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Genetic Breakthroughs— Their Implications for You and Your Health (Collection)

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

  1. Title Page
  2. Mobile DNA: Finding Treasure in Junk
    1. Copyright Page
    2. Dedication Page
    3. Contents
    4. Acknowledgments
    5. About the Author
    6. Preface: Thoughts on doing science
    7. 1. Introduction to Mobile DNA
    8. 2. Varieties of mobile DNA
    9. 3. DNA transposons
    10. 4. Mobile DNA of model organisms
    11. 5. Exceptional scientists working on mobile DNA in lower organisms
    12. 6. Role of bioinformatics in genome analysis
    13. 7. The prologue
    14. 8. “Welcome to the wonderful world of LINEs”
    15. 9. An experimental breakthrough
    16. 10. Reverse transcriptase to the rescue
    17. 11. A quirk of L1 elements—a lousy 3' end is important for genome evolution
    18. 12. A tour de force from Tom Eickbush
    19. 13. “I don’t believe all those colonies represent retrotransposition events.”
    20. 14. L1 encodes an endonuclease
    21. 15. The jocks
    22. 16. The mayor and the Frenchman
    23. 17. Ostertag’s coups
    24. 18. The independent Canadian
    25. 19. The musician scientist
    26. 20. Young ladies in the back bay
    27. 21. The brilliant young lady from China
    28. 22. Hiroki’s big surprises
    29. 23. A young man with a purpose
    30. 24. Other mobile DNA in mammalian genomes
      1. Alu elements
      2. Other LINE elements
      3. Endogenous retroviruses
      4. LTR-retrotransposons in the mouse
    31. 25. Effects of retrotransposons on mammalian genomes
      1. Effects of purifying selection on the distribution of retrotransposons in human genomes
      2. Retrotransposition of Alu, SVA, and mRNA by L1 in trans
      3. Non-allelic homologous recombination
      4. Both L1 insertions and L1-mediated insertions can occasionally result in deletion
      5. 3' and 5' transductions of genomic sequence associated with L1 and L1-mediated retrotransposition
      6. Effects on gene expression
      7. Antisense promoter effects
      8. Template switching produces L1 and other chimeras
      9. A role in X chromosome inactivation?
      10. Endonuclease-independent L1 retrotransposition
      11. Effects of somatic insertions
    32. 26. Host factors involved in L1 retrotransposition
      1. APOBEC3 proteins affect reverse transcription of L1
      2. Inhibition of non-LTR retrotransposons by small RNAs
      3. Epigenetic effects on L1 retrotransposition
    33. 27. Why mobile DNA?
