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General Biology II: How Gene Mutations Occur

General Biology II
How Gene Mutations Occur
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table of contents
  1. Cover
  2. Title Page
  3. Copyright
  4. Table Of Contents
  5. Reference Information
  6. The Process of Science
  7. 3. Biological Molecules
  8. 4. Structure of DNA
  9. 5. DNA Replication
  10. 6. Protein Synthesis
    1. 6.1 What are proteins and what do they do?
    2. 6.2 What is a gene?
    3. 6.3 How do genes direct the production of proteins?
    4. 6.4 Transcription: from DNA to mRNA
    5. 6.5 Eukaryotic RNA Processing
    6. 6.6 Translation
    7. 6.7 The Genetic Code
    8. Optional Section - Micropigs
  11. 7. Mutations
    1. How Gene Mutations Occur
    2. Intro to Genetic Disorders
    3. Do all gene affect health and development?
    4. Types of Mutations
    5. Changes in Numbers of Genes
    6. Changes in Chromosome Number
    7. Complex Multifactorial Disorders
    8. Genetic Predispositions
    9. Genetics and Statistics
  12. Gene Regulation
    1. 8.1 Prokaryotic versus Eukaryotic Gene Expression
    2. 8.2 What is the epigenome?
    3. 8.3 Alternative RNA splicing
  13. 9. Biotechnology
    1. 9.1 Manipulating Genetic Material
    2. 9.2 Cloning
    3. 9.3 Genetic Engineering
    4. 9.4 Biotechnology in Medicine and Agriculture
    5. 9.5 Genomics and Proteomics
    6. 9.6 Applying Genomics
    7. 9.7 Proteomics
  14. 10. Cell Division - Binary Fission and Mitosis
    1. 10.1 Prokaryotic Cell Division
    2. 10.2 Eukaryotic Cell Division
    3. 10.3 Control of the Cell Cycle
    4. 10.4 Cancer and the Cell Cycle
  15. 11. Meiosis
    1. 11.1 Sexual Reproduction
    2. 11.2 Overview of Meiosis
    3. 11.3 Interphase
    4. 11.4 Meiosis I
    5. 11.5 Meiosis II
    6. 11.6 Comparing Meiosis and Mitosis
    7. 11.7 Errors in Meiosis
  16. 12. Patterns of Inheritance
    1. 12.1 Mendelian Genetics
    2. 12.2 Garden Pea Characteristics Revealed the Basics of Heredity
    3. 12.3 Phenotypes and Genotypes
    4. 12.4 Monohybrid Cross and the Punnett Square
    5. 12.5 Laws of Inheritance
    6. 12.6 Extensions of the Laws of Inheritance
    7. 12.7 Multiple Alleles
    8. 12.8 Sex-Linked Traits
    9. 12.9 Linked Genes Violate the Law of Independent Assortment
    10. 12.10 Epistasis
  17. Genetics: Dog Coat Color
    1. Introduction to Genetics
    2. Pedigrees and Punnett Squares
    3. Black fur color: a dominant trait
    4. Yellow fur color: a recessive trait
    5. Epistasis: the relationship between black, brown, and yellow fur
    6. Brindle color: partial dominance and epistasis
    7. Incomplete dominance: when traits blend
    8. White spotting: When there's more than two alleles
    9. Hemophilia: a sex-linked disorder
    10. Overall phenotypes: putting it all together
    11. Additional complexity
    12. It's not all in the genes

How Gene Mutations Occur

A gene mutation is a permanent alteration in the DNA sequence that makes up a gene, such that the sequence differs from what is found in most people. Mutations range in size; they can affect anywhere from a single DNA building block (base pair) to a large segment of a chromosome that includes multiple genes.

Recall that the DNA sequence found within a gene controls protein synthesis. If the DNA sequence is altered, this can alter the amino acid sequence within a protein.

protein synthesis
Figure : The process of protein synthesis first creates an mRNA copy of a DNA sequence during the process of transcription. This mRNA is translated into a sequence of amino acids by the ribosome. In this way, the information encoded in the sequence of bases in the DNA making up a gene is used to produce a protein.

Gene mutations can be classified in two major ways:

  • Hereditary mutations are inherited from a parent and are present throughout a person’s life in virtually every cell in the body. These mutations are also called germline mutations because they are present in the parent’s egg or sperm cells, which are also called germ cells. When an egg and a sperm cell unite, the resulting fertilized egg cell receives DNA from both parents. If this DNA has a mutation, the child that grows from the fertilized egg will have the mutation in each of his or her cells.
  • Acquired (or somatic) mutations occur at some time during a person’s life and are present only in certain cells, not in every cell in the body. These changes can be caused by environmental factors such as ultraviolet radiation from the sun, or can occur if a mistake is made as DNA copies itself during cell division. Acquired mutations in somatic cells (cells other than sperm and egg cells) cannot be passed on to the next generation.
hereditary mutation
Figure: The red individual has inherited two mutated alleles of a gene from their parents. This is an example of a hereditary mutation.
mutant tulip
Figure: The color variation seen in this tulip is caused by a somatic mutation – one which occurred early in the development of this individual flower.

Genetic changes that are described as de novo (new) mutations can be either hereditary or somatic. In some cases, the mutation occurs in a person’s egg or sperm cell but is not present in any of the person’s other cells. In other cases, the mutation occurs in the fertilized egg shortly after the egg and sperm cells unite. It is often impossible to tell exactly when a de novo mutation happened. As the fertilized egg divides, each resulting cell in the growing embryo will have the mutation. De novo mutations may explain genetic disorders in which an affected child has a mutation in every cell in the body but the parents do not, and there is no family history of the disorder.

Somatic mutations that happen in a single cell early in embryonic development can lead to a situation called mosaicism. These genetic changes are not present in a parent’s egg or sperm cells, or in the fertilized egg, but happen a bit later when the embryo includes several cells. As all the cells divide during growth and development, cells that arise from the cell with the altered gene will have the mutation, while other cells will not. Depending on the mutation and how many cells are affected, mosaicism may or may not cause health problems.

Most disease-causing gene mutations are uncommon in the general population. However, other genetic changes occur more frequently. Genetic alterations that occur in more than 1 percent of the population are called polymorphisms. They are common enough to be considered a normal variation in the DNA. Polymorphisms are responsible for many of the normal differences between people such as eye color, hair color, and blood type. Although many polymorphisms have no negative effects on a person’s health, some of these variations may influence the risk of developing certain disorders.

References

“Mutations and Health” by U.S. National Library of Medicine is in the Public Domain

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Copyright © 2016 by Lisa Bartee and Christine Anderson. Mt Hood Community College Biology 102 by Lisa Bartee and Christine Anderson is licensed under a Creative Commons Attribution 4.0 International License, except where otherwise noted.
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