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The Human Mitochondrial Genome

The Human Mitochondrial Genome
From Basic Biology to Disease

by Giuseppe Gasparre,Anna Maria Porcelli

  • Publisher : Academic Press
  • Release : 2020-08-19
  • Pages : 596
  • ISBN : 0128196564
  • Language : En, Es, Fr & De
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The Human Mitochondrial Genome: From Basic Biology to Disease offers a comprehensive, up-to-date examination of human mitochondrial genomics, connecting basic research to translational medicine across a range of disease types. Here, international experts discuss the essential biology of human mitochondrial DNA (mtDNA), including its maintenance, repair, segregation, and heredity. Furthermore, mtDNA evolution and exploitation, mutations, methods, and models for functional studies of mtDNA are dealt with. Disease discussion is accompanied by approaches for treatment strategies, with disease areas discussed including cancer, neurodegenerative, age-related, mtDNA depletion, deletion, and point mutation diseases. Nucleosides supplementation, mitoTALENs, and mitoZNF nucleases are among the therapeutic approaches examined in-depth. With increasing funding for mtDNA studies, many clinicians and clinician scientists are turning their attention to mtDNA disease association. This book provides the tools and background knowledge required to perform new, impactful research in this exciting space, from distinguishing a haplogroup-defining variant or disease-related mutation to exploring emerging therapeutic pathways. Fully examines recent advances and technological innovations in the field, enabling new mtDNA studies, variant and mutation identification, pathogenic assessment, and therapies Disease discussion accompanied by diagnostic and therapeutic strategies currently implemented clinically Outlines and discusses essential research protocols and perspectives for young scientists to pick up Features an international team of authoritative contributors from basic biologists to clinician-scientists

The Evolution of Human Mitochondrial DNA

The Evolution of Human Mitochondrial DNA
A Book

by Rebecca Louise Cann

  • Publisher : Unknown Publisher
  • Release : 1982
  • Pages : 650
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Human Mitochondrial DNA and the Evolution of Homo sapiens

Human Mitochondrial DNA and the Evolution of Homo sapiens
A Book

by Hans-Jürgen Bandelt,Martin Richards,Vincent Macaulay

  • Publisher : Springer Science & Business Media
  • Release : 2006-09-05
  • Pages : 271
  • ISBN : 3540317899
  • Language : En, Es, Fr & De
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Mitochondrial DNA is one of the most closely explored genetic systems, because it can tell us so much about the human past. This book takes a unique perspective, presenting the disparate strands that must be tied together to exploit this system. From molecular biology to anthropology, statistics to ancient DNA, this first volume of three presents a comprehensive global picture and a critical appraisal of human mitochondrial DNA variation.

The Human Mitochondrial Genome

The Human Mitochondrial Genome
From Basic Biology to Disease

by Giuseppe Gasparre,Anna Maria Porcelli

  • Publisher : Academic Press
  • Release : 2020-07-23
  • Pages : 596
  • ISBN : 0128226420
  • Language : En, Es, Fr & De
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The Human Mitochondrial Genome: From Basic Biology to Disease offers a comprehensive, up-to-date examination of human mitochondrial genomics, connecting basic research to translational medicine across a range of disease types. Here, international experts discuss the essential biology of human mitochondrial DNA (mtDNA), including its maintenance, repair, segregation, and heredity. Furthermore, mtDNA evolution and exploitation, mutations, methods, and models for functional studies of mtDNA are dealt with. Disease discussion is accompanied by approaches for treatment strategies, with disease areas discussed including cancer, neurodegenerative, age-related, mtDNA depletion, deletion, and point mutation diseases. Nucleosides supplementation, mitoTALENs, and mitoZNF nucleases are among the therapeutic approaches examined in-depth. With increasing funding for mtDNA studies, many clinicians and clinician scientists are turning their attention to mtDNA disease association. This book provides the tools and background knowledge required to perform new, impactful research in this exciting space, from distinguishing a haplogroup-defining variant or disease-related mutation to exploring emerging therapeutic pathways. Fully examines recent advances and technological innovations in the field, enabling new mtDNA studies, variant and mutation identification, pathogenic assessment, and therapies Disease discussion accompanied by diagnostic and therapeutic strategies currently implemented clinically Outlines and discusses essential research protocols and perspectives for young scientists to pick up Features an international team of authoritative contributors from basic biologists to clinician-scientists

