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Determination of the Structure of Human Testis Protein Maelstrom and Examination of Functional Differences among Human Genome Variants

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2019, Bachelor of Science, Walsh University, Honors.
Surrounding the nuclei of germ-line cells in Drosophila, mice, and other animals is an electron-dense structure called nuage, which is electron-dense due to the amount of proteins accumulated in the region. Nuage is localized to the cytoplasmic face of the nuclear envelope and is involved in the RNA interference (RNAi) pathway, which is important for transposable element (TE) regulation in germ-line cells. The RNAi pathway is connected to the Piwi-interacting (piRNA) pathway, which regulates transposable elements in the testes of male animals. The PIWI proteins, MILI and MIWI (located in mice), interact with the protein maelstrom (MAEL) in nuage, which is required for maintenance of piRNAs and TE repression. MAEL has the ability to shuttle between the nucleus and cytoplasm and is believed to have a connection to the piRNA pathway further along in the process, shuttling the piRNA proteins along with them into the nucleus from nuage. MAEL is located exclusively in testes in mammals, but was found in the ovum of Drosophila melanogaster. Using YASARA and Raptor X, a valid structure of MAEL was created through homology modeling and validated using molecular dynamics. The conservation of the individual amino acids in MAEL was also studied, as well as the relationship between amino acid conservation and movement. The conclusion was reached that amino acids with high mobility are not highly evolutionarily conserved unless their mobility is important for the function of the MAEL protein. Finally, the variants of mael were studied to determine which of them were consequential for the structure and function of MAEL. The information found on these variants can be used in future genomic medicine to preserve fertility in males.
Thomas Freeland, Dr (Advisor)
Adam Underwood, Dr (Other)
Ty Hawkins, Dr (Committee Chair)
42 p.

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Citations

  • Wobser, M. J. (2019). Determination of the Structure of Human Testis Protein Maelstrom and Examination of Functional Differences among Human Genome Variants [Undergraduate thesis, Walsh University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=walshhonors1555605939425746

    APA Style (7th edition)

  • Wobser, Madison . Determination of the Structure of Human Testis Protein Maelstrom and Examination of Functional Differences among Human Genome Variants. 2019. Walsh University, Undergraduate thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=walshhonors1555605939425746.

    MLA Style (8th edition)

  • Wobser, Madison . "Determination of the Structure of Human Testis Protein Maelstrom and Examination of Functional Differences among Human Genome Variants." Undergraduate thesis, Walsh University, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=walshhonors1555605939425746

    Chicago Manual of Style (17th edition)