Genetics and Genomics

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Cover Brief Contents Contents Preface About the Author Part One : Transmission Genetics Chapter 1 : Mendelian Genetics Genetic Symbols and Crossing Procedure Phenomenon of Dominance Complete Dominance Incomplete Dominance Codominance Dominance – Recessive Relationship Laws of Heredity Segregation and Monohybrid Crosses Test Cross Law of Independent Assortment and Dihybrid Crosses Explaining Mendelism in the Light of Chromosomal Inheritance Molecular Basis of Mendel’s Work Laws of Probability and Mendelian Inheritance Predicting the Outcome of Genetic Crosses Predicting the Influence of Chance Phenomena Mendelian Inheritance and Some Human Traits Summary Key Terms Review Questions Chapter 2 : Extension and Modification of Mendel Laws and Gene Interaction Modification of Mendelian Ratios Supplementary Gene Interaction Coat Colour in Rats Comb Pattern in Chicken Complementary Gene Interaction Flower Colour in Sweet Pea Deaf Mutism in Humans Epistasis: Dominant and Recessive General assumptions Anthocyanin Formation in Pea Body Colour in Mice Seed Colour in Corn Coat Colour in Labrador Plumage Colour in Poultry Epistasis in Summer Squash Cucurbita Molecular Basis of Gene Interaction Eye Colours in Drosophila Bombay Phenotype in Humans Interaction Involving More Genes Coat Colour in Mammals Lethal Interaction Creeper Fowl Yellow Lethal in Mice Lethal Genes in Humans Suppressor Genes and Pseudogenes Environmental Effect on Phenotypic Expression Onset of Genetic Expression Summary Key Terms Review Questions Chapter 3 : Multiple Alleles and Polygenic Inheritance Multiple Alleles in Diverse Organisms Self-Sterility in Tobacco Plants The White-Eye Locus in Drosophila Coat Colour in Rabbits Multiple Alleles in Human Blood Groups Composition of Blood MN Blood Group MN Extension ABO Blood Group A, AB Subgroups Secretor Trait Molecular Genetics of H Antigen Bombay Phenotype Genetics of Rh Factor Rh Incompatibility: Erythroblastosis fetalis Rh Antifactor Serum and Passive Immunity Multiple Alleles in H-2 and HLA Systems Polygenic Inheritance and Continuous Variations Quantitative Traits Height in Human Skin Pigmentation in Human Kernel Colour in Wheat Ear Length in Corn Summary Key Terms Review Questions Chapter 4 : Sex Determination and Differentiation Genic Sex Determination and Haploidy Chromosomal Mechanism of Sex Determination X-Y System Z-W and other Systems Hormones, Environmental Factors and Sex Differentiation Secondary Sex Characters Sex Determination in Drosophila Chromosomal Theory and Origin of Gynanders Origin of Intersexes and Supersexes Genic Balance Theory Sex Determination in Human Pseudoautosomal and Non-Recombining Regions Gene Dosage Compensation X Chromosome Inactivity and Reactivation in Mammals Barr Bodies and Sex Chromatin The Lyon Hypothesis Hyperactivity of X Chromosome in Drosophila Molecular Basis of X Inactivation X Inactivation Centre Summary Key Terms Review Questions Chapter 5 : Sex Linkage and Holandric Transmission Pattern of Sex-Linked Gene Transmission Sex-Linked Genes in Drosophila White Eye Locus Sex Linkage in Humans X-Linked Dominant Genes X-Linked Recessive Genes Colour Blindness Molecular Biology of Colour Perception General Types of Haemophilias Deficiency of Enzyme G6PD Duchenne Muscular Dystrophy, DMD Molecular Structure of Dystrophin Lesch–Nyhan Syndrome Fragile X Syndrome and Mental Retardness in Human Other Sex Linked Holandric Genes Testis-Determining Factor, TDF The Y Chromosome in Human Male Evolution Sex-Limited and Sex-Influenced Genes Summary Key Terms Review Questions Chapter 6 : Extranuclear Inheritance The Criteria of Extranuclear