VARIANTS OF NEDD4L ASSOCIATED WITH HYPERTENSION AND VIRAL BUDDING

摘要

Disclosed are compositions and methods related to NEDD4L, a ubiquitin ligase, and hypertension as well as viral budding. A systematic search for genetic polymorphism was conducted by resequencing exon and intron boundaries in human genomic DNA. Isoforms encoding a Ca <2+>-dependent lipid binding C2 domain at the N-terminus of NEDD4L were identified. Additional isoforms lacing the Cdependent lipid binding C2 domain were also identified. A common polymorphism was identified, Variant 13, with either G (70%) or A (30%) as the last nucleotide of exon 1, which effects splice site function and formation of the C-dependent lipid binding C2 domain. Identified isoforms are present in both kidney and adrenal samples.