Book description
3 cutting-edge books reveal the latest genetic breakthroughs – and their implications for you, your health, and your world
These three cutting-edge books reveal how modern genetics has already transformed the world – and will transform it again and again in the coming years. Mobile DNA book thoroughly reviews our current scientific understanding of the significant role that mobile genetic elements play in the evolution and function of genomes and organisms–from plants and animals to humans. Renowned geneticist Haig Kazazian offers an accessible intellectual history of the field’s research strategies and concerns, explaining how advances have opened up new questions, and how new tools and capabilities have encouraged still more progress. He introduces today’s key strategies for advancing the field, and previews long-term research strategies that may lead to even deeper insights. Next, in Investigating the Human Genome, leading medical genetics scholar Moyra Smith reviews current and recent work in genetics and genomics to assess progress in understanding human variation and the pathogenesis of common and rare diseases linked to genetics. You’ll discover how these advances are shedding new light on issues ranging from human origins to psychiatric disease, Alzheimer’s to epigenetics. Finally, in Genes, Chromosomes, and Disease, Nicholas Wright Gillham offers an exceptionally readable overview of the rise and transformations of medical genetics – and of the eugenic impulses that it has inspired.
From world-renowned leaders and experts, includingHaig H. Kazazian, Moyra Smith, and Nicholas Wright Gillham
Table of contents
- Title Page
-
Mobile DNA: Finding Treasure in Junk
- Copyright Page
- Dedication Page
- Contents
- Acknowledgments
- About the Author
- Preface: Thoughts on doing science
- 1. Introduction to Mobile DNA
- 2. Varieties of mobile DNA
- 3. DNA transposons
- 4. Mobile DNA of model organisms
- 5. Exceptional scientists working on mobile DNA in lower organisms
- 6. Role of bioinformatics in genome analysis
- 7. The prologue
- 8. “Welcome to the wonderful world of LINEs”
- 9. An experimental breakthrough
- 10. Reverse transcriptase to the rescue
- 11. A quirk of L1 elements—a lousy 3' end is important for genome evolution
- 12. A tour de force from Tom Eickbush
- 13. “I don’t believe all those colonies represent retrotransposition events.”
- 14. L1 encodes an endonuclease
- 15. The jocks
- 16. The mayor and the Frenchman
- 17. Ostertag’s coups
- 18. The independent Canadian
- 19. The musician scientist
- 20. Young ladies in the back bay
- 21. The brilliant young lady from China
- 22. Hiroki’s big surprises
- 23. A young man with a purpose
- 24. Other mobile DNA in mammalian genomes
-
25. Effects of retrotransposons on mammalian genomes
- Effects of purifying selection on the distribution of retrotransposons in human genomes
- Retrotransposition of Alu, SVA, and mRNA by L1 in trans
- Non-allelic homologous recombination
- Both L1 insertions and L1-mediated insertions can occasionally result in deletion
- 3' and 5' transductions of genomic sequence associated with L1 and L1-mediated retrotransposition
- Effects on gene expression
- Antisense promoter effects
- Template switching produces L1 and other chimeras
- A role in X chromosome inactivation?
- Endonuclease-independent L1 retrotransposition
- Effects of somatic insertions
- 26. Host factors involved in L1 retrotransposition
- 27. Why mobile DNA?
- 28. The future of mobile DNA research
- 29. Predictions for mobile DNA
- References
- Glossary
- Index
- Financial Times Press
-
Investigating the Human Genome: Insights into Human Variation and Disease Susceptibility
- Copyright Page
- Dedication Page
- Contents
- Acknowledgments
- Preface
- 1. Genome architecture and sequence variation in health and disease
- 2. Genes and transcripts: insights into regulation at different levels
-
3. Epigenetics: modifications of DNA, chromatin, and gene expression
- Histone modifications
- Methylation and epigenetic modifications
- Insulators and maintenance of boundaries between active and silenced chromatin domains
- Analysis in living cells of interphase human chromosomes
- ATP-dependent chromatin remodeling
- Chromatin modifications in response to neuronal stimulation
- Epigenetic changes in enriched environments
- NAD-dependent class III histone deacetylases, sirtuins, circadian rhythm, and metabolism
- Linking environmental cues to gene expression
- Diverse mechanisms by which MECP2 impacts gene expression
- Therapeutic interventions based on epigenetic changes
- Identification of mutations in chromatin modifier genes in tumors
- Variant histones
- Parent of origin allelic expression
- Epigenetic studies in phenotypically discordant monozygotic twins
- DNA methylation and aging
- Epigenetics and stem cell biology
- 4. Gene-environment interactions
-
5. Pathways, phenotypes, and phenocopies
- Phenocopies in Mendelian disease
- mTOR: A key pathway involved in Mendelian disorders, cancer, and diabetes
- Regulation of mTOR expression by stress
- Pathways in seven different syndromes in which renal cancer occurs
- Von Hippel Lindau gene
- MET proto-oncogene and renal cancer
- Tuberous sclerosis and renal tumors
- Folliculin gene mutations and associated syndrome
- Tricarboxylic acid metabolism and renal cancer syndromes
- Succinate dehydrogenase mutations endocrine tumors and renal tumors
- Epistasis
-
6. Dynamic function, synaptic activity, and plasticity
- Synapses, dendrites, and cognitive impairment
- Dendritic spines and synaptic activity
- Neuroligins and synapses
- Synaptic function and gene expression
- Function of FMRP (Fragile X mental retardation protein) at synapses
- mTOR
- Insights into consciousness
- UBE3A and synaptic function: Insights gained from study of Angelman syndrome
- Synapses and autism
- Synaptic activity and secondary modification of proteins
-
7. Late-onset neurodegenerative diseases
- Alzheimer’s disease
- APOE polymorphism
- APOE and amyloid precursor protein
- Amyloid Abeta-independent roles of apolipoprotein E4 in Alzheimer’s disease
- Alzheimer’s disease: Role of brain cholesterol
- Tau phosphorylation, Alzheimer’s disease, and biomarkers
- Neurodegeneration in Alzheimer’s disease
- Clusterin and Alzheimer’s disease
- GWAS studies mitochondrial folate metabolism and 1 C metabolism
- Possible role of prion protein in Alzheimer’s disease
- Can amyloid behave as prions?