Inheritance Maternal Effects Pigmentation in Ephestia Shell Coiling in Snail Embryonic Development in Drosophila Male Sterility in Plants Infectious Heredity Kappa in Paramecium Infective Particles in Drosophila Sex Ratio Element Organeller Heredity Heredity Symbiosis Chloroplast Mutants Shades of Colour in Leaves of Mirabilis Drug Resistance in Chlamydomonas Mitochondrial Inheritance Respiratory Deficiency in Yeast Poky Mutant in Neurospora Organization of Cytoplasmic Genome Molecular Aspects Symbiont Origin of cpDNA Organization of Mitochondrial Genomes Structure of Mitochondrial Genome Mitochondrial DNA: A Comparison of Mammals and Yeasts Integration between the Products of Nuclear and Organelles Genes Mitochondrial DNA and Disorders Ragged Red Fibre Disease (MERRF) Kearns Sayre Syndrome (KSS) Leber Heredity Optic Neuropathy (LHON) Summary Key Terms Review Questions Part Two : Distribution of Genetic Material Chapter 7 : Linkage and Crossing Over Linkage and Recombination Examples from Pea and Drosophila Coupling and Repulsion Hypothesis Detection of Linkage Linkage Groups Crossing Over and Recombination Mechanism of Crossing Over Cytological Basis of Crossing Over Linkage Maps Chromosome Mapping in Drosophila Single Crossovers Multiple Exchanges Three-Point Mapping in Drosophila Interference and Coincidence Mapping and Linkage Map in Maize Tetrad Analysis and Linkage Map in Neurospora Mapping Human Chromosome Pedigree Analysis Lod Score Somatic Cell Hybridization Summary Key Terms Review Questions Chapter 8 : Cell Mechanics and Molecular Basis of Cell Cycle Relation Between Cell Structure and Genetic Function Cell Coat and Biochemical Identity Cytoskeleton for Support, Motility and Regulation Endoplasmic Reticulum and Synthesis Organelles in Bioenergetics Nucleus as Information Centre Spindle Fibres and Chromosome Movements Chromosome During Cell Division Cell Cycle Mechanics Cell Cycle Sequence Bacterial Cell Cycle Eukaryotic Cell Cycle Cell Cycle Transition Cell Cycle Checkpoints G 1 /S Checkpoint G 2 /M Checkpoint Spindle Checkpoint The Molecular Basis of the Cell Cycle Mitosis Promoting Factor (MPF) Cyclins Action of Cdks Growth Factor Checkpoint Summary Key Terms Review Questions Chapter 9 : The Events of M Phase An Overview of Mitosis Prophase Formation of Mitotic Spindle Condensation of Chromosomes Fate of Nuclear Membrane, Golgi Apparatusand other Organelles Prometaphase and Metaphase Types of Microtubules Metaphase Progression and Cdk1/Cyclin B Mitotic Movements of Cellular Structures Anaphase Assembly Checkpoint and Progression of Anaphase Telophase and Cytokinesis Genes Affecting Mitosis Significance of Mitosis An Overview of Meiosis First Meiotic Division Prophase I Synaptonemal Complex Metaphase, Anaphase and Telophase I Second Meiotic Division Prophase, Metaphase, Anaphase and Telophase II Meiosis and Regulation of Oocytes Genetic Variations Comparison of Mitosis and Meiosis Summary Key Terms Review Questions Chapter 10 : Structural Organization and Special Types of Chromosomes Discovery of Chromosomes Structural Organization of Chromosomes Chromosome can be Circular or Linear Characteristic Chromosome Number Size and Shape Primary Constriction, Centromere and Kinetochore Chromomeres, Satellites and Secondary Constriction Telomeres Euchromatin and Heterochromatin Constitutive and Facultative Heterochromatin Folded Fibre Hypothesis Karyotype Culture of Chromosomes Giant Chromosomes Polytene chromosomes Lampbrush chromosomes Summary Key Terms Review Questions Chapter 11 : Changes in Arrangement and Chromosome Number Structural Chromosomal Aberrations Deletions Notch in Drosophila Duplications Bar Eye in Drosophila Gene