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# 4.10: Mutation Effects

Difficulty Level: At Grade Created by: CK-12
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Is this rat hairless?

Yes. Why? The result of a mutation, a change in the DNA sequence. The effects of mutations can vary widely, from being beneficial, to having no effect, to having lethal consequences, and every possibility in between.

### Effects of Mutations

The majority of mutations have neither negative nor positive effects on the organism in which they occur. These mutations are called neutral mutations . Examples include silent point mutations. They are neutral because they do not change the amino acids in the proteins they encode.

Many other mutations have no effect on the organism because they are repaired before protein synthesis occurs. Cells have multiple repair mechanisms to fix mutations in DNA. One way DNA can be repaired is illustrated in Figure below . If a cell’s DNA is permanently damaged and cannot be repaired, the cell is likely to be prevented from dividing.

DNA Repair Pathway. This flow chart shows one way that damaged DNA is repaired in E. coli bacteria.

#### Beneficial Mutations

Some mutations have a positive effect on the organism in which they occur. They are called beneficial mutations . They lead to new versions of proteins that help organisms adapt to changes in their environment. Beneficial mutations are essential for evolution to occur. They increase an organism’s changes of surviving or reproducing, so they are likely to become more common over time. There are several well-known examples of beneficial mutations. Here are just two:

1. Mutations in many bacteria that allow them to survive in the presence of antibiotic drugs. The mutations lead to antibiotic-resistant strains of bacteria.
2. A unique mutation is found in people in a small town in Italy. The mutation protects them from developing atherosclerosis, which is the dangerous buildup of fatty materials in blood vessels. The individual in which the mutation first appeared has even been identified.

#### Harmful Mutations

Imagine making a random change in a complicated machine such as a car engine. The chance that the random change would improve the functioning of the car is very small. The change is far more likely to result in a car that does not run well or perhaps does not run at all. By the same token, any random change in a gene's DNA is likely to result in a protein that does not function normally or may not function at all. Such mutations are likely to be harmful. Harmful mutations may cause genetic disorders or cancer.

### Summary

• Mutations are essential for evolution to occur because they increase genetic variation and the potential for individuals to differ.
• The majority of mutations are neutral in their effects on the organisms in which they occur.
• Beneficial mutations may become more common through natural selection.
• Harmful mutations may cause genetic disorders or cancer.

### Practice I

Use these resources to answer the questions that follow.

• http://www.hippocampus.org/Biology $\rightarrow$ Non-Majors Biology $\rightarrow$ Search: Genetic Disorders
1. Define genetic disorders.
2. What are the two primary types of genetic aberrations?
• http://www.hippocampus.org/Biology $\rightarrow$ Non-Majors Biology $\rightarrow$ Search: Gene Defects
1. What are the results of a mutation or defect in a single gene?
2. Describe the causes and effects of cystic fibrosis, Huntington's Disease, and hemophilia.
• http://www.hippocampus.org/Biology $\rightarrow$ Non-Majors Biology $\rightarrow$ Search: Chromosomal Abnormalities
1. What is a chromosomal disorder?
2. When and how do chromosomal errors occur?
3. Describe Cri-du-chat Syndrome and Down Syndrome.

### Review

1. Why are mutations essential for evolution to occur?

2. What is a genetic disorder?

3. What is cancer?

### Vocabulary Language: English Spanish

antibiotic-resistant

antibiotic-resistant

Strain of bacteria with a mutation that allows survival in the presence of antibiotic drugs.
beneficial mutation

beneficial mutation

A mutation that has a positive effect on the organism in which it occurs.
cancer

cancer

Disease that occurs when the cell cycle is no longer regulated and cells divide out of control.
genetic disorder

genetic disorder

Disease caused by a mutation in one or a few genes.
neutral mutation

neutral mutation

A mutation that has neither negative nor positive effects on the organism in which it occurs.

Feb 24, 2012

Oct 17, 2015