High-throughput Analysis of the Human Mitochondrial Genome Reveals Its Dynamics, Function, and Signals of Selection in Cancer

High-throughput Analysis of the Human Mitochondrial Genome Reveals Its Dynamics, Function, and Signals of Selection in Cancer
A Book

by Sneha Grandhi

  • Publisher : Unknown Publisher
  • Release : 2018
  • Pages : 129
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Known as the energy powerhouses of the cell, mitochondria carry their own genomes, and encode for key cellular respiration proteins. Carrying multiple copies per cell, a given mitochondrial DNA (mtDNA) variant can be present at varying proportions, termed heteroplasmy. MtDNA is acquired exclusively through maternal inheritance and becomes stochastically replicated and segregated into dividing mitochondria over an organism's lifespan. An individual's constellation of mtDNA variants and their respective heteroplasmy levels can therefore change in response to selective pressures in somatic cells and/or selection that takes place during germline transmission. MtDNA aberrations are associated with many disorders, including cancer. Although mitochondrial genomes accumulate elevated mutation rates in cancer cells, the origin and functional impact of these mutations remain controversial. Here, we queried whole-genome sequencing data from 1,916 patients across 24 cancer types to characterize patterns of mtDNA mutations and elucidate the selective constraints driving their fate. We also tracked changes in per-cell abundances of mtDNA mutations from normal to tumor cells in the same patient. Tumor mitochondrial genomes show distinct mutational patterns and are disproportionately enriched for protein-altering changes. Moreover, protein-altering mtDNA variants that are initially present at low frequencies in normal cells preferentially expand in the altered tumor environment, suggesting selective advantage. Renal chromophobe and thyroid cancers show strong signals of positive selection with higher proportions and per-cell abundances of truncating mtDNA variants. Dramatic tumor- and tissue-specific variations in selective pressures suggest that cancer cells with advantageous levels of damaged mitochondrial genomes will selectively proliferate to facilitate the tumorigenic process.We also cataloged mitochondrial sequence variants and gene expression across 927 cancer cell lines from the Cancer Cell Line Encyclopedia (CCLE). We used this data to create a novel computational method called DoReMi (Donor, Recipient Mitochondrial DNA matching). DoReMi scores candidate mtDNA donor and recipient cell lines for cybridization experiments, which help identify the role of mtDNA variants in-vitro under a controlled nuclear genetic background. This tool allows researchers to design optimized cybrid experiments for querying the role of mutations in their mitochondrial-encoded gene of interest. Researchers may also apply DoReMi to study their own cell lines of interest.

Human Mitochondrial DNA Evolution in Papua New Guinea

Human Mitochondrial DNA Evolution in Papua New Guinea
A Book

by Mark Allen Stoneking

  • Publisher : Unknown Publisher
  • Release : 1988
  • Pages : 648
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Normal and Disease-related Sequence Variants of the Human Mitochondrial Genome

Normal and Disease-related Sequence Variants of the Human Mitochondrial Genome
A Book

by Patcharee Lertrit

  • Publisher : Unknown Publisher
  • Release : 1992
  • Pages : 424
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Investigation of Human Mitochondrial DNA Abnormality in Colon Cancer

Investigation of Human Mitochondrial DNA Abnormality in Colon Cancer
A Book

by Mansoureh Akouchekian

  • Publisher : Cuvillier Verlag
  • Release : 2008
  • Pages : 80
  • ISBN : 3867277591
  • Language : En, Es, Fr & De
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High-yield Cell and Molecular Biology

High-yield Cell and Molecular Biology
A Book

by Ronald W. Dudek

  • Publisher : Lippincott Williams & Wilkins
  • Release : 2007
  • Pages : 254
  • ISBN : 9780781768870
  • Language : En, Es, Fr & De
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This completely revised and updated review book consolidates the most important clinical issues that medical students need to know to be prepared for questions on USMLE Step 1. The book reviews key cell biology concepts needed to study molecular biology, and reviews the key concepts of molecular biology necessary for clinical medical practice, Flow charts provide a clear overview of molecular biology techniques and how they are applied in medicine. A chapter on understanding the research literature provides a solid background in molecular biology protocol so that students can understand the purpose and thinking behind published research articles.

