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91Ó°ÊÓ

When researchers compare a gene in closely related species, why is it logical to infer that positive natural selection has taken place if replacement substitutions outnumber silent substitutions?

Short Answer

Expert verified
Excess replacement substitutions imply beneficial changes, suggesting positive selection.

Step by step solution

01

Understanding substitution types

There are two main types of genetic substitutions: silent (synonymous) and replacement (nonsynonymous) substitutions. Silent substitutions do not alter the amino acid sequence of the protein, while replacement substitutions change the amino acid sequence.
02

Role of silent substitutions

Silent substitutions typically accumulate at a steady rate, serving as markers of evolutionary time since they are usually neutral and not affected by natural selection. This is because they do not change the protein’s structure and thereby its function.
03

Understanding replacement substitutions

Replacement substitutions can affect the protein function since they alter the amino acid sequence. These substitutions are usually subject to selective pressures, as they can improve, reduce, or not affect the organism's fitness.
04

Positive natural selection and substitution

When replacement substitutions outnumber silent substitutions, it suggests that the alterations to the protein have been beneficial. As a result, these beneficial mutations are preserved and proliferate through populations, indicating positive natural selection.
05

Logical inference

Precisely because replacement substitutions change protein function, a higher frequency of these substitutions suggests a selection for beneficial traits that improve fitness, rather than random occurrences, which would be indicated if silent substitutions were more frequent.

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Key Concepts

These are the key concepts you need to understand to accurately answer the question.

Silent Substitutions
Silent substitutions, also known as synonymous substitutions, occur when a nucleotide change in the DNA does not affect the amino acid sequence of the protein it encodes. This happens because multiple codons can code for the same amino acid, thanks to the redundancy in the genetic code.
These substitutions are considered 'silent' because they don't change the protein's structure or function. Thus, they usually accumulate over time in a manner that reflects the passage of evolutionary time. They are not typically influenced by natural selection, as they do not alter the function of the organism. Key points to remember about silent substitutions include:
  • They do not result in a change to the protein.
  • They are often used as molecular clocks to estimate evolutionary timelines.
  • They are generally neutral concerning natural selection.
Replacement Substitutions
Replacement substitutions, also known as nonsynonymous substitutions, occur when a change in the nucleotide sequence alters the amino acid sequence of the encoded protein. This kind of substitution can significantly affect the protein's function, as the structure of the protein may change with the different amino acid.
Whether such a substitution is beneficial, detrimental, or neutral depends on the role of the affected protein and environmental pressures. It's these modifications that are often subject to selective pressures, meaning natural selection can influence their prevalence. Here are some critical points about replacement substitutions:
  • They result in an amino acid change that can alter protein function.
  • They can be favored by natural selection if they enhance an organism's fitness.
  • A higher frequency relative to silent substitutions often indicates positive natural selection.
Genetic Substitutions
Genetic substitutions refer to changes in the DNA sequence of an organism. These changes can be silent or replacement based on their effect on protein sequences. Understanding their distinctions is crucial for studying evolutionary biology and the mechanisms of natural selection.

Silent substitutions, as noted, do not alter protein function, acting more as neutral markers of evolutionary time. On the other hand, replacement substitutions have the potential to directly affect an organism's fitness by modifying protein compositions. Geneticists study these patterns to decipher evolutionary paths and adaptation mechanisms.
  • Silent substitutions reflect evolutionary time without impacting fitness directly.
  • Replacement substitutions can alter fitness and are informative of selective forces.
  • Together, their rates and patterns of occurrence can give insights into evolution driven by natural selection.
By examining the balance between these two types of substitutions, scientists can infer if positive natural selection has been at work, particularly when replacement substitutions outnumber silent ones, suggesting that beneficial traits are being selected for.

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Most popular questions from this chapter

Genomes contain coding regions and noncoding sequences.What do coding sequences contain? Pseudogenes are noncoding sequences that are functionless stretches of DNA resulting from gene duplication. How do pseudogenes help verify the assumptions and predictions of the neutral theory?

Bodmer and McKie (1995) review several cases, similar to achromatopsia in the Pingelapese, in which genetic diseases occur at unusually high frequency in populations that are, or once were, relatively isolated. An enzyme deficiency called hereditary tyrosinemia, for example, occurs at an unusually high rate in the Chicoutimi region north of Quebec City in Canada. A condition called porphyria is unusually common in South Africans of Dutch descent. Why are genetic diseases so common in isolated populations? What else do these populations all have in common?

What is codon bias? Why is the observation of nonrandom codon use evidence that certain codons might be favored by natural selection? If you were given a series of gene sequences from the human genome, how would you determine whether codon usage is random or nonrandom?

As we have seen, inbreeding can reduce offspring fitness by exposing deleterious recessive alleles. However, some animal breeders practice generations of careful inbreeding within a family, or "line breeding," and surprisingly many of the line-bred animals, from champion dogs to prize cows, have normal health and fertility. How can it be possible to continue inbreeding for many generations without experiencing inbreeding depression due to recessive alleles? (Hint: Consider some of the differences between animal breeders and natural selection in the wild.) Generally, if a small population continues to inbreed for many generations, what will happen to the frequency of the deleterious recessive alleles over time?

Allele frequencies in a population are considered to be stable over a period of time, unless countered by other processes such as migration, which in an evolutionary sense refers to gene flow across populations, or mutations. Migration leads to mixing of genes between populations and is likely to affect the distribution of allele frequencies in populations. How does it affect the allele frequencies across populations? What would be the effect of a small population receiving immigrants from a large source population?

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