DR. KEITH A CHOATE, M.D., PH.D.
Dermatology at Church St, New Haven, CT

2003008, May 1, 2003

Jul 17, 2002

10/196935

Richard Lifton - Guilford CT, US
Frederick Wilson - New Haven CT, US
Keith Choate - New Haven CT, US
Carol Nelson-Williams - Hamden CT, US
Kazuhiko Ishikawa - Toyonaka City, JP

C12N009/12, C07H021/04, C12P021/02, C12N005/06

435/069100, 435/194000, 435/320100, 435/325000, 536/023200

The present invention relates to novel nucleic acids encoding a mammalian WNK, and proteins encoded thereby, preferably, human WNK1 and human WNK4. These novel nucleic acids, and mutant forms thereof, are associated with, inter alia, renal electrolyte handling, hypertension, and pseudohypoaldosterism type II (PHA II). That is, the present invention relates to novel mutations (e.g., deletions and missense mutations in an exon, intron, or both, of a nucleic acid encoding a WNK) that mediate and/or are associated with altered expression, among other things. These mutations are, in turn, associated with and/or mediate disease (e.g., hypertension, PHA II, and the like). Thus, these nucleic acids provide a novel target for treatment, diagnosis, and development of therapeutics to treat these diseases.