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Novel Missense TEX15 Variant Case Study

Pombar, Christopher RX (2022) Novel Missense TEX15 Variant Case Study. Master's Thesis, University of Pittsburgh. (Unpublished)

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Male infertility is a public health issue that does not receive enough attention. Approximately 7% of all men across the globe suffer from infertility. Given the how little focus this public health issue is given, there are many gaps in our understanding of the many causes behind male infertility. The goal of our study is to identify novel genes or variants that cause male infertility in idiopathic cases. Using Whole Exome Sequencing, we examined one family by comparing the proband to his parents and unaffected brother to identify the most likely causal variant in conjunction with numerous prediction tools and databases. We identified a missense mutation (c.5974A>G, p.Ala2279Thr) in TEX15, a gene on chromosome 8 that has been previously associated with male infertility. We continued to examine literature related to TEX15, and eventually propose the gene’s relationship with male infertility.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Pombar, Christopher RXcrp73@pitt.eduCRP730000-0003-0555-6123
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairYatsenko, Alexanderany23@pitt.eduany23
Committee ChairDemirci, F. Yesimfyd1@pitt.edufyd1
Committee MemberDiergaarde, Brendabbd3@pitt.edubbd3
Date: 12 May 2022
Date Type: Publication
Defense Date: 20 April 2022
Approval Date: 12 May 2022
Submission Date: 26 April 2022
Access Restriction: 2 year -- Restrict access to University of Pittsburgh for a period of 2 years.
Number of Pages: 41
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Human Genetics
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: In_Silico
Date Deposited: 12 May 2022 14:06
Last Modified: 12 May 2022 14:06


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