    34. 28. The future of mobile DNA research
      1. Genome-wide analysis of recent retrotransposition events
      2. The role of retrotransposition in disease
      3. Biochemical characterization of retrotransposition intermediates
    35. 29. Predictions for mobile DNA
    36. References
    37. Glossary
    38. Index
    39. Financial Times Press
  3. Investigating the Human Genome: Insights into Human Variation and Disease Susceptibility
    1. Copyright Page
    2. Dedication Page
    3. Contents
    4. Acknowledgments
    5. Preface
    6. 1. Genome architecture and sequence variation in health and disease
      1. Structural variation
      2. Human genetic sequence variation
      3. Pathways involved in diabetes
      4. Tracking genes involved in coronary heart disease after GWAS
    7. 2. Genes and transcripts: insights into regulation at different levels
      1. An insight of the decade
      2. ENCODE Project
      3. MicroRNAs and translational control
      4. Post-translational protein modification
    8. 3. Epigenetics: modifications of DNA, chromatin, and gene expression
      1. Histone modifications
      2. Methylation and epigenetic modifications
      3. Insulators and maintenance of boundaries between active and silenced chromatin domains
      4. Analysis in living cells of interphase human chromosomes
      5. ATP-dependent chromatin remodeling
      6. Chromatin modifications in response to neuronal stimulation
      7. Epigenetic changes in enriched environments
      8. NAD-dependent class III histone deacetylases, sirtuins, circadian rhythm, and metabolism
      9. Linking environmental cues to gene expression
      10. Diverse mechanisms by which MECP2 impacts gene expression
      11. Therapeutic interventions based on epigenetic changes
      12. Identification of mutations in chromatin modifier genes in tumors
      13. Variant histones
      14. Parent of origin allelic expression
      15. Epigenetic studies in phenotypically discordant monozygotic twins
      16. DNA methylation and aging
      17. Epigenetics and stem cell biology
    9. 4. Gene-environment interactions
      1. Factors that impact penetrance and expressivity
      2. DNA damage and repair
      3. DNA damage response and chromatin: Fanconi anemia genes
      4. Signatures of environmentally induced DNA damage
    10. 5. Pathways, phenotypes, and phenocopies
      1. Phenocopies in Mendelian disease
      2. mTOR: A key pathway involved in Mendelian disorders, cancer, and diabetes
      3. Regulation of mTOR expression by stress
      4. Pathways in seven different syndromes in which renal cancer occurs
      5. Von Hippel Lindau gene
      6. MET proto-oncogene and renal cancer
      7. Tuberous sclerosis and renal tumors
      8. Folliculin gene mutations and associated syndrome
      9. Tricarboxylic acid metabolism and renal cancer syndromes
      10. Succinate dehydrogenase mutations endocrine tumors and renal tumors
      11. Epistasis
    11. 6. Dynamic function, synaptic activity, and plasticity
      1. Synapses, dendrites, and cognitive impairment
      2. Dendritic spines and synaptic activity
      3. Neuroligins and synapses
      4. Synaptic function and gene expression
      5. Function of FMRP (Fragile X mental retardation protein) at synapses
      6. mTOR
      7. Insights into consciousness
      8. UBE3A and synaptic function: Insights gained from study of Angelman syndrome
      9. Synapses and autism
      10. Synaptic activity and secondary modification of proteins
    12. 7. Late-onset neurodegenerative diseases
      1. Alzheimer’s disease
      2. APOE polymorphism
      3. APOE and amyloid precursor protein
      4. Amyloid Abeta-independent roles of apolipoprotein E4 in Alzheimer’s disease
      5. Alzheimer’s disease: Role of brain cholesterol
      6. Tau phosphorylation, Alzheimer’s disease, and biomarkers
      7. Neurodegeneration in Alzheimer’s disease
      8. Clusterin and Alzheimer’s disease
      9. GWAS studies mitochondrial folate metabolism and 1 C metabolism
      10. Possible role of prion protein in Alzheimer’s disease
      11. Can amyloid behave as prions?
      12. Molecular-based treatment design in Alzheimer’s disease
      13. Modulation of secretase levels and treatment of Alzheimer’s disease
      14. Treatment based on restoration of homeostasis of brain cholesterol
      15. Amyotrophic lateral sclerosis
      16. TAR DNA-binding protein 43
      17. FUS DNA RNA-binding protein in ALS
      18. Aggregates in other forms of late-onset neurodegenerative conditions
      19. Genotype-phenotype studies in ALS
      20. Analysis of protein aggregates in ALS
      21. Proteinopathies, induction of misfolding, and formation of protein aggregates
      22. Aggregates in Parkinson’s disease
      23. Neurodegenerative diseases and mitochondria
      24. Neuronal oxidative and nitrosative stress and protein modification
      25. Prionlike activity of aggregates in neurodegenerative conditions
      26. Inducible proteopathies
      27. Prions
      28. Mitochondrial function and regulators: possibilities for therapy
      29. Potential therapeutic roles of sirtuins in neurodegenerative diseases
    13. 8. Genes and genomes in cancer: targeted therapies
      1. Molecular studies in tumors and therapeutic developments
      2. Drivers and passengers
      3. Exploiting molecular networks in cancer therapy
      4. Analysis of the biology of primary tumors, metastatic tumors, and circulating tumor cells
      5. Systems Biology and Cancer
      6. Bioenergetic regulation as a target in cancer therapy
      7. Genome instability, chromosome instability, and cancer
    14. 9. Functional genomics: personalized medicine and therapeutics
      1. Application of genomics to clinical genetics
      2. Exploring the mechanisms of therapeutic efficacy through functional genomics
      3. Integrative genomics
      4. Data integration: Application of systems biology to medicine
      5. P4 medicine: Predictive, preventive, personalized, and participatory medicine
      6. Induced pluripotent stem cells to model disease and test therapies
    15. Epilogue
    16. References
    17. About the Author
    18. Index
  4. Genes, Chromosomes, and Disease: From Simple Traits, to Complex Traits, to Personalized Medicine