- Molecular-based treatment design in Alzheimer’s disease
- Modulation of secretase levels and treatment of Alzheimer’s disease
- Treatment based on restoration of homeostasis of brain cholesterol
- Amyotrophic lateral sclerosis
- TAR DNA-binding protein 43
- FUS DNA RNA-binding protein in ALS
- Aggregates in other forms of late-onset neurodegenerative conditions
- Genotype-phenotype studies in ALS
- Analysis of protein aggregates in ALS
- Proteinopathies, induction of misfolding, and formation of protein aggregates
- Aggregates in Parkinson’s disease
- Neurodegenerative diseases and mitochondria
- Neuronal oxidative and nitrosative stress and protein modification
- Prionlike activity of aggregates in neurodegenerative conditions
- Inducible proteopathies
- Prions
- Mitochondrial function and regulators: possibilities for therapy
- Potential therapeutic roles of sirtuins in neurodegenerative diseases
-
8. Genes and genomes in cancer: targeted therapies
- Molecular studies in tumors and therapeutic developments
- Drivers and passengers
- Exploiting molecular networks in cancer therapy
- Analysis of the biology of primary tumors, metastatic tumors, and circulating tumor cells
- Systems Biology and Cancer
- Bioenergetic regulation as a target in cancer therapy
- Genome instability, chromosome instability, and cancer
-
9. Functional genomics: personalized medicine and therapeutics
- Application of genomics to clinical genetics
- Exploring the mechanisms of therapeutic efficacy through functional genomics
- Integrative genomics
- Data integration: Application of systems biology to medicine
- P4 medicine: Predictive, preventive, personalized, and participatory medicine
- Induced pluripotent stem cells to model disease and test therapies
- Epilogue
- References
- About the Author
- Index
-
Genes, Chromosomes, and Disease: From Simple Traits, to Complex Traits, to Personalized Medicine
- Copyright Page
- Dedication Page
- Contents
- Preface
- 1. Hunting for disease genes
- 2. How genetic diseases arise
-
3. Ethnicity and genetic disease
- Malaria and sickle cell disease
- Malaria and thalassemia
- Malaria and hemoglobins C and E
- Malaria and glucose-6-phosphate dehydrogenase deficiency
- The recent evolution of the deadliest malaria
- HIV resistance: the smallpox connection
- Cystic fibrosis (CF) in Caucasian populations
- French Canadians and the founder effect
- The Acadians
- Tay-Sachs and other “Jewish” genetic diseases
- 4. Susceptibility genes and risk factors
- 5. Genes and cancer
- 6. Genes and behavior
- 7. Genes and IQ: an unfinished story
- 8. Preventing genetic disease
- 9. Treating genetic disease
- 10. The dawn of personalized medicine
- Postscript: a cautionary note
-
References and notes
- Chapter 1: Hunting for disease genes
- Chapter 2: How genetic diseases arise
- Chapter 3: Ethnicity and genetic disease
- Chapter 4: Susceptibility genes and risk factors
- Chapter 5: Genes and cancer
- Chapter 6: Genes and behavior
- Chapter 7: Genes and IQ: an unfinished story
- Chapter 8: Preventing genetic disease
- Chapter 9: Treating genetic disease
- Chapter 10: The dawn of personalized medicine
- Glossary
- Some useful human genetics Web sites
- Acknowledgments
- About the author
- Index
- Financial Times Press
-
It Takes a Genome: How a Clash Between Our Genes and Modern Life Is Making Us Sick
- Copyright Page
- Dedication Page
- Praise for It Takes a Genome
- Contents
- Preface: How a genetic culture clash with modern life is making us sick
- 1. The adolescent genome
- 2. Breast cancer’s broken genes
- 3. Not so thrifty diabetes genes
- 4. Unhealthy hygiene
- 5. Genetic AIDS
- 6. Generating depression
- 7. The alzheimer’s generation
- 8. Genetic normality
- Notes
- About the author
- Index
Product information
- Title: Genetic Breakthroughs— Their Implications for You and Your Health (Collection)
- Author(s):
- Release date: February 2012
- Publisher(s): Pearson
- ISBN: 9780133039641
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