 ident: b22 publication-title: Pediatrics contributor: fullname: Weinberger, M.H. – start-page: 102 year: 1990 end-page: 103 ident: b30 publication-title: Genetic Data Analysis contributor: fullname: Weir, B.S. – volume: 64 start-page: 22 year: 1987 end-page: 26 ident: b21 publication-title: J. clin. endocrinol. Metab. contributor: fullname: Scoggins, B.A. – volume: 71 start-page: 1151 year: 1990 end-page: 1157 ident: b8 publication-title: J. clin. endocrinol. Metab. contributor: fullname: Ulick, S. – volume: 132 start-page: 6 year: 1983 end-page: 13 ident: b27 publication-title: Anal. Biochem. contributor: fullname: Vogelstein, B.A. – volume: 355 start-page: 262 year: 1992 end-page: 265 ident: b14 publication-title: Nature contributor: fullname: Lifton, R.P. – volume: 264 start-page: 20961 year: 1989 end-page: 20967 ident: b10 publication-title: J. biol. Chem. contributor: fullname: White, P.C. – volume: 27 start-page: 209 year: 1990 end-page: 228 ident: b19 publication-title: Semin. Hematol. contributor: fullname: Kazazian, H. – volume: 87 start-page: 2725 year: 1990 end-page: 2729 ident: b17 publication-title: Proc. natn. Acad. Sci. U.S.A. contributor: fullname: Bunn, F. – volume: 5 start-page: 874 year: 1989 end-page: 879 ident: b32 publication-title: Genomics contributor: fullname: Hayashi, K. – volume: 84 start-page: 7193 year: 1987 end-page: 7197 ident: b13 publication-title: Proc. natn. Acad. Sci. U.S.A. contributor: fullname: Chua, S.C. – volume: 257 start-page: 2218 year: 1982 end-page: 2224 ident: b5 publication-title: J. biol. Chem. contributor: fullname: Ulick, S.J. – volume: 264 start-page: 2654 year: 1990 ident: BFng099266_CR1 publication-title: J. Am. med. Assoc. doi: 10.1001/jama.1990.03450200062032 contributor: fullname: RA Hahn – volume: 10 start-page: 163 year: 1987 ident: BFng099266_CR18 publication-title: Annu. Rev. Neurosci. doi: 10.1146/annurev.ne.10.030187.001115 contributor: fullname: J Nathans – start-page: 81 volume-title: Hypertension: Pathophysiology, Diagnosis and Management year: 1990 ident: BFng099266_CR2 contributor: fullname: R Ward – volume: 96 start-page: 391 year: 1991 ident: BFng099266_CR16 publication-title: Histochemistry doi: 10.1007/BF00315995 contributor: fullname: M Yabu – volume: 87 start-page: 2725 year: 1990 ident: BFng099266_CR17 publication-title: Proc. natn. Acad. Sci. U.S.A. doi: 10.1073/pnas.87.7.2725 contributor: fullname: G Gilliland – volume: 266 start-page: 10731 year: 1991 ident: BFng099266_CR12 publication-title: J. biol. Chem. doi: 10.1016/S0021-9258(18)99077-0 contributor: fullname: T Ogishima – volume: 71 start-page: 1151 year: 1990 ident: BFng099266_CR8 publication-title: J. clin. endocrinol. Metab. doi: 10.1210/jcem-71-5-1151 contributor: fullname: S Ulick – volume: 5 start-page: 874 year: 1989 ident: BFng099266_CR32 publication-title: Genomics doi: 10.1016/0888-7543(89)90129-8 contributor: fullname: M Orita – volume: 7 start-page: 131 year: 1990 ident: BFng099266_CR29 publication-title: Genomics, doi: 10.1016/0888-7543(90)90530-8 contributor: fullname: RP Lifton – volume: 258 start-page: 5498 year: 1983 ident: BFng099266_CR6 publication-title: J. biol. Chem. doi: 10.1016/S0021-9258(20)81918-8 contributor: fullname: S Ulick – volume: 64 start-page: 22 year: 1987 ident: BFng099266_CR21 publication-title: J. clin. endocrinol. Metab. doi: 10.1210/jcem-64-1-22 contributor: fullname: JR Stockigt – volume: 22 start-page: 777 issue: 6 year: 1985 ident: BFng099266_CR31 publication-title: Clinical Endocrinology doi: 10.1111/j.1365-2265.1985.tb00168.x contributor: fullname: F. FALLO – volume: 65 start-page: 597 year: 1980 ident: BFng099266_CR22 publication-title: Pediatrics doi: 10.1542/peds.65.3.597 contributor: fullname: CE Grim – volume: 78 start-page: 5759 year: 1981 