자료유형  

 학위논문

Control Number  

0017162584

International Standard Book Number  

9798384424437

Dewey Decimal Classification Number  

540

Main Entry-Personal Name  

Vasquez, Carlos Anthony.

Publication, Distribution, etc. (Imprint  

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

Publication, Distribution, etc. (Imprint  

Ann Arbor : ProQuest Dissertations & Theses, 2024

Physical Description  

138 p.

General Note  

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

General Note  

Advisor: Komor, Alexis.

Dissertation Note  

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

Summary, 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