Characterization of Different Isoforms of the K+-dependent Na+- Ca2+ Exchangers: A Look into Ca2+ Coordination and Functional Consequences of Mutations Associated with Different Genetic Diseases

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atmire.migration.oldid4365
dc.contributor.advisorSchnetkamp, Paul
dc.contributor.authorJalloul, Ali
dc.contributor.committeememberBraun, Andrew
dc.contributor.committeememberAltier, Christophe
dc.contributor.committeememberTrang, Tuan
dc.contributor.committeememberChen, S. R. Wayne
dc.date.accessioned2016-05-03T15:48:29Z
dc.date.available2016-05-03T15:48:29Z
dc.date.issued2016
dc.date.submitted2016en
dc.description.abstractK+-dependent Na+-Ca2+ exchangers (NCKXs) belong to the Solute Carrier 24 gene family of membrane transporters. Five different exchangers have been identified in humans and contribute to many biological processes including vision, enamel maturation, Melanocortin-4-receptor-dependent satiety, olfaction and skin pigmentation. Here, I examined the differences in cation coordination of NCKX1-4 and tested the effect of single residue substitutions in the α-repeats on Ca2+ affinity in NCKX2. In addition, I investigated the functional consequences of mutations in different NCKX genes associated with genetic diseases. I measured NCKX-mediated Ca2+ transport activity of WT and mutant NCKX proteins while manipulating external or internal ion concentrations. I concluded that the differences observed among these exchangers do not explain the variation in their tissue distribution. Also, 13 single residue substitutions significantly lowered Ca2+ affinity in NCKX2. Moreover, the functional data presented about the mutations associated with genetic diseases support that the genetic analysis describing these mutations.en_US
dc.identifier.citationJalloul, A. (2016). Characterization of Different Isoforms of the K+-dependent Na+- Ca2+ Exchangers: A Look into Ca2+ Coordination and Functional Consequences of Mutations Associated with Different Genetic Diseases (Master's thesis, University of Calgary, Calgary, Canada). Retrieved from https://prism.ucalgary.ca. doi:10.11575/PRISM/25272en_US
dc.identifier.doihttp://dx.doi.org/10.11575/PRISM/25272
dc.identifier.urihttp://hdl.handle.net/11023/2940
dc.language.isoeng
dc.publisher.facultyGraduate Studies
dc.publisher.institutionUniversity of Calgaryen
dc.publisher.placeCalgaryen
dc.rightsUniversity of Calgary graduate students retain copyright ownership and moral rights for their thesis. You may use this material in any way that is permitted by the Copyright Act or through licensing that has been assigned to the document. For uses that are not allowable under copyright legislation or licensing, you are required to seek permission.
dc.subjectGenetics
dc.subjectBiology--Molecular
dc.subjectNeuroscience
dc.subjectDentistry
dc.subjectBiochemistry
dc.subject.classificationSodium Calcium Exchangeren_US
dc.subject.classificationNCKX proteinsen_US
dc.subject.classificationFluorescent Assaysen_US
dc.subject.classificationIon affinityen_US
dc.subject.classificationmutagenesis Analysisen_US
dc.subject.classificationgenetic diseasesen_US
dc.titleCharacterization of Different Isoforms of the K+-dependent Na+- Ca2+ Exchangers: A Look into Ca2+ Coordination and Functional Consequences of Mutations Associated with Different Genetic Diseases
dc.typemaster thesis
thesis.degree.disciplineNeuroscience
thesis.degree.grantorUniversity of Calgary
thesis.degree.nameMaster of Science (MSc)
ucalgary.item.requestcopytrue
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