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 21 - Chromosomal Abnormalities
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
Most mutations are clearly either very small, involving <103 nucleotides, or big, involving many genes or whole chromosomes – chromosomal abnormalities are rearrangements (deletion, duplication, inversion, or translocation), or altered numbers of chromosomes (aneuploidy and polyploidy). Here, “chromosomal abnormality” means a mutation affecting two or more genes. This chapter deals with the causes and consequences of chromosome mutations in eukarya.
Chromosomal Rearrangement
Chromosomal rearrangements arise more rarely than do micromutations. Furthermore, having two identical copies of a chromosome rearrangement in a diploid genome is often lethal. Deletions and duplications are extremely rare in natural populations, but, surprisingly, inversions and translocations are relatively common in many species of plants and animals. The evolutionary basis of this seeming paradox is, in a nutshell, that diploid individuals having one rearranged copy and one normal copy of a chromosome often have a reproductive advantage (e.g., higher survival or fertility). Such a reproductive advantage leads to an increase in the population frequency of the chromosomal rearrangement (Chapter 39).
Rearrangements usually result from an exchange following two or more double-strand breaks in physically close chromosomes. Ionizing radiation, transposons, or oxidation by free radicals can induce double-strand breaks.
Deletion (Deficiency)
A chromosomal deletion is the loss of a segment of the chromosome (Figure 21.1). Large deletions, sometimes called chromosomal deficiencies, result from two double-strand breaks followed by loss of the segment between the breaks and a rejoining of the outside pieces.
- Type
- Chapter
- Information
- Fundamental Genetics , pp. 191 - 200Publisher: Cambridge University PressPrint publication year: 2004