MITOMAP

MITOMAP
A Human Mitochondrial Genome Database

by Anonim

  • Publisher : Unknown Publisher
  • Release : 1997
  • Pages : 129
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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MITOMAP uses the mtDNA sequence as the unifying element for bringing together information on mitochondrial genome structure and function, pathogenic mutations, and their clinical characteristics, population associated variation, and gene-gene interactions.

The Role of MGME1 in Maintenance of the Human Mitochondrial Genome

The Role of MGME1 in Maintenance of the Human Mitochondrial Genome
A Book

by Thomas Joseph James Nicholls

  • Publisher : Unknown Publisher
  • Release : 2014
  • Pages : 129
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Organization and Expression of the Mouse L Cell Mitochondrial DNA Genome

Organization and Expression of the Mouse L Cell Mitochondrial DNA Genome
A Book

by Richard Alfred Van Etten

  • Publisher : Unknown Publisher
  • Release : 1984
  • Pages : 282
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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The Mitochondrial Genome in Forensic Genetics

The Mitochondrial Genome in Forensic Genetics
Microfluidic Device for Animal Group Identification and Point Heteroplasmy in the Human MtDNA

by Anonim

  • Publisher : Unknown Publisher
  • Release : 2015
  • Pages : 129
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Mitochondrial Diseases

Mitochondrial Diseases
A Book

by Wiley

  • Publisher : John Wiley & Sons
  • Release : 2013-07-12
  • Pages : 140
  • ISBN : 1118734416
  • Language : En, Es, Fr & De
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This collection of reviews and protocols provides the reader with an introduction to the current state of knowledge on how various diseases are related to mitochondrial dysfunction. Mitochondria contain their own genome, a small, circular double-stranded DNA (mtDNA), and alterations in mtDNA may play an important role in the multistep carcinogenesis of at least some types of human cancer. In addition to mutations of mtDNA, many mitochondrial syndromes are due to abnormalities in nuclear genes related to oxidative phosphorylation (OXPHOS). Mitochondrial tRNA (MTT) gene mutations are an important cause of human morbidity and are associated with a wide range of pathology, from isolated organ?]specific diseases such as myopathy or hearing loss, to multisystem disorders with encephalopathy, gastrointestinal dysmotility, and life?]threatening cardiomyopathy. The relationship of the mitochondrion organelle to aging and longevity is also discussed. Laboratory protocols describe methodology to characterize mtDNA heteroplasmy by parallel sequencing. Each eukaryotic cell contains hundreds of mitochondria with hundreds of mitochondria genomes. Mutant and wild-type mtDNA may co-exist as heteroplasmy, and cause human disease. The purpose of this protocol is to simultaneously determine mtDNA sequence and quantify the heteroplasmic level. Another protocol describes procedures for obtaining tissue sections and cell material suitable for histological evaluation of OXPHOS activity and integrity and immunodetection of the complexes in tissue from patients suspected of mitochondrial disease. Emphasis lies on the diagnostic potential of these techniques to differentiate mtDNA from nuclear mutations. This e-book — a curated collection from eLS, WIREs, and Current Protocols — offers a fantastic introduction to the field of mitochondrial diseases for students or interdisciplinary collaborators. Table of Contents: Introduction Mitochondrial DNA Copy Number Alterations in Human Cancers eLS Man Yu Mitochondrial Disorders: Nuclear Gene Mutations eLS Daniele Ghezzi and Massimo Zeviani Mitochondria as a Key Determinant of Aging eLS Ludivine Walter and Siu Sylvia Lee Advanced Reviews Mitochondrial tRNA Mutations and Disease WIREs RNA John W. Yarham, Joanna L. Elson, Emma L. Blakely, Robert McFarland, Robert W. Taylor Human Mitochondrial Diseases Caused by Lack of Taurine Modification in Mitochondrial tRNAs WIREs RNA Suzuki Tsutomu, Nagao Asuteka, Suzuki Takeo Protocols Next Generation Sequencing to Characterize Mitochondrial Genomic DNA Heteroplasmy Current Protocols in Human Genetics Taosheng Huang Histochemical Methods for the Diagnosis of Mitochondrial Diseases Current Protocols in Human Genetics Boel De Paepe, Jan L. De Bleecker, Rudy Van Coster