Redundancy and Gene Amplification Inversions Inversion in Drosophila Translocations Robertsonian Translocations Multiple Translocation System Aneuploidy: Variations in the Number of Chromosomes Monosomy Partial Monosomy Trisomy: Autosomal Aneuploids Tetrasomy and Nullisomy Polyploidy Euploidy Haploidy or Monoploidy Autoploidy and Alloploidy Chromosomal Evolution of Wheat and Cotton Endopolyploidy Summary Key Terms Review Questions Part Three : Structural and Functional Aspects of Genetic Material Chapter 12 : Nucleic Acids and Chromatin Search for the Genetic Material Bacterial Transformation Bacteriophage Infection Additional Evidences Tobacco Mosaic Virus Infection Chemistry of Nucleic Acids Building Blocks Base Composition Studies X-Ray Diffraction Studies Watson and Crick Model Spatial Structure of DNA Forces Stabilizing DNA Structure Structural Variants of Nucleic Acids Comparison of DNA and RNA Variants of RNAs Variants of DNA Analytical Techniques to Investigate DNA and RNA Denaturation and Renaturation Molecular Hybridization Reassociation Kinetics and C 0 t curve Fluorescent in situ Hybridization (FISH) Chromatin Structure Chemical Composition of Chromatin Nucleosome Concept Nucleosome Packaging Summary Key Terms Review Questions Chapter 13 : DNA Replication and Fidelity Replication Models Semi-conservative Concept Experiments Demonstrating Semi-Conservative Replication Semi-conservative Hypothesis in Prokaryotes Semi-conservative Hypothesis in Eukaryotes Enzymes and Helping Proteins Discovery of DNA Polymerase I Structural Details of DNA Polymerase II, Polymerase III DNA Polymerases in Eukaryotes Helping Proteins DNA Replication Process Origin of Replication and Replication Fork The Unwinding of DNA Helix The Role of Primers Elongation of DNA Chain Energy Requirement during polymerization End Replication Problem Fidelity and Replication Errors Mismatch Repair Concurrent Replication on Both Strands Replication in Closed Circular DNA Theta (θ) Model Rolling Circle Model D-loop Model Summary Key Terms Review Questions Chapter 14 : Mutation, Molecular Mechanism and DNA Repair Genetic Variation and Environmental Influences Mutations and Semi-Constant Environment Mutagenic Agents in the Environment Classifying Mutations Transition and Transversion Somatic and Germinal Mutations Spontaneous and Induced Mutations Conditional Lethals Reversions and Back Mutations Detection of Mutations Detection in Drosophila Detecting Mutations in Fungi and Bacteria Detection in Humans Molecular Mechanism of Mutations Deamination by Nitrous Acid Alkylation by EMS Hydroxylation by Hydroxylamine Incorporation of Base Analogues Tautomerization DNA Repair Mechanisms Photoreactivation Excision Repair Post-Replication and SOS Repair DNA Double-Strand Break Repair Summary Key Terms Review Questions Part Four : Genome Expression Chapter 15 : Genome Expression RNA Synthesis and Processing Flow of Genetic Information Transcription in Prokaryotes RNA Polymerase and Transcription Initiation, Elongation and Termination Polycistronic mRNA Transcription in Eukaryotes Comparison of Transcription in Prokaryotes and Eukaryotes Eukaryotic RNA Polymerases Types of RNAs Regulatory Elements and Transcription Factors Transcription Process in Eukaryotes Formation of Polymerase II Transcription Initiation Complex Initiation of Transcription Transcription by RNA Polymerases I and III Post-Transcriptional Modifications and mRNA Processing Capping at the 5' End Polyadenylation of the 3' End Splicing Mechanisms Ribozymes: Autocatalytic RNAs Spliceosomes and Their Assembly Alternate Splicing RNA Editing and Degradation Summary Key Terms Review Questions Chapter 16 : Genome Expression