Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase

  title={Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase},
  author={Richard P. Lifton and Robert G. Dluhy and M. Powers and Glenn M. Rich and M. Gutkin and F. Fallo and J. Gill and L. Feld and A. Ganguly and Jack C. Laidlaw and D. Murnaghan and C. Kaufman and Jan R. Stockigt and S. Ulick and J. Lalouel},
  journal={Nature Genetics},
  • Richard P. Lifton, Robert G. Dluhy, +12 authors J. Lalouel
  • Published 1992
  • Biology, Medicine
  • Nature Genetics
  • Patients with glucocorticoid–remediable aldosteronism (GRA) from 12 kindreds possess chimaeric gene duplications arising from unequal crossing–over, fusing regulatory sequences of steroid 11β–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… CONTINUE READING
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