Genetic Variation
What Is Mutation?

What Is Mutation?

Mutation is a natural process that changes a DNA sequence. And it is more common than you may think. As a cell copies its DNA before dividing, a "typo" occurs every 100,000 or so nucleotides. That's about 120,000 typos each time one of our cells divides.

Most commonly, a single base is substituted for another. Sometimes a base is deleted or an extra base is added. Fortunately, the cell is able to repair most of these changes. When a DNA change remains unrepaired in a cell that will become an egg or a sperm, it is passed down to offspring. Thanks to mutation, we all have some new variations that were not present in our parents.

People commonly use the terms "mutant" and mutation" to describe something undesirable or broken. But mutation is not always bad. Most DNA changes fall in the large areas of the genome that sit between genes, and usually they have no effect. When variations occur within genes, there is more often a consequence, but even then mutation only rarely causes death or disease. Mutation also generates new variations that can give an individual a survival advantage. And most often, mutation gives rise to variations that are neither good nor bad, just different.

base substitution

Mutation Generates New Alleles

The whole human family is one species with the same genes. Mutation creates slightly different versions of the same genes, called alleles. These small differences in DNA sequence make every individual unique. They account for the variation we see in human hair color, skin color, height, shape, behavior, and susceptibility to disease. Individuals in other species vary too, in both physical appearance and behavior.

Genetic variation is useful because it helps populations change over time. Variations that help an organism survive and reproduce are passed on to the next generation. Variations that hinder survival and reproduction are eliminated from the population. This process of natural selection can lead to significant changes in the appearance, behavior, or physiology of individuals in a population, in just a few generations.

Once new alleles arise, meiosis and sexual reproduction combine different alleles in new ways to increase genetic variation.


Mutation vs. variation

It's useful to think of mutation as a process that creates genetic variation. We often refer to a mutation as a thing—the genetic variation itself. This approach can be useful when it comes to a gene associated with a disease: the disease allele carries a mutation, a DNA change that compromises the protein's function. However, this approach gives mutation a bad name.

It’s important to remember that losing the function of a gene doesn’t always affect health. For example, most mammals have hundreds of genes that code for olfactory receptors, proteins that help us smell. Losing one of these genes probably doesn’t make all that much difference.

In contrast to variations that cause disease, there are many more examples of variations that are neither good nor bad, but just different—like blood types and eye color. Just like with disease alleles, the process of mutation creates these more neutral variations. But with neutral variations, it can be impossible to tell which allele is the "normal" one that existed first and which is the "mutant"—and the distinction is often meaningless.


Proteins and switches

Mutation creates variations in protein-coding portions of genes that can affect the protein itself. But even more often, it creates variations in the "switches" that control when and where a protein is active and how much protein is made.

Lactase is an enzyme that helps infants break down lactose, a sugar in milk. Normally the gene that codes for lactase is active in babies and then turned off at about age four. When people who don't make lactase consume milk, they experience gas, nausea, and discomfort. But some people have a variation in a genetic switch that keeps the lactase gene active. This variation is called "lactase persistence," and people who have it can keep milk in their diets even as adults.


Other drivers of mutation: Environmental agents

Radiation, chemicals, byproducts of cellular metabolism, free radicals, ultraviolet rays from the sun—these agents damage thousands of nucleotides in each of our cells every day. They affect the nucleotides themselves: converting one base to another, knocking a base off its backbone, or even causing a break in the DNA strand.


DNA Repair

Most of the time, mutation is reversed. DNA repair machines are constantly at work in our cells, fixing mismatched nucleotides and splicing broken DNA strands back together. Yet some DNA changes remain. If a cell accumulates too many changes—if its DNA is so damaged that repair machinery cannot fix it—it either stops dividing or it self-destructs. If any of these processes go wrong, the cell could become cancerous.

When we put on sun screen, we are protecting ourselves against mutation in somatic cells—the cells that make up the body and are not involved in reproduction.​ Only when DNA changes are carried in egg and sperm cells are they passed to the next generation. Believe it or not, a certain amount of sloppiness is built into the system. Without mutation there would be no variation, and without variation there would be no evolution.


Funding provided by grant 51006109 from the Howard Hughes Medical Institute, Precollege Science Education Initiative for Biomedical Research.


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APA format:
Genetic Science Learning Center (2014, June 22) What Is Mutation?. Learn.Genetics. Retrieved July 24, 2016, from http://learn.genetics.utah.edu/content/variation/mutation/
MLA format:
Genetic Science Learning Center. "What Is Mutation?." Learn.Genetics 24 July 2016 <http://learn.genetics.utah.edu/content/variation/mutation/>
Chicago format:
Genetic Science Learning Center, "What Is Mutation?," Learn.Genetics, 22 June 2014, <http://learn.genetics.utah.edu/content/variation/mutation/> (24 July 2016)