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Mitochondrial DNA

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Cover of 'Mitochondrial DNA'

Table of Contents

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    Book Overview
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    Chapter 1 Isolation of Functional Mitochondria and Pure mtDNA from Murine Tissues
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    Chapter 2 Isolating Mitochondria, Mitoplasts, and mtDNA from Cultured Mammalian Cells.
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    Chapter 3 Coupling Differential Centrifugation with Exonuclease Treatment and Size Exclusion Chromatography (DIFSEC) for Purification of mtDNA from Mammalian Cells
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    Chapter 4 Isolation and Quality Control of Yeast Mitochondria
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    Chapter 5 Mitochondrial DNA Isolation from Plants.
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    Chapter 6 Visualize the Distribution and Dynamics of Mitochondrial DNA (mtDNA) Nucleoids with Multiple Labeling Strategies
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    Chapter 7 Visualization of mtDNA Using FISH
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    Chapter 8 In Situ Analysis of Mitochondrial DNA Synthesis Using Metabolic Labeling Coupled to Fluorescence Microscopy.
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    Chapter 9 Measurement of Nucleoid Size Using STED Microscopy.
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    Chapter 10 How to Quantify DNA Compaction by TFAM with Acoustic Force Spectroscopy and Total Internal Reflection Fluorescence Microscopy
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    Chapter 11 Assessing TFAM Binding to Human Mitochondrial DNA
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    Chapter 12 Identification of Proximity Interactors of Mammalian Nucleoid Proteins by BioID
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    Chapter 13 Localization of Mitochondrial Nucleoids by Transmission Electron Microscopy Using the Transgenic Expression of the Mitochondrial Helicase Twinkle and APEX2
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    Chapter 14 In Vitro Assays of TWINKLE Function
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    Chapter 15 Rolling Circle Replication and Bypass of Damaged Nucleotides
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    Chapter 16 Studying Mitochondrial Nucleic Acid Synthesis Utilizing Intact Isolated Mitochondria
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    Chapter 17 Functional Assessment of Mitochondrial DNA Maintenance by Depletion and Repopulation Using 2’,3’-Dideoxycytidine in Cultured Cells
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    Chapter 18 Analysis of Mitochondrial DNA Replication by Two-Dimensional Agarose Gel Electrophoresis
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    Chapter 19 Quantitative Analysis of Nucleoside Triphosphate Pools in Mouse Muscle Using Hydrophilic Interaction Liquid Chromatography Coupled with Tandem Mass Spectrometry Detection
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    Chapter 20 Detection of UV-Induced Deletions in Mitochondrial DNA
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    Chapter 21 Determination of the Ribonucleotide Content of mtDNA Using Alkaline Gels
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    Chapter 22 5′-End Mapping in Human Mitochondrial DNA
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    Chapter 23 Manipulation of Murine Mitochondrial DNA Heteroplasmy with mtZFNs
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    Chapter 24 Biolistic Transformation of Chlamydomonas reinhardtii and Saccharomyces cerevisiae Mitochondria
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    Chapter 25 A Method for Precisely Identifying Modifications to Plant Mitochondrial Genomes by mitoTALENs.
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    Chapter 26 Mitochondrial DNA Sequencing and Heteroplasmy Quantification by Next Generation Sequencing
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    Chapter 27 Genomic Strategies in Mitochondrial Diagnostics.
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    Chapter 28 Mitochondrial DNA Enrichment for Sensitive Next-Generation Sequencing.
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    Chapter 29 Single Cell Analysis of Mitochondrial DNA Deletions
Attention for Chapter 27: Genomic Strategies in Mitochondrial Diagnostics.
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Chapter title
Genomic Strategies in Mitochondrial Diagnostics.
Chapter number 27
Book title
Mitochondrial DNA
Published in
Methods in molecular biology, January 2023
DOI 10.1007/978-1-0716-2922-2_27
Pubmed ID
Book ISBNs
978-1-07-162921-5, 978-1-07-162922-2
Authors

Deen, Dasha, Alston, Charlotte L, Hudson, Gavin, Taylor, Robert W, Pyle, Angela, Alston, Charlotte L., Taylor, Robert W.

Abstract

Pathogenic variants in both mitochondrial and nuclear genes contribute to the clinical and genetic heterogeneity of mitochondrial diseases. There are now pathogenic variants in over 300 nuclear genes linked to human mitochondrial diseases. Nonetheless, diagnosing mitochondrial disease with a genetic outcome remains challenging. However, there are now many strategies that help us to pinpoint causative variants in patients with mitochondrial disease. This chapter describes some of the approaches and recent advancements in gene/variant prioritization using whole-exome sequencing (WES).

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Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 23 February 2023.
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#20,807,832
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#10,113
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Outputs of similar age from Methods in molecular biology
#314
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