Genes and environment: novel, functional polymorphism in the human cathepsin L (CTSL1) promoter disrupts a xenobiotic response element (XRE) to alter transcription and blood pressure

Hyung-Suk Kim, Daniel T. O'Connor, Ryan S. Friese, Jill Waalen, Nzali Mbewe-Campbell, Kuixing Zhang, Manjula Mahata, Fangwen Rao, Stephane Chiron, Caroline M. Nievergelt, Sushil K. Mahata, Andrew J. Schork (+3 others)
Cathepsin L (CTSL1) catalyzes the formation of peptides that influence blood pressure (BP). Naturally occurring genetic variation or targeted ablation of the Ctsl1 locus in mice yield cardiovascular pathology. Here, we searched for genetic variation across the human CTSL1 locus and probed its functional effects, especially in the proximal promoter.
doi:10.17615/9za6-km91 fatcat:z2xhnbwjw5b6femugubb4rrm3u