Mutations & Natural Selection (College Board AP® Biology): Study Guide

Cara Head

Written by: Cara Head

Reviewed by: Ruth Brindle

Updated on

Mutations & natural selection

  • The process of natural selection is closely linked to mutation

  • Mutations lead to changes in genotype that may creates new alleles and affect the phenotype of the individual

  • These changes are then subject to natural selection

  • New alleles can benefit the organism or individuals they are present in

    • Others have no effect and are considered neutral

    • Some lead to detrimental effects on the organism

  • Advantageous alleles allow individuals to outcompete others in the population e.g. for food, habitat occupancy or for a mate

    • This ensures that the affected individual is more likely to pass on the beneficial allele(s) to future offspring

    • Therefore increasing the evolutionary fitness of the organism as the basis of natural selection

  • Natural selection favors any changes to DNA sequences which may increase survival and reproductive chances through several methods:

    • Horizontal acquisition of genetic material from prokaryotic cells

    • Recombination of genetic information in viruses within a host cell

    • Reproduction processes increase genetic variation are evolutionarily conserved and are shared by various organisms

      • This means that these processes are shared across species from bacteria to humans.

      • E.g. sexual reproduction which favors genetic variation within species through meiotic processes crossing over and independent assortment

Horizontal transmission of genetic material

  • DNA, often in the form of plasmids, is frequently transferred between prokaryotes (even from one species to another)

  • The processes of horizontal gene transfer ensure that genetic variation is increased

  • This occurs during:

    • transformation - foreign naked DNA in the environment is taken up by a cell and incorporated into its DNA

    • transduction - DNA is transferred from one bacterial cell to another via viral particles (bacteriophages)

    • conjugation - a thin tube, or pillus, forms between two bacteria to allow the exchange of DNA

    • transposition - the movement of a segment of DNA or genes between and within the same chromosome or between different DNA molecules (e.g., plasmids and chromosomal DNA); sometimes referred to as 'jumping genes'

Antibiotic resistance

  • A bacterium containing a gene for antibiotic resistance, could transfer this gene on to other bacterial cells through horizontal gene transfer

    • This is how ‘superbugs’ with multiple resistance have developed (e.g., methicillin resistant Staphylococcus aureus – MRSA)

Diagram of bacterial gene transmission; vertical shows resistant genes passed during cell division; horizontal shows gene transfer through conjugation.
Horizontal gene transmission can exchange DNA quickly and confer benefits e.g., antibiotic resistance

Pesticide resistance

  • Pesticide resistance organisms, such as insects and bacteria, acquire genetic changes that allow them to survive exposure to pesticides

  • These resistance phenotypes can spread through a population via mutations and horizontal gene transfer which enables adaptation of the organisms to pesticide environments

  • Resistance to a pesticide may arise at random due to a mutation

    • A single nucleotide change in a gene can alter the target site of a pesticide, reducing its effectiveness

  • Horizontal gene transfer allows resistant organisms to transfer resistance genes to others, (even across species)

    • This speeds up the spread of resistance without needed new mutations in each individual organism

Viral recombination

  • Sometimes, two virus strains co-infect the same host cell

  • The genetic material from the two strains interact with each other during viral replication, using the host cell's replication processes

  • This is called viral recombination

  • Recombination generally occurs between members of the same virus type (e.g., between two retroviruses)

  • Virus progeny acquire genes from both strains

  • This increases genetic variation with virus strains and the ability of the virus to withstand pressures from natural selection

Heterozygous advantage

  • Sickle cell anemia is a disease where genetic variation influences health and survival

  • The disease is caused by a mutation in the hemoglobin gene (HBB) which leads to the production of abnormal hemoglobin (HbS)

  • When the oxygen levels are low, mutated hemoglobin forms rigid structures, causing red blood cells to become sickle-shaped and block blood flow

  • The inheritance of sickle cell anemia disease is through individuals who are homozygous for the sickle cell allele (Hbs)

  • There is a heterozygous advantageous to individuals who inherit one normal allele and one sickle cell allele

    • These individuals 'carry' the sickle cell trait but do not show symptoms, however they have shown to be resistant to malaria, offering a survival advantage in areas with high malaria prevalence

  • Heterozygote advantage is an example of how genetic variation can be maintained in a population

    • The advantages of having a partial sickle cell trait leads to malaria resistance while avoiding the severe consequences of full sickle cell disease

    • The advantageous trait can be maintained through sexual reproduction

Punnett square diagram showing the genetic inheritance of sickle-cell anaemia from carrier parents, indicating normal, carrier, and sufferer outcomes.
The presence of sick cell disease is through the inheritance of a heterozygous allele

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Cara Head

Author: Cara Head

Expertise: Biology Content Creator

Cara graduated from the University of Exeter in 2005 with a degree in Biological Sciences. She has fifteen years of experience teaching the Sciences at KS3 to KS5, and Psychology at A-Level. Cara has taught in a range of secondary schools across the South West of England before joining the team at SME. Cara is passionate about Biology and creating resources that bring the subject alive and deepen students' understanding

Ruth Brindle

Author: Ruth Brindle

Expertise: Biology

Ruth graduated from Sheffield University with a degree in Biology and went on to teach Science in London whilst also completing an MA in innovation in Education. With 10 years of teaching experience across the 3 key science disciplines, Ruth decided to set up a tutoring business to support students in her local area. Ruth has worked with several exam boards and loves to use her experience to produce educational materials which make the mark schemes accessible to all students.