Material Type  

 학위논문

 

0017162584

Date and Time of Latest Transaction  

20250211152029

ISBN  

9798384424437

DDC  

540

Author  

Vasquez, Carlos Anthony.

Title/Author  

Functional Characterization of DNA Repair Gene Variants in Live Cells Enabled Through Precision Genome Editing, Chemical Biology, and Biochemical Tools.

Publish Info  

[S.l.] : University of California, San Diego., 2024

Publish Info  

Ann Arbor : ProQuest Dissertations & Theses, 2024

Material Info  

138 p.

General Note  

Source: Dissertations Abstracts International, Volume: 86-03, Section: B.

General Note  

Advisor: Komor, Alexis.

학위논문주기  

Thesis (Ph.D.)--University of California, San Diego, 2024.

Abstracts/Etc  

요약Progress in next-generation sequencing (NGS) technologies has streamlined the detection of human genetic variations, and the identification of clinically actionable genes and pathogenic mutations has transformed precision medicine. However, only a small fraction of identified human genetic variants have been assigned a clinical classification or functionally characterized. This highlights the importance of investigating genetic variants and obtaining mechanistic insight into disease etiology and progression. Base editing is a new precision genome editing methodology that utilizes native DNA repair pathways within living cells to either fix or install genetic variants. In Chapter 2, we detail our findings which aim to provide an optimized protocol in utilizing base editing technology. Then in Chapter 3, we detail how we harness base editing to overcome many of the limitations of traditional genome editing to generate both homozygous and heterozygous isogenic cell lines of four MUTYH variants. To date, these were the first reports of successful generation of isogenic cell lines containing MUTYH variants and also the first to functionally characterize them within living cells. Finally, in Chapter 4, non-thesis-related university service garnered throughout the primary author and researcher's tenure is briefly discussed as this work has also led to both personal and professional advances.

Subject Added Entry-Topical Term  

Chemistry.

Subject Added Entry-Topical Term  

Cellular biology.

Subject Added Entry-Topical Term  

Biochemistry.

Subject Added Entry-Topical Term  

Genetics.

Index Term-Uncontrolled  

Next-generation sequencing

Index Term-Uncontrolled  

Human genetic variations

Index Term-Uncontrolled  

Live cells

Index Term-Uncontrolled  

Isogenic cell

Added Entry-Corporate Name  

University of California, San Diego Chemistry and Biochemistry

Host Item Entry  

Dissertations Abstracts International. 86-03B.

Electronic Location and Access  

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Control Number  

joongbu:658268