Introduction to Veterinary Genetics

Frank Nicholas is Emeritus Professor of Animal Genetics in the Faculty of Veterinary Science at the University of Sydney.  He has edited and co-authored several books about genetics and one about Charles Darwin, and he created and maintains Online Mendelian Inheritance of Animals (OMIA; omia.angis.org.au), a comparative knowledge-base of genetic disorders and other familial traits in non-laboratory animals.

• Preface x1 Basic genetics 1Chromosomes 1Meiosis and mitosis 4The biochemistry of inheritance 11What is a gene? 18Gene regulation 22Mutation 23Genes, alleles, and loci 24Simple or Mendelian inheritance 25Linkage 27Inactivation 32Types of DNA 35Further reading 38Appendix 1.1 Banded karyotypes of domestic species 392 Molecular biology 46Restriction enzymes 46Recombinant DNA and DNA cloning 49Complementary DNA 51DNA sequencing 53Polymerase chain reaction 55Southern analysis and related technologies 58DNA expression microarrays 58The detection of variation in base sequence 60Veterinary diagnosis 63Variable number of tandem repeats (VNTR), DNA fingerprints, and microsatellites 64Single nucleotide polymorphisms (SNPs) 68Copy number variation (CNV) 69Gene mapping 70Whole-genome sequence assembly 74Production of polypeptide from cloned DNA 76Transgenesis 77Antisense technology 80RNA interference 81Further reading 843 Single-gene disorders 85Inborn errors of metabolism 85Sex-limited inheritance 87Genetic heterogeneity of disease 88Type of gene action and type of disease 90Phenocopies 91A sample of single-gene disorders 92A revolution in mapping and identifying the causal mutation of single-gene disorders 96Further reading 98Appendix 3.1 A sample of single-gene traits that have been characterized at the molecular level 984 Chromosomal aberrations 103Abnormal chromosome number 103Abnormal chromosome structure 107Chromosomal aberrations in cancer 112Evolution of karyotypes 113Interspecific hybridization 113Freemartins 114Biological basis of sex 115Classification of intersex 116A sample of chromosomal aberrations 117Further reading 119Appendix 4.1 A sample of chromosomal aberrations in animals 1195 Single genes in populations 121Gene and genotype frequencies 121Random mating 122The Hardy–Weinberg law 123Extensions to the Hardy–Weinberg law 125Selection and mutation 127Genetic drift and the founder effect 133Extending population genetics to more than one locus 134Further reading 1376 Familial disorders not due to a single gene 139Liability and threshold 139The multifactorial model 139More than one threshold 141Some final points 143Further reading 1497 Is it inherited? 150General evidence for a genetic aetiology 150The four types of simple, Mendelian inheritance 151Studying and analysing the data 153Further reading 1578 Immunogenetics 158Antibodies 159Red-cell antigens 160The major histocompatibility complex (MHC) 163Further reading 1719 Pharmacogenetics 172Genetic polymorphisms affecting drug metabolism 172Genetics and anaesthesia 173Warfarin resistance 174Multifactorial pharmacogenetics 175Further reading 17810 Hosts, parasites, and pathogens 179Host–pathogen interactions 179Resistance in hosts 183Resistance in parasites and pathogens 184Control of parasites and pathogens 188Increasing the level of resistance in hosts 190Further reading 19311 Single genes in animal breeding 195Coat colour 195Examples of coat-colour genes 195Carpet wool 200Prolificacy in sheep 200Polledness 201Muscular hypertrophy in cattle and sheep 201Dwarf poultry 202Genes for sexing chickens 202Pedigree checking 204Further reading 20612 Relationship and inbreeding 207The inbreeding coefficient 207Relationship 208The inbreeding coefficient revisited 209A general expression for relationship and inbreeding 210The base population 211Inbreeding in populations 212Inbreeding depression 212Further reading 21513 Quantitative variation 216Quantitative traits 216The performance of an individual animal 218The differences between animals 220Heritability 221Correlations between traits 224Quantitative trait loci (QTL) 224Further reading 22814 Selection between populations 230Comparison between populations 230Genotype–environment interaction 232Further reading 23415 Selection within populations 235Estimated breeding values and accuracy of selection 235Clues to a candidate’s breeding value for a trait 236Combining clues from more than one source 236Best linear unbiased prediction (BLUP) 238Correlated traits 239Selection for more than one trait 240The importance of inbreeding and genetic drift 242Sire-reference schemes 243Marker-assisted selection (MAS) and genome-wide selection (GWS) 244Further reading 24716 Breed structure 249The traditional pyramid 249Closed-nucleus breeding schemes 249Open-nucleus breeding schemes 250Information nucleus 252Further reading 25317 Crossing 254Regular crossing 254Crossing to produce a synthetic 260Grading-up 261Further reading 26518 Selection and regular crossing 267Selection 267Selection and regular crossing 267Further reading 26919 Biotechnology and the future 270Artificial insemination (AI) 270Multiple ovulation and embryo transfer (MOET) 271In vitro maturation (IVM) and in vitro fertilization (IVF) of ova 272Control of sex ratio 273Recombinant proteins 273Transgenesis 274Animal cloning 275Further reading 27920 Conservation genetics 280Measurement of genetic diversity within populations 280Measurement of genetic diversity among populations 282Importance of genetic diversity 283Loss of genetic diversity 284Conservation of genetic diversity 286Further reading 28921 Genetic and environmental control of inherited disorders 291Environmental control of inherited disorders 291Genetic control of single-gene disorders 294Gene therapy 300Genetic control of multifactorial disorders 300Genetic control – some final points 302Crossing: thinking outside the square 304Further reading 306Glossary 307Index 310