ident: BFng099266_CR25 publication-title: Proc. natn. Acad. Sci. U.S.A. doi: 10.1073/pnas.78.9.5759 contributor: fullname: G Bell – volume: 27 start-page: 300 year: 1967 ident: BFng099266_CR4 publication-title: J. clin. endocrinol. Metab. doi: 10.1210/jcem-27-2-300 contributor: fullname: MI New – volume: 257 start-page: 2218 year: 1982 ident: BFng099266_CR5 publication-title: J. biol. Chem. doi: 10.1016/S0021-9258(18)34909-3 contributor: fullname: MD Chu – volume: 36 start-page: 715 year: 1973 ident: BFng099266_CR24 publication-title: J. clin. endocrinol. Metab. doi: 10.1210/jcem-36-4-715 contributor: fullname: GS Giebink – volume: 12 start-page: 185 year: 1986 ident: BFng099266_CR26 publication-title: Som. cell. molec. Genet. doi: 10.1007/BF01560665 contributor: fullname: K Gardiner – volume: 27 start-page: 209 year: 1990 ident: BFng099266_CR19 publication-title: Semin. Hematol. contributor: fullname: H Kazazian – volume: 3 start-page: 255 year: 1989 ident: BFng099266_CR23 publication-title: J. hum. hyperten. contributor: fullname: S O'Mahony – volume: 177 start-page: 90 year: 1989 ident: BFng099266_CR28 publication-title: Anal. Biochem. doi: 10.1016/0003-2697(89)90019-5 contributor: fullname: DB Schowalter – volume: 84 start-page: 7193 year: 1987 ident: BFng099266_CR13 publication-title: Proc. natn. Acad. Sci. U.S.A. doi: 10.1073/pnas.84.20.7193 contributor: fullname: SC Chua – volume: 87 start-page: 1664 year: 1991 ident: BFng099266_CR20 publication-title: J. clin. Invest. doi: 10.1172/JCI115182 contributor: fullname: PC White – ident: BFng099266_CR30 – volume: 95 start-page: 1109 year: 1966 ident: BFng099266_CR3 publication-title: Can. Med. Assoc. J. contributor: fullname: DJ Sutherland – volume: 132 start-page: 6 year: 1983 ident: BFng099266_CR27 publication-title: Anal. Biochem. doi: 10.1016/0003-2697(83)90418-9 contributor: fullname: AP Feinberg – volume: 264 start-page: 20961 year: 1989 ident: BFng099266_CR10 publication-title: J. biol. Chem. doi: 10.1016/S0021-9258(19)30030-4 contributor: fullname: E Mornet – volume: 355 start-page: 262 year: 1992 ident: BFng099266_CR14 publication-title: Nature doi: 10.1038/355262a0 contributor: fullname: RP Lifton – volume: 173 start-page: 309 year: 1990 ident: BFng099266_CR11 publication-title: Biochem. Biophys. Res. Commun. doi: 10.1016/S0006-291X(05)81058-7 contributor: fullname: T Kawamoto – volume: 59 start-page: 1022 year: 1984 ident: BFng099266_CR7 publication-title: J. clin. endocrinol. Metab. doi: 10.1210/jcem-59-5-1022 contributor: fullname: CE Gomez-Sanchez – volume: 116 start-page: 813 year: 1992 ident: BFng099266_CR9 publication-title: Ann. Int. Med. doi: 10.7326/0003-4819-116-10-813 contributor: fullname: GM Rich – volume: 50 start-page: 427 year: 1988 ident: BFng099266_CR15 publication-title: Annu. Rev. Physiol. doi: 10.1146/annurev.ph.50.030188.002235 contributor: fullname: ER Simpson |
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| Snippet | Patients with glucocorticoid-remediable aldosteronism (GRA) from 12 kindreds possess chimaeric gene duplications arising from unequal crossing-over, fusing... |
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| SubjectTerms | aldosterone synthase Alleles Base Sequence Chimera - genetics chimeras Crossing Over, Genetic Cytochrome P-450 CYP11B2 Cytochrome P-450 Enzyme System - genetics DNA - genetics duplication Female Gene Expression genes glucocorticoid-remediable aldosteronism Haplotypes - genetics Humans hypertension Hypertension - genetics Linkage Disequilibrium Male man Molecular Sequence Data Multigene Family Pedigree Steroid 11-beta-Hydroxylase - genetics Steroid Hydroxylases - genetics |
| Title | Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase |
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