Xxp

gamete, or per round of replication. For example, the mutation rate for achondroplasia (a type of hereditary dwarfism) is about four mutations per 100,000 gametes, usually expressed more simply as 4 X 10~5. In contrast, mutation frequency is defined as the incidence of a specific type of mutation within a group of individual organisms. For achondroplasia, the mutation frequency in the United States is about 2 X 10~4, which means that about 1 of every 20,000 persons in the U.S. population carries this mutation.

Mutation rates are affected by three factors. First, they depend on the frequency with which primary changes take place in DNA. Primary change may arise from spontaneous molecular changes in DNA or it may be induced by chemical or physical agents in the environment.

A second factor influencing the mutation rate is the probability that, when a change takes place, it will be repaired. Most cells possess a number of mechanisms to repair altered DNA; so most alterations are corrected before they are replicated. If these repair systems are effective, mutation rates will be low; if they are faulty, mutation rates will be elevated. Some mutations increase the overall rate of mutation at other genes; these mutations usually occur in genes that encode components of the replication machinery or DNA repair enzymes.

A third factor, one that influences our ability to calculate mutation rates, is the probability that a mutation will be recognized and recorded. When DNA is sequenced, all mutations are potentially detectable. In practice, however, sequencing is expensive; so mutations are usually detected by their phenotypic effects. Some mutations may appear to arise at a higher rate simply because they are easier to detect.

Mutation rates vary among organisms and among genes within organisms (Table 17.3), but we can draw several general conclusions about mutation rates. First, spontaneous mutation rates are low for all organisms studied. Typical mutation rates for viral and bacterial genes range from about 1 to 100 mutations per 10 billion cells (1 X 10~8 to 1 X 10~10). The mutation rates for most eukaryotic genes are a bit higher, from about 1 to 10 mutations per million gametes (1 X 10~5 to 1 X 10~6). These higher values in eukaryotes may be due to the fact that the rates are calculated per gamete, and several cell divisions are required to produce a gamete, whereas mutation rates in prokaryotic cells and viruses are calculated per cell division.

Within each major class of organisms, mutation rates vary considerably. These differences may be due to differing abilities to repair mutations, unequal exposures to mutagens, or biological differences in rates of spontaneously arising mutations. Even within a single species, spontaneous rates of mutation vary among genes. The reason for this variation is not entirely understood, but some regions of DNA are known to be more susceptible to mutation than others.

Table 17.3

Mutation rates of different genes in different organisms

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