    1. Copyright Page
    2. Dedication Page
    3. Contents
    4. Preface
    5. 1. Hunting for disease genes
      1. Venezuelan adventures: the isolation of the Huntington’s gene
      2. Ethnicity, religion, and the gene-hunting companies
      3. The biggest pedigree of all: deCODE genetics and the Icelandic population
      4. How many disease genes are there?
    6. 2. How genetic diseases arise
      1. Most genetic diseases are caused by mutations
      2. SNPs, the HapMap, and genome-wide association studies
      3. What causes mutations?
      4. Some mutations are worse than others: variation in the cystic fibrosis gene
      5. When chromosomes foul up
      6. Tortoiseshell cats and sex chromosomes
    7. 3. Ethnicity and genetic disease
      1. Malaria and sickle cell disease
      2. Malaria and thalassemia
      3. Malaria and hemoglobins C and E
      4. Malaria and glucose-6-phosphate dehydrogenase deficiency
      5. The recent evolution of the deadliest malaria
      6. HIV resistance: the smallpox connection
      7. Cystic fibrosis (CF) in Caucasian populations
      8. French Canadians and the founder effect
      9. The Acadians
      10. Tay-Sachs and other “Jewish” genetic diseases
    8. 4. Susceptibility genes and risk factors
      1. Selection against a susceptibility gene: cow’s milk and lactose intolerance
      2. Is smoking in the genes?
      3. Asthma
      4. Coronary artery disease
      5. Diabetes mellitus
      6. Are genetic disease variants common or rare?
      7. Will the real risk factors please stand up?
      8. The Diseasome
    9. 5. Genes and cancer
      1. Cancer and the skin
      2. The virus connection: cervical cancer
      3. Breast and ovarian cancer and the problem of gene patents
      4. A malign progression: colorectal cancer
      5. Smoking, carcinogens, and lung cancer
      6. Fixing bad blood: lymphoma and leukemia
      7. The big picture
    10. 6. Genes and behavior
      1. Fragile X syndrome
      2. The gay gene controversy
      3. Bipolar disease and the biological clock
      4. DISC1 and schizophrenia
      5. Genes and alcoholism
    11. 7. Genes and IQ: an unfinished story
      1. Martin Kallikak’s Children
      2. The rise of behaviorism
      3. The return of the hereditarians
      4. Balancing nature with nurture
      5. Stalking intelligence genes
    12. 8. Preventing genetic disease
      1. The role of genetic counseling
      2. In vitro fertilization (IVF)
      3. Preimplantation genetic diagnosis (PGD)
    13. 9. Treating genetic disease
      1. The importance of diet
      2. Hormones and proteins
      3. Gene therapy: mirage or grail?
      4. Creating a life to save a life
      5. Concluding thoughts
    14. 10. The dawn of personalized medicine
      1. Pharmacogenomics: tailoring drugs to people
      2. The $1,000 human genome
      3. Measuring genetic risk
    15. Postscript: a cautionary note
    16. References and notes
      1. Chapter 1: Hunting for disease genes
      2. Chapter 2: How genetic diseases arise
      3. Chapter 3: Ethnicity and genetic disease
      4. Chapter 4: Susceptibility genes and risk factors
      5. Chapter 5: Genes and cancer
      6. Chapter 6: Genes and behavior
      7. Chapter 7: Genes and IQ: an unfinished story
      8. Chapter 8: Preventing genetic disease
      9. Chapter 9: Treating genetic disease
      10. Chapter 10: The dawn of personalized medicine
    17. Glossary
    18. Some useful human genetics Web sites
    19. Acknowledgments
    20. About the author
    21. Index
    22. Financial Times Press
  5. It Takes a Genome: How a Clash Between Our Genes and Modern Life Is Making Us Sick
    1. Copyright Page
    2. Dedication Page
    3. Praise for It Takes a Genome
    4. Contents
    5. Preface: How a genetic culture clash with modern life is making us sick
    6. 1. The adolescent genome
      1. Genetic Imperfection
      2. Unselfish Genes
      3. How Genes Work and Why they Come in Different Flavors
      4. Three Reasons Why Genes Might Make Us Sick
      5. A Unified Theory of Complex Disease
      6. The Human Genome Project
      7. Genomewide Association
    7. 2. Breast cancer’s broken genes
      1. Cancer of the Breast
      2. Broken Genes, Broken Lives
      3. Epidemiology and Relative Risk
      4. Brakes, Accelerators, and Mechanics
      5. Familial Breast Cancer
      6. Growth Factors and the Risk to Populations
      7. Pharmacogenetics and Breast Cancer
      8. Why Do Genes Give us Cancer?
    8. 3. Not so thrifty diabetes genes
      1. Jackie and Ella
      2. The Pathology of Diabetes
      3. Type 1 Diabetes
      4. An Epidemic Genetic Disease
      5. Genetics of Obesity
      6. Type 2 Diabetes
      7. Debunking the Thrifty Genes Hypothesis
      8. Disequilibrium and Metabolic Syndrome
    9. 4. Unhealthy hygiene
      1. Athletic Asthmatics
      2. Inflammation and Respiration
      3. The Hygiene Hypothesis
      4. Asthma Epidemiology
      5. Genetics of Asthma
      6. Inflamed Bowels and Crohn’s Disease
      7. Rheumatoid Arthritis
      8. Imbalance of the Immune System
    10. 5. Genetic AIDS
      1. AIDS and the World
      2. From HIV to AIDS
      3. Why HIV is so Nasty
      4. How to Resist a Virus with Your Genes
      5. HIV Imbalance
    11. 6. Generating depression
      1. Creative Depression
      2. An Epidemic of Mood Swings
      3. Bipolar and Monopolar Disorders
      4. The Pharmacology of Despair
      5. Misbehaving Serotonin
      6. Faint Genetic Signals
      7. Schizophrenia and Other Mental Disturbances
      8. The Genetic Tightrope of the Mind
      9. A Kindling Theory in the Modern World
    12. 7. The alzheimer’s generation
      1. Slow Walk to Dementia
      2. Alzheimer’s on the March
      3. Tangles and Plaques
      4. Early Onset FAD
      5. Late Onset LOAD
      6. Just Growing Old
    13. 8. Genetic normality
      1. Height and Weight
      2. Pigmentation
      3. The God Gene
      4. A Few Words About IQ
      5. On Being Human
      6. The Adolescent Genome Revisited
    14. Notes
      1. Chapter 1
      2. Chapter 2
      3. Chapter 3
      4. Chapter 4
      5. Chapter 5
      6. Chapter 6
      7. Chapter 7
      8. Chapter 8
    15. About the author
    16. Index