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ORCID
https://orcid.org/0000-0002-6918-9695
Access Type
Open Access Thesis
Document Type
thesis
Degree Program
Molecular & Cellular Biology
Degree Type
Master of Science (M.S.)
Year Degree Awarded
2020
Month Degree Awarded
May
Abstract
Background: Infertility has become a growing concern across the world as cases continue to increase each year. Research has now shifted to identifying novel biomarkers to predict male fertility. While mtDNAcn has recently been found to show promising results as potential biomarker, its regulation remains unclear.
Method: Triplex probe-based PCR was used to quantify mtDNA levels, while 850K Array was used to measure methylation levels. A-clustering algorithm followed by generalized estimating equations (GEE) lead to clustering of individual CpG sites, containing a minimum of 2 CpGs within 1000 base pairs of each other. These clusters were used for analysis of the association between mtDNAcn and DNA methylation within sperm. Metascape1 was used to annotate gene ontology terms.
Result: Generalized estimating equation model analysis produced 6,038 FDR significant (q
Conclusion: Thus, we show that sperm mtDNAcn is strongly associated with sperm DNA methylation and the associated implicates mtDNAcn as an influence on infertility.
DOI
https://doi.org/10.7275/17963432
First Advisor
Richard Pilsner
Second Advisor
Alexander Suvorov
Third Advisor
Kathleen Arcaro
Creative Commons License
This work is licensed under a Creative Commons Attribution-No Derivative Works 4.0 License.
Recommended Citation
Houle, Emily, "The Association Between Sperm DNA Methylation and Sperm Mitochondrial DNA Copy Number" (2020). Masters Theses. 950.
https://doi.org/10.7275/17963432
https://scholarworks.umass.edu/masters_theses_2/950