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dc.contributor.authorGolem, Scott Matthew Bradley
dc.date.accessioned2013-08-07T20:16:47Z
dc.date.available2013-12-06T10:00:04Z
dc.date.issued2013-08-07
dc.identifier.urihttp://hdl.handle.net/10464/4743
dc.description.abstractHuman endogenous retroviruses (HERVs) are the result of ancient germ cell infections of human germ cells by exogenous retroviruses. HERVs belong to the long terminal repeat (LTR) group of retrotransposons that comprise ~8% of the human genome. The majority of the HERVs documented have been truncated and/or incurred lethal mutations and no longer encode functional genes; however a very small number of HERVs seem to maintain functional in making new copies by retrotranspositon as suggested by the identification of a handful of polymorphic HERV insertions in human populations. The objectives of this study were to identify novel insertion of HERVs via analysis of personal genomic data and survey the polymorphism levels of new and known HERV insertions in the human genome. Specifically, this study involves the experimental validation of polymorphic HERV insertion candidates predicted by personal genome-based computation prediction and survey the polymorphism level within the human population based on a set of 30 diverse human DNA samples. Based on computational analysis of a limited number of personal genome sequences, PCR genotyping aided in the identification of 15 dimorphic, 2 trimorphic and 5 fixed full-length HERV-K insertions not previously investigated. These results suggest that the proliferation rate of HERVKs, perhaps also other ERVs, in the human genome may be much higher than we previously appreciated and the recently inserted HERVs exhibit a high level of instability. Throughout this study we have observed the frequent presence of additional forms of genotypes for these HERV insertions, and we propose for the first time the establishment of new genotype reporting nomenclature to reflect all possible combinations of the pre-integration site, solo-LTR and full-length HERV alleles.en_US
dc.language.isoengen_US
dc.publisherBrock Universityen_US
dc.subjectHERVen_US
dc.subjectClassification Nomenclatureen_US
dc.subjectHuman Endogenous Retrovirusen_US
dc.subjectInsertionen_US
dc.subjectPolymorphismen_US
dc.titleHuman Endogenous Retrovirus (HERV) Insertional Polymorphismsen_US
dc.typeElectronic Thesis or Dissertationen_US
dc.degree.nameM.Sc. Biotechnologyen_US
dc.degree.levelMastersen_US
dc.contributor.departmentCentre for Biotechnologyen_US
dc.degree.disciplineFaculty of Mathematics and Scienceen_US
dc.embargo.terms4 Monthsen_US
refterms.dateFOA2021-08-03T02:17:47Z


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