Translation and Proteins Transporting mRNA in the Cytoplasm Translational Machinery Organization of mRNA Structure and Role of tRNAs Attachment of Amino Acid to tRNA Structure and Function of the Ribosomes Difference in Prokaryotic and Eukaryotic Ribosome Binding Sites on Ribosome for tRNA Structure of Ribosomal RNA Translating Genetic Information Process of Translation in Prokaryotes Initiation Events Attachment of Small Subunit Ribosome on Initiation Codon Initiation Factors Joining of First aa-tRNA into the Ribosome Completion of Initiation Complex Initiation of Translation in Eukaryotes Elongation Termination Post-Translational Modifications of Proteins Chaperones and Their Functions Protein Degradation Summary Key Terms Review Questions Chapter 17 : Regulation of Genome Expression Regulation of Genome Expression in Prokaryotes Operon Concept The lac Operon: An Inducible System The Trp Operon: A Repressible Regulation The ara Operon: Positive and Negative Controls Riboswitches Regulation of Genome Expression in Eukaryotes Transcriptional Activators Activation by Glucocorticoid Enhancers in Transcriptional Activation Eukaryotic Repressors Zinc Fingers DNA Methylation Chromatin in Regulating Gene Expression Rearrangement and Remodelling of Nucleosome Regulatory RNAs RNA Interference (RNAi) Small Interfering RNAs (siRNAs) MicroRNAs (miRNAs) X inactivation and Regulatory RNA Summary Key Terms Review Questions Chapter 18 : Cloning and Recombinant DNA Technology Gene Transfer Methods Transfer in Animals Transfer in Plants Tools of DNA Cloning Restriction Enzymes and Palindromes Cloning Vectors Plasmids (pUC18, pUC19) Bacteriophage Vector (Lambda, M13) Cosmids (Hybrid Vectors) Bacterial Artificial Chromosomes (BAC) and Yeast Vectors (YAC) Cloning of Foreign Genes and their Identification Cloning in E. coli Host Cells Identifying Genes of Interest Cloning in a Eukaryotic Host DNA Libraries Genomic Libraries Chromosomal Libraries cDNA Libraries Cloning Without Host Cells Polymerase Chain Reaction (PCR) DNA Fingerprinting Chemical Synthesis of DNA Transgenomics and Genetically Modified Organisms Transgenic Animals Drugs and Proteins Genetic Engineering in Plants Nitrogen-Fixing ( nif ) Gene Herbicide-Resistant Gene Insecticide Protein Nutritionally Improved Rice DNA Patenting Ethical Concerns Summary Key Terms Review Questions Part Five : Applied Genetics Chapter 19 : Human Genetics Karyotype in Man Human Chromosome Complement Chromosome Banding Inherited Disorders and Chromosomal Aberrations Autosomal Disorders Allosomal Disorders Inborn Errors of Metabolisms Alkaptonuria Phenlyketonuria Goitrous Cretinism Tay–Sachs Disease G6PD Deficiency Other Inborn Disorders Single-Gene Disorder Sickle-Cell Anaemia Sickle Cell and Malarial protection Cystic Fibrosis Lesch–Nyhan Syndrome Huntington Disease Thalassaemia Duchenne Muscular Dystrophy Genetic Diseases and Amelioration Genetic Counselling Gene Therapy Human Genome Organization Two Approaches of Sequencing Human Genome Project Encyclopedia of DNA Elements (ENCODE) Summary Key Terms Review Questions Chapter 20 : Population Genetics Population, Gene Frequencies and Gene Pool The Hardy–Weinberg Law Predicting Equilibrium Generalized Equation Testing of Equilibrium Taster – NonTaster Trait M–N Allele Frequency HIV-1 Susceptibility and CCR5-D32 allele Frequency Applications of Hardy–Weinberg Law Frequencies in Two Alleles System Frequencies in Multiple Alleles Frequencies in Sex-Linked Genes Extension of Hardy–Weinberg Law Impact of Mutations in Equilibrium Migration and its Impact Selection Process Effects of Random Genetic Drift Dunkers Community Pingelap Population Summary Key Terms Review Questions Index