The Importance of Mutations

Mutations are both the sustainer of life and the cause of great suffering. On the one hand, mutation is the source of all genetic variation, the raw material of evolution. The ability of organisms to adapt to environmental change depends critically on the presence of genetic variation in natural populations, and genetic variation is produced—at least partly—by mutation. On the other hand, many mutations have detrimental effects, and mutation is the source of many diseases and disorders.

Much of the study of genetics focuses on how genetic variations produced by mutation are inherited; genetic crosses are meaningless if all individual members of a species are identically homozygous for the same alleles. Much of Gregor Mendel’s success in unraveling the principles of inheritance can be traced to his use of carefully selected variants of the garden pea. Similarly, Thomas Hunt Morgan and his students discovered many basic principles of genetics by analyzing mutant fruit flies.

Mutations are also useful for examining fundamental biological processes. Finding or creating mutations that affect different components of a biological system and studying their effects can often lead to an understanding of the system. This method, referred to as genetic dissection, is analogous to figuring out how an automobile works by breaking different parts of a car and observing the effects; for example, smash the radiator and the engine overheats, revealing that the radiator cools the engine. The use of mutations to disrupt function can likewise be a source of insight into biological processes. For example, geneticists have begun to unravel the molecular details of development by studying mutations, such as tinman, that interrupt various embryonic stages in Drosophila. Scientists have also used the analysis of mutations to reveal the different parts of the lac operon (discussed in Chapter 12) and how they function in gene regulation. Although breaking “parts” to determine their function might seem like a crude approach to understanding a system, it is actually very powerful and has been used extensively in biochemistry, developmental biology, physiology, and behavioral science. But this method is not recommended for learning how your car works!

CONCEPTS

Mutations are heritable changes in DNA. They are essential to the study of genetics and are useful in many other biological fields.