Book contents
- Frontmatter
- Contents
- Preface
- Acknowledgments
- Chapter 1 Life Forms and Their Origins
- Chapter 2 Nucleic Acids
- Chapter 3 Proteins
- Chapter 4 Simple Chromosomes
- Chapter 5 Chromosomes of Eukarya
- Chapter 6 Genome Content
- Chapter 7 RNA Synthesis 1: Transcription
- Chapter 8 RNA Synthesis 2: Processing
- Chapter 9 Abundance of RNAs in Bacteria
- Chapter 10 Abundance of RNAs in Eukarya
- Chapter 11 Protein Synthesis
- Chapter 12 DNA Replication
- Chapter 13 Chromosome Replication
- Chapter 14 Molecular Events of Recombination
- Chapter 15 Micromutations
- Chapter 16 Repair of Altered DNA
- Chapter 17 Reproduction of Bacteria
- Chapter 18 Horizontal Gene Transfer in Bacteria
- Chapter 19 Cell Cycles of Eukarya
- Chapter 20 Meiosis
- Chapter 21 Chromosomal Abnormalities
- Chapter 22 Life Cycles of Eukarya
- Chapter 23 Reproduction of Viruses
- Chapter 24 Genetic Processes in Development
- Chapter 25 Sex Determination and Dosage Compensation
- Chapter 26 Cancer
- Chapter 27 Cutting, Sorting, and Copying DNA
- Chapter 28 Genotyping by DNA Analysis
- Chapter 29 Genetically Engineered Organisms
- Chapter 30 Genomics
- Chapter 31 Behavior of Genes and Alleles
- Chapter 32 Probability and Statistics Toolkit
- Chapter 33 Genes, Environment, and Interactions
- Chapter 34 Locating Genes
- Chapter 35 Finding and Detecting Mutations
- Chapter 36 Cytoplasmic Inheritance
- Chapter 37 Genetic Variation in Populations
- Chapter 38 Mutation, Migration, and Genetic Drift
- Chapter 39 Natural Selection
- Chapter 40 Quantitative Genetics
- Chapter 41 Speciation
- Chapter 42 Molecular Evolution and Phylogeny
- Glossary
- Index
Chapter 15 - Micromutations
Published online by Cambridge University Press: 05 June 2012
- Frontmatter
- Contents
- Preface
- Acknowledgments
- Chapter 1 Life Forms and Their Origins
- Chapter 2 Nucleic Acids
- Chapter 3 Proteins
- Chapter 4 Simple Chromosomes
- Chapter 5 Chromosomes of Eukarya
- Chapter 6 Genome Content
- Chapter 7 RNA Synthesis 1: Transcription
- Chapter 8 RNA Synthesis 2: Processing
- Chapter 9 Abundance of RNAs in Bacteria
- Chapter 10 Abundance of RNAs in Eukarya
- Chapter 11 Protein Synthesis
- Chapter 12 DNA Replication
- Chapter 13 Chromosome Replication
- Chapter 14 Molecular Events of Recombination
- Chapter 15 Micromutations
- Chapter 16 Repair of Altered DNA
- Chapter 17 Reproduction of Bacteria
- Chapter 18 Horizontal Gene Transfer in Bacteria
- Chapter 19 Cell Cycles of Eukarya
- Chapter 20 Meiosis
- Chapter 21 Chromosomal Abnormalities
- Chapter 22 Life Cycles of Eukarya
- Chapter 23 Reproduction of Viruses
- Chapter 24 Genetic Processes in Development
- Chapter 25 Sex Determination and Dosage Compensation
- Chapter 26 Cancer
- Chapter 27 Cutting, Sorting, and Copying DNA
- Chapter 28 Genotyping by DNA Analysis
- Chapter 29 Genetically Engineered Organisms
- Chapter 30 Genomics
- Chapter 31 Behavior of Genes and Alleles
- Chapter 32 Probability and Statistics Toolkit
- Chapter 33 Genes, Environment, and Interactions
- Chapter 34 Locating Genes
- Chapter 35 Finding and Detecting Mutations
- Chapter 36 Cytoplasmic Inheritance
- Chapter 37 Genetic Variation in Populations
- Chapter 38 Mutation, Migration, and Genetic Drift
- Chapter 39 Natural Selection
- Chapter 40 Quantitative Genetics
- Chapter 41 Speciation
- Chapter 42 Molecular Evolution and Phylogeny
- Glossary
- Index
Summary
Overview
No life form is a perfect machine, and from generation to generation, a genome may be subject to change – mutation. A mutation is any newly arisen, stably inherited alteration of a life form's genome. A mutation is not a transitory change, and it is not the same as damage, although damage to DNA may lead to mutation. A mutation may not impact the functioning or even the structure of gene products, but if it does, the effects can range from beneficial to fully lethal.
Micromutations are small, affecting at most a single gene and usually involving fewer than ~103 nucleotides. In this chapter, a classification of micromutations is followed by descriptions of their causes and effects. Large mutations – chromosomal abnormalities – are sufficiently different from micromutations that they are taken up later (Chapter 21).
Types of Micromutation
The five kinds of small mutation are substitution, deletion, insertion, duplication, and inversion. Most mutations are point mutations (single nucleotide change), and the most frequent kind of point mutation is a nucleotide substitution, also commonly called a base substitution. Micromutations can occur anywhere in a chromosome.
Substitution
Substitution is nucleotide replacement (Figure 15.1). There are two types of nucleotide substitution, transition and transversion. A transition is substitution of a purine nucleotide for a purine nucleotide or substitution of a pyrimidine nucleotide for a pyrimidine nucleotide. A transversion is a substitution of a purine nucleotide for a pyrimidine nucleotide, or vice versa. Substitutions occur throughout chromosomes.
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- Information
- Fundamental Genetics , pp. 136 - 144Publisher: Cambridge University PressPrint publication year: 2004