Whole Genome Sequence Analysis of Human Mitochondrial DNA Using Microarray Technology

Whole Genome Sequence Analysis of Human Mitochondrial DNA Using Microarray Technology
A Book

by Vivian Edesan Reyes

  • Publisher : Unknown Publisher
  • Release : 2008
  • Pages : 166
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Human Genome Project

Human Genome Project
Ethics

by Anonim

  • Publisher : Unknown Publisher
  • Release : 1992
  • Pages : 433
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Detection of Sequence Variation in the HVII Region of the Human Mitochondrial Genome in 689 Individuals Using Immobilized Sequence-Specific Oligonucleotide Probes

Detection of Sequence Variation in the HVII Region of the Human Mitochondrial Genome in 689 Individuals Using Immobilized Sequence-Specific Oligonucleotide Probes
A Book

by R. Reynolds,K. Walker,J. Varlaro,M. Alavaren,E. Clark,H. Erlich

  • Publisher : Unknown Publisher
  • Release : 2000
  • Pages : 22
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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We have developed a rapid, immobilized probe-based assay for the detection of sequence variation in the hyper-variable segment II (HVII) of the mitochondrial DNA (mtDNA) control region. Using a panel of 17 sequence-specific oligonucleotide (SSO) probes immobilized on nylon membrane strips, we typed 689 individuals from four population groups. The genetic diversity value for each population was calculated from the frequency data, and the frequencies of distinct "mitotypes" in each group were determined. We performed DNA sequence analysis of 129 samples to characterize the sequences associated with "blanks" (absence of probe signals) and weak probe signals. Out of 689 samples, we observed five heteroplasmic samples (excluding the variable C-stretch beginning at position 303) using the immobilized SSO probe panel. The SSO probe strips were used for the analysis of shed hairs and bloodstains from several criminal cases in Sweden, one of which is described here. We conclude that this mtDNA typing system is useful for human identification and significantly decreases casework turnaround time.

Sequence Analysis of the Whole Human Mitochondrial Genome Using Microarray Technology

Sequence Analysis of the Whole Human Mitochondrial Genome Using Microarray Technology
A New Tool to Aid in the Differentiation of Individuals with a Shared Haplotype

by Krystle M. Macurdy

  • Publisher : Unknown Publisher
  • Release : 2007
  • Pages : 226
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Evolution of the Human Genome II

Evolution of the Human Genome II
Human Evolution Viewed from Genomes

by Naruya Saitou

  • Publisher : Springer Nature
  • Release : 2022
  • Pages : 264
  • ISBN : 4431569049
  • Language : En, Es, Fr & De
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This two-volume set provides a general overview of the evolution of the human genome; The first volume overviews the human genome with descriptions of important gene groups. This second volume provides up-to-date, concise yet ample knowledge on the genome evolution of modern humans. It comprises twelve chapters divided into two parts discussing on-neutral Evolution on Human Genes (Part I) and evolution of Modern Human Populations (Part II.) The most significant feature of this book is the continent-wise discussion of modern human dispersal using human genomic data in Part II. Recent results such as introgression of paleogenomes to modern humans, new methods such as computer simulation of global human dispersals, and new information on genes for humanness will be of particular interest to the readers. Since the euchromatin regions of the human genome was sequenced in 2003, a huge number of research papers were published on modern human evolution for a variety of populations. It is now time to summarize these achievements. This book stands out as the most comprehensive book on the modern human evolution, focusing on genomic points of view with a broad scope. Primary target audiences are researchers and graduate students in evolutionary biology.

Restriction Fragment Length Polymorphism Analysis of the Human Mitochondrial Genome in Maternally Transmitted Huntington's Disease

Restriction Fragment Length Polymorphism Analysis of the Human Mitochondrial Genome in Maternally Transmitted Huntington's Disease
A Book

by kathryn Mary Tchorz

  • Publisher : Unknown Publisher
  • Release : 1989
  • Pages : 112
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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