Determination of the Structure of Human Testis Protein Maelstrom and Examination of Functional Differences among Human Genome Variants
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2019
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ndltd-OhioLink-oai-etd.ohiolink.edu-walshhonors15556059394257462021-08-03T07:10:29Z Determination of the Structure of Human Testis Protein Maelstrom and Examination of Functional Differences among Human Genome Variants Wobser, Madison June Bioinformatics 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. 2019-04-30 English text Walsh University Honors Theses / OhioLINK http://rave.ohiolink.edu/etdc/view?acc_num=walshhonors1555605939425746 http://rave.ohiolink.edu/etdc/view?acc_num=walshhonors1555605939425746 unrestricted This thesis or dissertation is protected by copyright: all rights reserved. It may not be copied or redistributed beyond the terms of applicable copyright laws. |
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NDLTD |
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English |
| sources |
NDLTD |
| topic |
Bioinformatics |
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Bioinformatics Wobser, Madison June Determination of the Structure of Human Testis Protein Maelstrom and Examination of Functional Differences among Human Genome Variants |
| author |
Wobser, Madison June |
| author_facet |
Wobser, Madison June |
| author_sort |
Wobser, Madison June |
| title |
Determination of the Structure of Human Testis Protein Maelstrom and Examination of Functional Differences among Human Genome Variants |
| title_short |
Determination of the Structure of Human Testis Protein Maelstrom and Examination of Functional Differences among Human Genome Variants |
| title_full |
Determination of the Structure of Human Testis Protein Maelstrom and Examination of Functional Differences among Human Genome Variants |
| title_fullStr |
Determination of the Structure of Human Testis Protein Maelstrom and Examination of Functional Differences among Human Genome Variants |
| title_full_unstemmed |
Determination of the Structure of Human Testis Protein Maelstrom and Examination of Functional Differences among Human Genome Variants |
| title_sort |
determination of the structure of human testis protein maelstrom and examination of functional differences among human genome variants |
| publisher |
Walsh University Honors Theses / OhioLINK |
| publishDate |
2019 |
| url |
http://rave.ohiolink.edu/etdc/view?acc_num=walshhonors1555605939425746 |
| work_keys_str_mv |
AT wobsermadisonjune determinationofthestructureofhumantestisproteinmaelstromandexaminationoffunctionaldifferencesamonghumangenomevariants |
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1719455530504683520 |