03.04 Mutations

Module 03: Cell Reproduction

The big idea Connect a change in DNA to its possible effect on a protein, a cell, or offspring.
Course illustration of a normal cell and a cancer cell after DNA damage.

By the end you can

  • Recognize gene and chromosome mutations.
  • Explain substitutions and frameshifts.
  • Distinguish inherited changes from somatic changes and gene regulation.
  • Connect mutagens and cell-cycle controls to mutation effects.

A DNA change can change a protein

A mutation changes genetic material. Copying errors or environmental damage can change one gene, a chromosome’s structure, or chromosome number. Effects may be harmful, helpful, or neutral. A small change does not guarantee a small effect.

Course illustration of DNA-damaging exposures leading from a normal cell to a cancer cell.
Course illustration. Tap to enlarge.

Read a chromosome change

Compare the order before and after. Deletion loses a segment; duplication repeats one. Inversion reverses a segment’s order. Translocation moves a segment to another chromosome. These changes affect chromosome structure, rather than simply replacing one DNA base.

Original chromosome A B C D E F compared with deletion of B, leaving A C D E F.
Source-based diagram. Tap to enlarge.
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A repeated segment

In this course figure, one segment appears twice after the change. That extra copy is a duplication. Ask what changed: the number of copies, the order, or the chromosome carrying the segment?

Course chromosome illustration with B repeated in the changed chromosome.
Source-based diagram. Tap to enlarge.

Reversed or relocated

An inversion reverses part of the original sequence. A translocation moves material between chromosomes. In the translocation figure, G and H arrive from another chromosome; the key clue is where the material came from.

Segments G and H move from another chromosome into the illustrated A B C D E F chromosome.
Source-based diagram. Tap to enlarge.

A substitution keeps the grouping

A substitution replaces a base pair. It can leave the amino acid unchanged, change one amino acid, or create an early stop. The result depends on the mRNA codon. Use the mRNA chart in Protein Synthesis when you need that bridge.

Course substitution example comparing original and altered DNA, mRNA, and amino acids.
Source-based diagram. Tap to enlarge.

An insertion can shift the frame

Ribosomes read mRNA in groups of three. Adding or removing one or two bases can shift how later bases are grouped, changing later codons and the protein. This is a frameshift. Compare the reading groups after the change, not just the first altered base.

Source-based diagram comparing the original sequence with insertion and deletion and their changed amino acid chains.
Source-based diagram. Tap to enlarge.
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Which changes can be inherited?

A mutation in a somatic body cell, such as a skin cell, is not passed to offspring through reproduction. A mutation in a sperm or egg can be inherited. An inherited recessive allele may be present without its trait appearing.

Course body-cell mutation illustration used to distinguish somatic damage from mutations in gametes.
Course illustration. Tap to enlarge.

Same DNA, different jobs

Cells can turn different genes on or off. That changes which messages are transcribed and which proteins are made. Skin and liver cells can therefore do different jobs while carrying the same DNA. Gene regulation changes expression; it does not require a new DNA sequence.

Two cells compare a gene switched ON with a gene switched OFF.
Source-based diagram. Tap to enlarge.

Helpful depends on the organism

Mutations supply inherited variation. Resistance to a drug can benefit a bacterium while making an infection harder to treat. Other mutations damage protein function, and some have no noticeable effect. A mutagen, such as UV radiation or a DNA-damaging chemical, raises the rate of mutations.

Source-based diagram showing susceptible bacteria and resistant variants surviving drug exposure.
Source-based diagram. Tap to enlarge.
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When growth controls fail

Cancer involves uncontrolled cell growth and division. Mutations in genes that regulate the cell cycle can disrupt its controls; p53 is one example in the lesson. A benign tumor stays localized. A malignant tumor invades nearby tissue and can spread.

Normal and cancer cell comparison from the course.
Course illustration. Tap to enlarge.
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Try it before the quiz

Choose an answer, then use the explanation to check your reasoning.

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