| First Author | Wilson FH | Year | 2001 |
| Journal | Science | Volume | 293 |
| Issue | 5532 | Pages | 1107-12 |
| PubMed ID | 11498583 | Mgi Jnum | J:114792 |
| Mgi Id | MGI:3690170 | Doi | 10.1126/science.1062844 |
| Citation | Wilson FH, et al. (2001) Human hypertension caused by mutations in WNK kinases. Science 293(5532):1107-12 |
| abstractText | Hypertension is a major public health problem of largely unknown cause. Here, we identify two genes causing pseudohypoaldosteronism type II, a Mendelian trait featuring hypertension, increased renal salt reabsorption, and impaired K+ and H+ excretion. Both genes encode members of the WNK family of serine-threonine kinases. Disease-causing mutations in WNK1 are large intronic deletions that increase WNK1 expression. The mutations in WNK4 are missense, which cluster in a short, highly conserved segment of the encoded protein. Both proteins localize to the distal nephron, a kidney segment involved in salt, K+, and pH homeostasis. WNK1 is cytoplasmic, whereas WNK4 localizes to tight junctions. The WNK kinases and their associated signaling pathway(s) may offer new targets for the development of antihypertensive drugs. |
