Student
Answer
Document
Name:____________________________________________
Date:__________________
The Outcome of a
Mutation
Go to https://learn.genetics.utah.edu/content/evolution/outcomes/
Mutation is a process that changes a DNA sequence. But how does a difference in a gene’s
DNA sequence (or genotype) lead to a difference in an observable trait (or phenotype)?
Today, I want you to explore the following mutations and the effects that they have on
organisms. Click through each example and answer the following questions.
While you go through each example make sure you think about the relationship between
DNA, protein, and the physical characteristics (traits) of the organisms.
2
Double-muscled cattle
1
Shar Pei dogs
Trait:
Protein that causes trait:
What does that protein do normally?
How is the DNA different (mutated)?
How does that affect the protein?
What are some other examples?
Is this a variation, disease, or both?
Trait:
Protein that causes trait:
What does that protein do normally?
How is the DNA different (mutated)?
How does that affect the protein?
What are some other examples?
Is this a variation, disease, or both?
©The Trendy Science Teacher
3 Extra-toed cats
Trait:
Protein that causes trait:
What does that protein do normally?
How is the DNA different (mutated)?
How does that affect the protein?
What are some other examples?
Is this a variation, disease, or both?
Trait:
4
Curly Hair
Protein that causes trait:
What does that protein do normally?
How is the DNA different (mutated)?
How does that affect the protein?
What are some other examples?
Is this a variation, disease, or both?
Mendel’s Peas
Protein that causes trait:
5
Trait:
Is this a variation, disease, or both?
What does that protein do normally?
How is the DNA different (mutated)?
How does that affect the protein?
What are some other examples?
©The Trendy Science Teacher
Disease Resistance/ CF
Trait:
Protein that causes trait:
What does that protein do normally?
How is the DNA different (mutated)?
How does that affect the protein?
What are some other examples?
6
Is this a variation, disease, or both?
7
Red Hair
Trait:
Protein that causes trait:
What does that protein do normally?
How is the DNA different (mutated)?
How does that affect the protein?
What are some other examples?
Is this a variation, disease, or both?
8
Song learning
in birds
Trait:
Protein that causes trait:
What does that protein do normally?
How do FOXP2 levels affect birds?
What are some other examples?
Is this a variation, disease, or both?
Are mutations always bad? Why or why not?
©The Trendy Science Teacher
Station
Cards
Station 1
Shar Pei Dogs
Station 2
Double-Muscled
Cattle
Station 3
Extra-Toed Cats
Station 4
Curly Hair
Station 5
Mendel’s Peas
Station 6
Disease Resistance /
Cystic Fibrosis
Station 7
Red Hair
Station 8
Song Learning in Birds
Answer
Key
Name:____________________________________________
Date:__________________
The Outcome of a
Mutation
Go to https://learn.genetics.utah.edu/content/evolution/outcomes/
Mutation is a process that changes a DNA sequence. But how does a difference in a gene’s
DNA sequence (or genotype) lead to a difference in an observable trait (or phenotype)?
Today, I want you to explore the following mutations and the effects that they have on
organisms. Click through each example and answer the following questions.
While you go through each example make sure you think about the relationship between
DNA, protein, and the physical characteristics (traits) of the organisms.
1
Shar Pei dogs
Trait: thick, wrinkled skin
Protein that causes trait: HAS2
What does that protein do normally? It surrounds skin cells to offer structural
support. It is also a signaling molecule.
How is the DNA different (mutated)? There is an extra “on” switch
How does that affect the protein? It makes too much HA and as a result, thickens the
skin
What are some other examples? The naked mole rat
2
Double-muscled cattle
Is this a variation, disease, or both? both
Trait: large muscles (double the muscle mass)
Protein that causes trait: myostatin
What does that protein do normally? It tells muscles cells when to stop growing
How is the DNA different (mutated)? A small deletion in the coding sequence of the
myostatin gene shifts the reading frame
How does that affect the protein? It makes an early “stop” codon- only a small piece
of the protein is made.
What are some other examples? Bully whippets, people
Is this a variation, disease, or both? variation
©The Trendy Science Teacher
3 Extra-toed cats
Trait: extra toes on the thumb side
Protein that causes trait: SHH
What does that protein do normally? It’s a signaling protein
How is the DNA different (mutated)? A single-base change outside the protein- coding
sequence makes a new switch
How does that affect the protein? This switch turns on the SHH gene
What are some other examples? People- born with two thumbs
Is this a variation, disease, or both? Variation
Trait: curly hair
4
Curly Hair
Protein that causes trait: Keratin71
What does that protein do normally? Normally links together into strong threads that
form a web inside cells.
How is the DNA different (mutated)? A two-base substitution in the Keratin71 gene
changes a single amino acid.
How does that affect the protein? The new amino acid changes the shape of the
protein
What are some other examples? Mice with no Keratin71 will have kinky fur
Is this a variation, disease, or both? variation
Mendel’s Peas
Protein that causes trait: SBE1
5
Trait: wrinkled peas that taste sweet
Is this a variation, disease, or both? variation
What does that protein do normally? Builds starch
How is the DNA different (mutated)? Insertion disrupts the coding sequence
How does that affect the protein? The tail end of the protein is lost, which disables the protein
What are some other examples? People- mutations in the SBE1 cause organ failure and death
©The Trendy Science Teacher
Disease Resistance/ CF
6
fever
Trait: disease resistance/cystic fibrosis
Protein that causes trait: CFTR
What does that protein do normally? Helps maintain salt balance by moving chloride ions
across cell membranes
How is the DNA different (mutated)? Variations in the CFTR gene change the amino acid
sequence
How does that affect the protein? The protein can’t fold properly & it’s broken down by
the cell.
What are some other examples? Mice- can have cystic fibrosis or be immune to typhoid
Is this a variation, disease, or both? both
Trait: red hair
7
Red Hair
Protein that causes trait: MC1R
What does that protein do normally? Makes pigments
How is the DNA different (mutated)? Redheads have fewer working MC1R proteins
How does that affect the protein? No black pigments are made- only red
What are some other examples? Birds (creates feather variation)
Is this a variation, disease, or both? both
8
Song learning
in birds
Trait: learns and repeats songs
Protein that causes trait: FOXP2
What does that protein do normally? Attaches to the DNA switches in brain cells to
turn genes on or off.
How do FOXP2 levels affect birds? With no FOXP2 levels, birds die before hatching. With
reduced FOXP2 levels, birds can’t learn songs.
What are some other examples? Bats, people (impaired speech)
Is this a variation, disease, or both? both
Are mutations always bad? Why or why not? No, some mutations are helpful (ex. disease resistance)
and some have no detrimental effects (ex. curly hair)
©The Trendy Science Teacher
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