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Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase.
Lifton RP,
Dluhy RG,
Powers M,
Rich GM,
Gutkin M,
Fallo F,
Gill JR Jr,
Feld L,
Ganguly A,
Laidlaw JC, et al.
Howard Hughes Medical Institute, University of Utah, Salt Lake City 84112.
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.
PMID: 1303253 [PubMed - indexed for MEDLINE]
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Cited by 13 PubMed Central articles
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Invalidation of TASK1 potassium channels disrupts adrenal gland zonation and mineralocorticoid homeostasis.
Heitzmann D, Derand R, Jungbauer S, Bandulik S, Sterner C, Schweda F, El Wakil A, Lalli E, Guy N, Mengual R, et al.
EMBO J. 2008 Jan 9; 27(1):179-87. Epub 2007 Nov 22.
[EMBO J. 2008]
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Studies on the origin of circulating 18-hydroxycortisol and 18-oxocortisol in normal human subjects.
Freel EM, Shakerdi LA, Friel EC, Wallace AM, Davies E, Fraser R, Connell JM.
J Clin Endocrinol Metab. 2004 Sep; 89(9):4628-33.
[J Clin Endocrinol Metab. 2004]
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A new essential hypertension susceptibility locus on chromosome 2p24-p25, detected by genomewide search.
Angius A, Petretto E, Maestrale GB, Forabosco P, Casu G, Piras D, Fanciulli M, Falchi M, Melis PM, Palermo M, et al.
Am J Hum Genet. 2002 Oct; 71(4):893-905. Epub 2002 Sep 12.
[Am J Hum Genet. 2002]
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