eCommons

 

THE ROLE OF DNA REPLICATION TIMING IN GERMLINE MUTATION ACCUMULATION

dc.contributor.authorHulke, Michelle Lauren
dc.contributor.chairKoren, Amnon
dc.contributor.committeeMemberSchimenti, John C.
dc.contributor.committeeMemberAlani, Eric
dc.date.accessioned2021-03-12T17:38:25Z
dc.date.available2021-03-12T17:38:25Z
dc.date.issued2020-08
dc.description99 pages
dc.description.abstractDNA replication timing is a highly regulated, cell type-specific process that is associated with mutation accumulation. The developmental plasticity of replication timing complicates this relationship, however. In this work, I analyzed the locations of germline mutations in relation to replication timing profiles at five developmental stages in zebrafish to investigate how replication timing plasticity relates to germline mutation accumulation. Single nucleotide polymorphisms (SNPs) were enriched within regions of developmentally-stable replication timing, while copy number variants (CNVs) were enriched within regions with progressively later replication timing throughout development. CNVs with developmentallyplastic replication timing were also enriched within the protocadherin gene clusters, suggesting that replication timing plasticity, not just the replication timing at one developmental stage, may play a role in mutation accumulation bias and permit mutation accumulation within evolutionarily-advantageous regions.
dc.identifier.doihttps://doi.org/10.7298/scks-bb90
dc.identifier.otherHulke_cornellgrad_0058F_12110
dc.identifier.otherhttp://dissertations.umi.com/cornellgrad:12110
dc.identifier.urihttps://hdl.handle.net/1813/102890
dc.language.isoen
dc.subjectCopy Number Variants
dc.subjectDevelopment
dc.subjectDNA Replication Timing
dc.subjectGermline Mutations
dc.subjectSingle Nucleotide Polymorphisms
dc.subjectZebrafish
dc.titleTHE ROLE OF DNA REPLICATION TIMING IN GERMLINE MUTATION ACCUMULATION
dc.typedissertation or thesis
dcterms.licensehttps://hdl.handle.net/1813/59810
thesis.degree.disciplineGenetics, Genomics and Development
thesis.degree.grantorCornell University
thesis.degree.levelDoctor of Philosophy
thesis.degree.namePh. D., Genetics, Genomics and Development

Files

Original bundle
Now showing 1 - 1 of 1
Loading...
Thumbnail Image
Name:
Hulke_cornellgrad_0058F_12110.pdf
Size:
2.96 MB
Format:
Adobe Portable Document Format