Open Access. Powered by Scholars. Published by Universities.®

Biology Commons

Open Access. Powered by Scholars. Published by Universities.®

Articles 1 - 3 of 3

Full-Text Articles in Biology

Degradation By Cullin 3 And Effect On Wnk Kinases Suggest A Role Of Klhl2 In The Pathogenesis Of Familial Hyperkalemic Hypertension, Chong Zhang, Nicholas P. Meermeier, Andrew Terker, Katharina I. Blankenstein, Jeffrey D. Singer, Juliette Hadchouel, David Ellison, Chao-Ling Yang Nov 2015

Degradation By Cullin 3 And Effect On Wnk Kinases Suggest A Role Of Klhl2 In The Pathogenesis Of Familial Hyperkalemic Hypertension, Chong Zhang, Nicholas P. Meermeier, Andrew Terker, Katharina I. Blankenstein, Jeffrey D. Singer, Juliette Hadchouel, David Ellison, Chao-Ling Yang

Biology Faculty Publications and Presentations

Mutations in WNK1 and WNK4, and in components of the Cullin-Ring Ligase system, kelch-like 3 (KLHL3) and Cullin 3 (CUL3), can cause the rare hereditary disease, Familial Hyperkalemic Hypertension (FHHt). The disease is characterized by overactivity of the renal sodium chloride cotransporter (NCC), which is phosphorylated and activated by the WNK-stimulated Ste20-type kinases, SPAK and OSR1. WNK kinases themselves can be targeted for ubiquitination and degradataion by the CUL3-KLHL3 E3 ubiquitin ligase complex. It is unclear, however, why there are significant differences in phenotypic severity among FHHt patients with mutations in different genes. It was reported that kelch-like 2 (KLHL2), …


Recbcd Is Required To Complete Chromosomal Replication: Implications For Double- Strand Break Frequencies And Repair Mechanisms, Justin Courcelle, Brian M. Wendel, Dena D. Livingstone, Charmain T. Courcelle May 2015

Recbcd Is Required To Complete Chromosomal Replication: Implications For Double- Strand Break Frequencies And Repair Mechanisms, Justin Courcelle, Brian M. Wendel, Dena D. Livingstone, Charmain T. Courcelle

Biology Faculty Publications and Presentations

Several aspects of the mechanism of homologous double strand break repair remain unclear. Although intensive efforts have focused on how recombination reactions initiate, far less is known about the molecular events that follow. Based upon biochemical studies, current models propose that RecBCD processes double strand ends and loads RecA to initiate recombinational repair. However, recent studies have shown that RecBCD plays a critical role in completing replication events on the chromosome through a mechanism that does not involve RecA or recombination. Here, we examine several studies, both early and recent, that suggest RecBCD also operates late in the recombination process- …


Phenotypic And Mutational Consequences Of Mitochondrial Etc Genetic Damage, Michael James Lue Mar 2015

Phenotypic And Mutational Consequences Of Mitochondrial Etc Genetic Damage, Michael James Lue

Dissertations and Theses

Genetic mutation is the ultimate source of new phenotypic variation in populations. The importance of mutation cannot be understated, and constitutes a significant evolutionary force. Although single mutations may have little to no impact on organismal performance or fitness, when multiplied across the total number of potential sites within the genome, mutation can have a large impact. Accurate measurement of the rates, molecular mechanisms, and distributions of effects of mutations are critical for many applications of evolutionary theory. Despite the importance of both deleterious and beneficial mutations, their genome-wide patterns and phenotypic consequences are poorly understood when considering the mitochondrial …