MOLECULAR GENETICS

By KAREN GONZALEZ

CONTENTS INTRODUCTION WHY IS GENETICS RELEVANT FOR ME? NATURE, NURTURE, AND HERITABILITY PHENOTYPE, GENOTYPE AND ENVIRONMENT INNATENESS, A SLIPPERY AND COMPLEX CONCEPT SOME BASIC NOTIONS OF STATISTICS MEAN, VARIANCE AND STANDARD DEVIATION THE NORMAL DISTRIBUTION STATISTICAL POPULATIONS AND SAMPLES COVARIANCE AND CORRELATION REGRESSION BASIC NOTIONS OF QUANTITATIVE GENETICS PARTITIONING THE ENVIRONMENT ESTIMATING HERITABILITY HERITABILITY: WHAT IT DOES AND DOES NOT MEAN THE HERITABILITY OF LANGUAGE AND SPEECH RELATIONSHIPS BETWEEN GENOTYPE AND ENVIRONMENT SHARING GENES BETWEEN PHENOTYPES: GENETIC CORRELATIONS AND “GENERALIST GENES” THE MOLECULAR BASES OF GENETICS WE ARE COMPOSED OF CELLS THE MOLECULES OF LIFE THE GENETIC MATERIAL DNA: STORING AND TRANSMITTING INFORMATION CHROMOSOMES ARE DNA MOLECULES GENETIC LOCI AND RECOMBINATION WHAT IS A GENE? DECODING GENES: TRANSCRIPTION AND TRANSLATION GENES HAVE STRUCTURE: INTRONS AND EXONS EFFECTS OF GENES ON PHENOTYPE DOMINANCE AND RECESSIVENESS AUTOSOMAL DOMINANCE AND RECESSIVENESS A DOMINANT SPEECH AND LANGUAGE DISORDER RECESSIVE HEARING LOSS SEX-LINKED DOMINANCE AND RECESSIVENESS X CHROMOSOME INACTIVATION ANOMALOUS COLOUR PERCEPTION VARIATION IN COLOUR PERCEPTION AND LANGUAGE LINKAGE DISEQUILIBRIUM AND ITS ROLE IN ?NDING GENES WHAT IS LINKAGE DISEQUILIBRIUM? USING LINKAGE DISEQUILIBRIUM ASSOCIATION STUDIES STATISTICAL CONCEPTS: POWER, MULTIPLE TESTING CORRECTION AND EFFECT SIZE CONTROLLING FOR OTHER FACTORS USING REGRESSION ACCOUNTING FOR POPULATION STRATI?CATION REPLICATION AS THE GOLD STANDARD COMBINING MULTIPLE MARKERS THE TRANSMISSION DISEQUILIBRIUM TEST EXAMPLES OF ASSOCIATION STUDIES FOR LANGUAGE AND SPEECH LINKAGE STUDIES WHAT DO GENES ACTUALLY DO? STRUCTURAL PROTEINS: TECTA IN THE INNER EAR THE TRANSPORTATION SYSTEM: MYO15A UNEXPECTED PROCESSES: STUTTERING AND THE LYSOSOME GUIDING AXONS: ROBO1 IN DYSLEXIA AND NORMAL VARIATION POST-TRANSCRIPTIONAL GENE REGULATION: MICRORNAS MIR-96 AND HEARING LOSS THE WAY FORWARD: EXOME AND GENOME SEQUENCING EXOME AND GENOME SEQUENCING THE “MISSING HERITABILITY” AND THE GENETIC ARCHITECTURE OF COMPLEX TRAITS POPULATION AND EVOLUTIONARY GENETICS FOUNDATIONS OF POPULATION GENETICS: LOCI, ALLELES, INDIVIDUALS AND POPULATIONS A USEFUL BASELINE: THE HARDY-WEINBERG EQUILIBRIUM GENETIC DRIFT: THE POWER OF CHANCE MUTATION: THE CREATOR OF DIVERSITY SELECTION: WHEN DIFFERENCES DO MATTER POSITIVE, STABILIZING AND DISRUPTIVE SELECTION HIKING THE ?TNESS LANDSCAPE WHEN SELECTION SEEMINGLY FAILS WHAT IS SELECTED: DE-FOCUSING THE INDIVIDUAL THE (NEARLY) NEUTRAL THEORY OF EVOLUTION DETECTING SELECTION FROM GENETIC DATA POPULATION STRUCTURE: LOVE IS NOT BLIND INBREEDING: MATING AMONG GENETIC RELATIVES (DIS-)ASSORTATIVE MATING: CHOOSING PARTNERS (UN)LIKE YOURSELF STRUCTURED POPULATIONS: CHOOSING THE PARTNERS YOU CAN ACTUALLY CHOOSE THE GENETIC STRUCTURE OF MODERN HUMANS RECENT AND ONGOING EVOLUTION IN HUMANS SKIN COLOUR HAIR, SWEAT AND EAR WAX LIVING AT HIGH ALTITUDE IS CULTURE SHIELDING OR SELECTING US? INTERACTIONS BETWEEN GENETIC AND CULTURAL EVOLUTION FIGHTING PATHOGENS EATING WELL CREATING NEW LANGUAGES GENETICALLY BIASED CULTURAL EVOLUTION GENETIC BIASES IN LANGUAGE 10 CONCLUSIONS, TOPICS NOT COVERED, FUTURE DIRECTIONS 10 1 RESOURCES FOR FURTHER STUDY