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Three Dimensional Structure and Human Genetic Variants of PMS1 Protein; Potential Medical Consequences Due to Inefficient DNA Mistmatch Repair

Film , Sydney T
http://rave.ohiolink.edu/etdc/view?acc_num=walshhonors1555695424580962

Abstract Details

2019, Bachelor of Science, Walsh University, Honors.
The human protein PMS1 is a protein that functions in DNA mismatch repair. PMS1 is part of the High Motility Group Protein family (HMG proteins). Using homology modeling in YASARA, a 3-dimensional structure of the PMS1 protein was produced and the structure was verified as realistic using molecular dynamics. Using Evolutionary Analysis in an online program called ConSurf identified the high and low conservative regions of the PMS1 protein. Sequences with high conservation scores indicate important structural and functional aspects of the proteins. Using the GNOMAD database, human variants of the protein were found with a focus placed on those that caused missense, loss of function and frameshift mutations which can be found in the 3-dimensional structure. Where these proteins are found will be at the sites of phenotypical consequences from mutation. Using the Human Protein Atlas, PMS1 was found in all cells. However, it is most common in cells with a high reproductivity rate, like cells in the digestive tract. Malfunctioning of PMS1 leads to genome instability and more frequent mutations, which can cause genetic defects or cancers. The Catalogue of Somatic Mutation in Cancer (COSMIC) was used to identify cancer related mutations of PMS1, such as colorectal cancer. It is hoped that this sequence to structure to function to phenotype approach will contribute to the future of genomic medicine.
Thomas Freeland , B.S., M.S. Ph.D (Advisor)
Adam Underwood , B.S., M.S., Ph.D (Other)
52 p.
Biology
PMS1; bioinformatics; genomic medicine; DNA mismatch repair; DNA mmr; colorectal cancer

Recommended Citations

Citations

  • Film , S. T. (2019). Three Dimensional Structure and Human Genetic Variants of PMS1 Protein; Potential Medical Consequences Due to Inefficient DNA Mistmatch Repair [Undergraduate thesis, Walsh University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=walshhonors1555695424580962

    APA Style (7th edition)

  • Film , Sydney . Three Dimensional Structure and Human Genetic Variants of PMS1 Protein; Potential Medical Consequences Due to Inefficient DNA Mistmatch Repair . 2019. Walsh University, Undergraduate thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=walshhonors1555695424580962.

    MLA Style (8th edition)

  • Film , Sydney . "Three Dimensional Structure and Human Genetic Variants of PMS1 Protein; Potential Medical Consequences Due to Inefficient DNA Mistmatch Repair ." Undergraduate thesis, Walsh University, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=walshhonors1555695424580962

    Chicago Manual of Style (17th edition)

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© 2019, all rights reserved.
This open access ETD is published by Walsh University Honors Theses and OhioLINK.